SLC2A1

Summary

SLC2A1 (solute carrier family 2 member 1, HGNC:11005) is a protein-coding gene on chromosome 1p34.2, encoding Solute carrier family 2, facilitated glucose transporter member 1 (P11166). Facilitative glucose transporter, which is responsible for constitutive or basal glucose uptake. It is a selective cancer dependency (DepMap: 40.5% of cell lines) and haploinsufficient (ClinGen: sufficient evidence).

This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia.

Source: NCBI Gene 6513 — RefSeq curated summary.

At a glance

• Gene–disease (curated): GLUT1 deficiency syndrome (Definitive, ClinGen) — +7 more curated relationships
• GWAS associations: 15
• Clinical variants (ClinVar): 1,232 total — 239 pathogenic, 79 likely-pathogenic
• Phenotypes (HPO): 195
• Druggable target: yes — 7 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 40.5% of screened cell lines
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_006516

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11005
Approved symbol	SLC2A1
Name	solute carrier family 2 member 1
Location	1p34.2
Locus type	gene with protein product
Status	Approved
Aliases	DYT18, DYT9, GLUT-1
Ensembl gene	ENSG00000117394
Ensembl biotype	protein_coding
OMIM	138140
Entrez	6513

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 12 protein_coding, 7 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000372500, ENST00000415851, ENST00000426263, ENST00000460369, ENST00000475162, ENST00000625233, ENST00000629908, ENST00000630287, ENST00000630821, ENST00000669445, ENST00000674545, ENST00000674765, ENST00000675112, ENST00000676097, ENST00000676254, ENST00000889576, ENST00000889577, ENST00000938860, ENST00000938861, ENST00000938862, ENST00000958848, ENST00000958849

RefSeq mRNA: 1 — MANE Select: NM_006516 NM_006516

CCDS: CCDS477

Canonical transcript exons

ENST00000426263 — 10 exons

Exon	Start	End
ENSE00000769554	42927605	42927808
ENSE00000769555	42928932	42929033
ENSE00000769556	42929210	42929314
ENSE00000769557	42929593	42929780
ENSE00000769558	42929873	42930035
ENSE00000870228	42943226	42943321
ENSE00001457962	42925353	42927241
ENSE00003545179	42930626	42930866
ENSE00003571441	42931046	42931206
ENSE00003764341	42958634	42958868

Expression profiles

Bgee: expression breadth ubiquitous, 250 present calls, max score 99.39.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 117.7034 / max 3218.3155, expressed in 1809 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
12017	115.3681	1807
12011	0.6207	349
12015	0.5769	305
12012	0.5563	276
12013	0.3227	192
12014	0.2587	146

Top tissues by expression

284 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
tibial nerve	UBERON:0001323	99.39	gold quality
sural nerve	UBERON:0015488	98.74	gold quality
skin of abdomen	UBERON:0001416	98.55	gold quality
skin of leg	UBERON:0001511	98.50	gold quality
lower esophagus mucosa	UBERON:0035834	98.10	gold quality
pigmented layer of retina	UBERON:0001782	98.02	gold quality
esophagus mucosa	UBERON:0002469	97.23	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.87	gold quality
ectocervix	UBERON:0012249	96.73	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.71	gold quality
endothelial cell	CL:0000115	96.58	gold quality
pancreatic ductal cell	CL:0002079	96.55	gold quality
placenta	UBERON:0001987	96.46	gold quality
stromal cell of endometrium	CL:0002255	96.12	gold quality
zone of skin	UBERON:0000014	96.04	gold quality
adrenal tissue	UBERON:0018303	95.74	gold quality
endocervix	UBERON:0000458	95.69	gold quality
vagina	UBERON:0000996	95.06	gold quality
right frontal lobe	UBERON:0002810	95.06	gold quality
ventricular zone	UBERON:0003053	94.74	gold quality
ganglionic eminence	UBERON:0004023	94.17	gold quality
spinal cord	UBERON:0002240	93.84	gold quality
hypothalamus	UBERON:0001898	93.81	gold quality
caudate nucleus	UBERON:0001873	93.57	gold quality
putamen	UBERON:0001874	93.55	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.54	gold quality
cervix squamous epithelium	UBERON:0006922	93.42	gold quality
amygdala	UBERON:0001876	93.32	gold quality
ascending aorta	UBERON:0001496	92.95	gold quality
right uterine tube	UBERON:0001302	92.81	gold quality

Single-cell (SCXA)

Detected in 21 experiment(s), a significant marker in 19.

Experiment	Marker?	Max mean expression
E-GEOD-84465	yes	1862.60
E-MTAB-11121	yes	1592.04
E-MTAB-10662	yes	1243.80
E-ENAD-20	yes	1128.67
E-GEOD-137537	yes	1039.46
E-CURD-7	yes	937.17
E-MTAB-9221	yes	904.81
E-ENAD-21	yes	748.39
E-MTAB-10042	yes	445.11
E-MTAB-6701	yes	126.61
E-CURD-112	yes	57.83
E-HCAD-35	yes	24.41
E-MTAB-8410	yes	23.37
E-HCAD-10	yes	18.41
E-MTAB-9388	yes	13.06

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AHR, AKT1, AR, ATM, CREB1, ELK1, FOXO3, HDAC5, HIF1A, MYC, MYOD1, NFKB, NR3C1, OCLN, PARP1, PPARD, PPARG, SP1, SP3, SRF, TAF1, TBXT, THRB, TP53

miRNA regulators (miRDB)

127 targeting SLC2A1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 40.5% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 40)

• GLUT1 mediates the transport of glucose across the plasma membrane down a concentration gradient without a specifc requirement for energy or hydrolysis of ATP, however, the ATP-binding domains are critical for transporter activity and kinetic properties. (PMID:11425315)
• Review: structure of the human erythrocyte facilitative glucose transporter (GLUT1) (PMID:11681785)
• GLUT1 is a cooperative tetramer of proteins, each presenting a translocation pathway that alternates between uptake and export states in which, at any instant, two subunits must present sugar uptake and two subunits must present sugar exit states. (PMID:11747430)
• marker for discriminating hepatocellular carcinoma from other carcinomas (PMID:11836704)
• consistent marker of ovarian epithelial malignancy (PMID:11920478)
• Carcinoma samples displaying reduced levels of MCT1 were found to express the high affinity glucose transporter, GLUT1, suggesting that there is a switch from butyrate to glucose as an energy source in colonic epithelia during transition to malignancy (PMID:11953883)
• GLUT1 is expressed by normal articular chondrocytes. (PMID:11991658)
• observed differential response of individual isoforms GLUT1, GLUT3, & GLUT4 in neutrophils and granulocytes to hypoglycemia may represent a mechanism to protect the cells from the stress of glucose deprivation (PMID:12064911)
• polymorphism has an effect on susceptibility to diabetic nephropathy in IDDM (PMID:12086959)
• glucose transporter 1 and 3 in the placenta (PMID:12112827)
• Coexpression of glucose transporter 1 and matrix metalloproteinase-2 in human cancers (PMID:12122099)
• Results describe a possible non-genomic site of estrogen action near the hydrophilic pore of GLUT1. (PMID:12133004)
• The expression of the glucose transporter 1 was downregulated by up to 80% in the failing heart. (PMID:12145475)
• Cooperative nucleotide binding to GLUT1 and nucleotide modulation of GLUT1-mediated sugar transport are regulated by a proton-sensitive saltbridge (Glu329-Arg333/334). (PMID:12379105)
• TNP-ATP binding to glucose transporter GLUT1 has been modeled as a cooperative process in which each GLUT1 protein in a complex of four proteins (subunits) presents a single nucleotide binding domain. (PMID:12379106)
• HTLV receptor expression is an early marker of T-cell cell-cycle entry. Up-regulation of the HTLV receptor, via signals transmitted through the IL-7 cytokine receptor & the TCR, may contribute to mother-to-infant transmission & spreading of HTLV-1. (PMID:12393496)
• Basal membrane GLUT1 is upregulated over gestation, increased in diabetic pregnancy, and decreased in chronic hypoxia, while microvillous membrane GLUT1 is unaffected. (review) (PMID:12583599)
• To characterize seizure types and electroencephalographic features of glucose transporter type 1 deficiency syndrome (Glut-1 DS). (PMID:12752470)
• Data show that by using RNA interference, glucose transporter 1 (GLUT1) mRNA and protein expression is reduced, leading to inhibition of a serum-mediated increase in glucose transport. (PMID:12849991)
• increased GLUT-1 expression in rectal tumours was an adverse prognostic factor (PMID:12942120)
• Overexpression of GLUT1 leads to cytosolic alkalinization of mesangial cells depending on functional Na+/H+ exchanger but not on Na+ independent H+ transport. (PMID:12969152)
• GLUT-1 is a receptor for HTLV (PMID:14622599)
• differences in GLUT1 receptor mRNA expression in two breast cancer cell lines with higher expression in MDA-MB-231; results show that invasiveness of cancer cells may be associated with the expression of glucose transporters, including GLUT1 (PMID:14674124)
• description of two-dimensional models for the orientation of the 12 transmembrane helices and the conformation of the exofacial glucose binding site of GLUT1 (PMID:14688257)
• Differentiation of THP-1 monocytes into macrophages was associated with marked induction of GLUT 3 and GLUT 5 protein expression, and high levels of GLUT 1, GLUT 3, and GLUT 5 were maintained after transformation to foam cells. (PMID:14757434)
• There are two fundamentally different hepatic vascular lesions in infants and young children: GLUT1-positive hepatic infantile hemangioma (HIH) and GLUT1-negative hepatic vascular malformation with capillary proliferation (HVMCP). (PMID:14991538)
• Relative proximity and orientation of helices 4 and 8 of the GLUT1 glucose transporter (PMID:15073187)
• Glut1 is a useful marker of intraneural perineurioma (PMID:15086844)
• hnRNP A2 acts on GLUT1 mRNA to inhibit expression of GLUT1 in a brain cancer cell line. (PMID:15147968)
• High GLUT1 mRNA levels were observed only in ovarian cancer. The intensity of GLUT1 expression in malignant ovarian neoplasms was associated neither with tumor characteristics nor with patient survival. (PMID:15331928)
• Basal or stimulated ROS production and Glut1 activity were significantly reduced by pretreating both cell lines with EUK-134 (PMID:15454279)
• Levels of GLUT1 mRNA expression in skin fibroblasts from “slow-track” patients were greater than those from “fast-track” patients with diabetic nephropathy. (PMID:15502921)
• Data support a GluT1-mediated red blood cell sugar transport mechanism in which newly bound sugars are transiently sequestered within the translocation pathway where they become inaccessible to extra- and intracellular water. (PMID:15709778)
• Oolymorphisms in the GLUT1 gene are associated with susceptibility to diabetic nephropathy. (PMID:15745834)
• results provide additional evidence that glut-1 is a receptor for HTLV (PMID:15767416)
• it is reported in this study that TGF-beta induces binding of HTLV virions and expression of glucose transporter type 1 in primary CD4(+) T lymphocytes that remain quiescent (PMID:15778389)
• operational properties of GLUT1 are determined by host cell environment (PMID:15823019)
• CA IX and GLUT 1 as well as VEGF and IL 6 have roles in response of in head and neck squamous cell carcinoma to radiotherapy +/- chemotherapy (PMID:15847702)
• bFGF and GLUT1 play important roles in the carcinogenesis and progression of ovarian epithelial carcinoma. (PMID:15924676)
• distinct domains of the glucose transporter GLUT1 mediate HTLV envelope binding and virus entry (PMID:15955807)

Cross-species orthologs

46 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc2a1a	ENSDARG00000001437
danio_rerio	slc2a1b	ENSDARG00000007412
mus_musculus	Slc2a1	ENSMUSG00000028645
rattus_norvegicus	Slc2a1	ENSRNOG00000007284
drosophila_melanogaster	Glut3	FBGN0015230
drosophila_melanogaster	sut4	FBGN0028560
drosophila_melanogaster	sut3	FBGN0028561
drosophila_melanogaster	sut2	FBGN0028562
drosophila_melanogaster	sut1	FBGN0028563
drosophila_melanogaster	CG4607	FBGN0029932
drosophila_melanogaster	CG15406	FBGN0031517
drosophila_melanogaster	CG8837	FBGN0031520
drosophila_melanogaster	CG3285	FBGN0031522
drosophila_melanogaster	CG15408	FBGN0031523
drosophila_melanogaster	CG7882	FBGN0033047
drosophila_melanogaster	Tret1-2	FBGN0033644
drosophila_melanogaster	CG8249	FBGN0034045
drosophila_melanogaster	CG6484	FBGN0034247
drosophila_melanogaster	CG14160	FBGN0036066
drosophila_melanogaster	nebu	FBGN0036316
drosophila_melanogaster	CG1208	FBGN0037386
drosophila_melanogaster	CG14606	FBGN0037485
drosophila_melanogaster	CG14605	FBGN0037486
drosophila_melanogaster	CG6901	FBGN0038414
drosophila_melanogaster	CG17929	FBGN0038415
drosophila_melanogaster	CG17930	FBGN0038416
drosophila_melanogaster	Tret1-1	FBGN0050035
drosophila_melanogaster	CG32053	FBGN0052053
drosophila_melanogaster	CG32054	FBGN0052054
drosophila_melanogaster	CG33281	FBGN0053281
drosophila_melanogaster	CG33282	FBGN0053282
drosophila_melanogaster	Srg2	FBGN0262007
drosophila_melanogaster	CG42826	FBGN0262008
caenorhabditis_elegans		WBGENE00008730
caenorhabditis_elegans		WBGENE00010684
caenorhabditis_elegans		WBGENE00010811
caenorhabditis_elegans		WBGENE00012536
caenorhabditis_elegans		WBGENE00013074
caenorhabditis_elegans		WBGENE00016431
caenorhabditis_elegans		WBGENE00017382
caenorhabditis_elegans		WBGENE00019207
caenorhabditis_elegans		WBGENE00019547
caenorhabditis_elegans		WBGENE00019548
caenorhabditis_elegans		WBGENE00019549
caenorhabditis_elegans		WBGENE00019550
caenorhabditis_elegans		WBGENE00043980

Paralogs (13): SLC2A3 (ENSG00000059804), SLC2A9 (ENSG00000109667), SLC2A11 (ENSG00000133460), SLC2A8 (ENSG00000136856), SLC2A5 (ENSG00000142583), SLC2A12 (ENSG00000146411), SLC2A13 (ENSG00000151229), SLC2A6 (ENSG00000160326), SLC2A2 (ENSG00000163581), SLC2A14 (ENSG00000173262), SLC2A4 (ENSG00000181856), SLC2A7 (ENSG00000197241), SLC2A10 (ENSG00000197496)

Protein

Protein identifiers

Solute carrier family 2, facilitated glucose transporter member 1 — P11166 (reviewed: P11166)

Alternative names: Glucose transporter type 1, erythrocyte/brain, HepG2 glucose transporter

All UniProt accessions (6): A0A0D9SFK9, A0A0D9SG74, A0A1W2PQ59, A0A6Q8PFI8, A6NL68, P11166

UniProt curated annotations — full annotation on UniProt →

Function. Facilitative glucose transporter, which is responsible for constitutive or basal glucose uptake. Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses. Most important energy carrier of the brain: present at the blood-brain barrier and assures the energy-independent, facilitative transport of glucose into the brain. In association with BSG and NXNL1, promotes retinal cone survival by increasing glucose uptake into photoreceptors. Required for mesendoderm differentiation.

Subunit / interactions. Interacts with GIPC (via PDZ domain). Found in a complex with ADD2, DMTN and SLC2A1. Interacts (via C-terminus cytoplasmic region) with DMTN isoform 2. Interacts with SNX27; the interaction is required when endocytosed to prevent degradation in lysosomes and promote recycling to the plasma membrane. Interacts with STOM. Interacts with SGTA (via Gln-rich region). Interacts with isoform 1 of BSG.

Subcellular location. Cell membrane. Melanosome. Photoreceptor inner segment.

Tissue specificity. Detected in erythrocytes (at protein level). Expressed at variable levels in many human tissues.

Post-translational modifications. Phosphorylation at Ser-226 by PKC promotes glucose uptake by increasing cell membrane localization.

Disease relevance. GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777] A neurologic disorder showing wide phenotypic variability. The most severe ‘classic’ phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring spells, and episodic eye movements, occurs within the first 4 months of life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe intellectual disability. The disease is caused by variants affecting the gene represented in this entry. GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126] A clinically variable disorder characterized primarily by onset in childhood of paroxysmal exercise-induced dyskinesia. The dyskinesia involves transient abnormal involuntary movements, such as dystonia and choreoathetosis, induced by exercise or exertion, and affecting the exercised limbs. Some patients may also have epilepsy, most commonly childhood absence epilepsy. Mild intellectual disability may also occur. In some patients involuntary exertion-induced dystonic, choreoathetotic, and ballistic movements may be associated with macrocytic hemolytic anemia. The disease is caused by variants affecting the gene represented in this entry. Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847] A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. In some EIG12 patients seizures may remit with age. Disease susceptibility is associated with variants affecting the gene represented in this entry. Dystonia 9 (DYT9) [MIM:601042] An autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most patients show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia. The disease is caused by variants affecting the gene represented in this entry. Stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN) [MIM:608885] A rare form of stomatocytosis characterized by episodic hemolytic anemia, cold-induced red cells cation leak, erratic hyperkalemia, neonatal hyperbilirubinemia, hepatosplenomegaly, cataracts, seizures, intellectual disability, and movement disorder. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. The uptake of glucose is inhibited by cytochalasin B and Phe-amide core-scaffold inhibitors GLUT-i1 and GLUT-i2. These inhibitors bind in the central cavity of the inward-open state and overlap the glucose-binding site. Glucose uptake is increased in response to phorbol ester 12-O-tetradecanoylphorbol-13-acetate (TPA) treatment: TPA-induced glucose uptake requires phosphorylation at Ser-226. Interacts with SMIM43; the interaction may promote SLC2A1-mediated glucose transport to meet the energy needs of mesendoderm differentiation.

Pathway. Carbohydrate degradation.

Similarity. Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.

RefSeq proteins (1): NP_006507* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002439	Glu_transpt_1	Family
IPR003663	Sugar/inositol_transpt	Family
IPR005828	MFS_sugar_transport-like	Family
IPR005829	Sugar_transporter_CS	Conserved_site
IPR020846	MFS_dom	Domain
IPR036259	MFS_trans_sf	Homologous_superfamily
IPR045263	GLUT	Family

Pfam: PF00083

Catalyzed reactions (Rhea), 1 shown:

• D-glucose(out) = D-glucose(in) (RHEA:60376)

UniProt features (140 total): sequence variant 53, helix 26, topological domain 13, transmembrane region 12, turn 8, binding site 8, mutagenesis site 6, modified residue 5, sequence conflict 4, chain 1, strand 1, region of interest 1, site 1, glycosylation site 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
6THA	X-RAY DIFFRACTION	2.4
5EQG	X-RAY DIFFRACTION	2.9
5EQH	X-RAY DIFFRACTION	2.99
5EQI	X-RAY DIFFRACTION	3
4PYP	X-RAY DIFFRACTION	3.17

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P11166-F1	90.30	0.74

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 411 (not glycosylated)

Ligand- & substrate-binding residues (8): 137; 282–283; 282; 288; 317; 380; 388; 411

Post-translational modifications (5): 1, 226, 465, 478, 490

Glycosylation sites (1): 45

Mutagenesis-validated functional residues (6):

Position	Phenotype
340	strongly decreases glucose transport.
45	loss of glycosylation site.
192	strongly decreases glucose transport.
204	abolishes glucose transport.
205	abolishes glucose transport.
226	abolishes phosphorylation by pka, leading to impaired response to tpa.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-189200	Cellular hexose transport
R-HSA-196836	Vitamin C (ascorbate) metabolism
R-HSA-422356	Regulation of insulin secretion
R-HSA-5619043	Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1)
R-HSA-5653890	Lactose synthesis

MSigDB gene sets: 844 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, GSE45365_NK_CELL_VS_BCELL_UP, MORF_RAGE, MODULE_52, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_CARBOHYDRATE_TRANSPORT, MORF_FLT1, KEGG_ADIPOCYTOKINE_SIGNALING_PATHWAY, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, HARRIS_HYPOXIA, MORF_MSH3, GOBP_CIRCULATORY_SYSTEM_PROCESS, JAEGER_METASTASIS_DN, GOBP_CELLULAR_RESPONSE_TO_EXTERNAL_STIMULUS

GO Biological Process (24): response to hypoxia (GO:0001666), central nervous system development (GO:0007417), female pregnancy (GO:0007565), long-chain fatty acid import across plasma membrane (GO:0015911), L-ascorbic acid metabolic process (GO:0019852), cerebral cortex development (GO:0021987), response to insulin (GO:0032868), cellular response to glucose starvation (GO:0042149), GDP-L-fucose salvage (GO:0042352), photoreceptor cell maintenance (GO:0045494), obsolete D-glucose import (GO:0046323), protein-containing complex assembly (GO:0065003), dehydroascorbic acid transport (GO:0070837), cellular response to mechanical stimulus (GO:0071260), cellular hyperosmotic response (GO:0071474), D-glucose import across plasma membrane (GO:0098708), transport across blood-brain barrier (GO:0150104), response to Thyroglobulin triiodothyronine (GO:1904016), D-glucose transmembrane transport (GO:1904659), hexose transmembrane transport (GO:0008645), fucose transmembrane transport (GO:0015756), xenobiotic transport (GO:0042908), transmembrane transport (GO:0055085), fructose import across plasma membrane (GO:1990539)

GO Molecular Function (11): long-chain fatty acid transmembrane transporter activity (GO:0005324), fucose transmembrane transporter activity (GO:0015150), kinase binding (GO:0019900), dehydroascorbic acid transmembrane transporter activity (GO:0033300), identical protein binding (GO:0042802), xenobiotic transmembrane transporter activity (GO:0042910), D-glucose transmembrane transporter activity (GO:0055056), fructose transmembrane transporter activity (GO:0005353), protein binding (GO:0005515), hexose transmembrane transporter activity (GO:0015149), transmembrane transporter activity (GO:0022857)

GO Cellular Component (25): Golgi membrane (GO:0000139), female germ cell nucleus (GO:0001674), photoreceptor inner segment (GO:0001917), female pronucleus (GO:0001939), cytosol (GO:0005829), plasma membrane (GO:0005886), caveola (GO:0005901), intercalated disc (GO:0014704), membrane (GO:0016020), basolateral plasma membrane (GO:0016323), apical plasma membrane (GO:0016324), Z disc (GO:0030018), midbody (GO:0030496), cortical actin cytoskeleton (GO:0030864), sarcolemma (GO:0042383), melanosome (GO:0042470), extracellular exosome (GO:0070062), blood microparticle (GO:0072562), presynapse (GO:0098793), glucose transporter complex (GO:1990350), cytoplasm (GO:0005737), cell-cell junction (GO:0005911), vesicle (GO:0031982), membrane raft (GO:0045121), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
SLC-mediated transmembrane transport	1
Metabolism of water-soluble vitamins and cofactors	1
Integration of energy metabolism	1
SLC transporter disorders	1
Metabolism of carbohydrates and carbohydrate derivatives	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	7
hexose transmembrane transporter activity	3
hexose transmembrane transport	2
plasma membrane region	2
response to stress	1
response to decreased oxygen levels	1
nervous system development	1
system development	1
multi-organism reproductive process	1
multi-multicellular organism process	1
long-chain fatty acid import into cell	1
import across plasma membrane	1
fatty acid transmembrane transport	1
monosaccharide metabolic process	1
carboxylic acid metabolic process	1
lactone metabolic process	1
pallium development	1
anatomical structure development	1
response to peptide hormone	1
cellular response to starvation	1
GDP-L-fucose biosynthetic process	1
metabolic compound salvage	1
retina homeostasis	1
multicellular organismal process	1
cellular component assembly	1
protein-containing complex organization	1
vitamin transport	1
response to mechanical stimulus	1
cellular response to abiotic stimulus	1
cellular response to external stimulus	1
hyperosmotic response	1
cellular response to osmotic stress	1
hexose import across plasma membrane	1
D-glucose transmembrane transport	1
vascular transport	1
response to chemical	1
monosaccharide transmembrane transport	1
fatty acid transmembrane transporter activity	1
long-chain fatty acid transport	1
fucose transmembrane transport	1

Protein interactions and networks

STRING

5112 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC2A1	HIF1A	Q16665	895
SLC2A1	BSG	P35613	892
SLC2A1	EPAS1	Q99814	883
SLC2A1	SLC5A1	P13866	865
SLC2A1	LDHA	P00338	850
SLC2A1	INS	P01308	848
SLC2A1	STOM	P27105	833
SLC2A1	CA9	Q16790	832
SLC2A1	NRP1	O14786	819
SLC2A1	TNF	P01375	816
SLC2A1	HK2	P52789	798
SLC2A1	PKM	P14618	794
SLC2A1	PTN	P21246	792
SLC2A1	SLC16A3	O15427	780
SLC2A1	SLC16A4	O15374	775

IntAct

247 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
SLC4A1	GYPA	psi-mi:“MI:0403”(colocalization)	0.660
SLC2A1	SYNJ2BP	psi-mi:“MI:0407”(direct interaction)	0.590
SLC2A1	CREB3	psi-mi:“MI:0915”(physical association)	0.560
ILK	HAX1	psi-mi:“MI:0914”(association)	0.530
IRAK1	SEC16A	psi-mi:“MI:0914”(association)	0.530
SLC4A1	FLOT1	psi-mi:“MI:0914”(association)	0.530
SLC2A1	ATP11C	psi-mi:“MI:0914”(association)	0.530
TIMMDC1	NDUFS8	psi-mi:“MI:0914”(association)	0.530
ATP6V0A1	ATP6AP2	psi-mi:“MI:0914”(association)	0.530
SYNJ2BP	FLOT1	psi-mi:“MI:0914”(association)	0.530
VCAM1	PSMD11	psi-mi:“MI:0914”(association)	0.530
CFTR	CNOT1	psi-mi:“MI:0914”(association)	0.480
SLC4A1	SLC2A1	psi-mi:“MI:0914”(association)	0.460
SLC4A1	SLC2A1	psi-mi:“MI:0403”(colocalization)	0.460
SLC2A1	RHPN1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC2A1	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
SLC2A1	PDZD2	psi-mi:“MI:0407”(direct interaction)	0.440
SLC2A1	PTPN3	psi-mi:“MI:0407”(direct interaction)	0.440
SLC2A1	SNX27	psi-mi:“MI:0407”(direct interaction)	0.440
SLC2A1	DLG3	psi-mi:“MI:0407”(direct interaction)	0.440
SLC2A1	SCRIB	psi-mi:“MI:0407”(direct interaction)	0.440
SLC2A1	MAGI2	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (352): SLC2A1 (Affinity Capture-Western), SLC2A1 (Affinity Capture-MS), SLC2A1 (Affinity Capture-MS), SLC2A1 (Affinity Capture-MS), SLC2A1 (Affinity Capture-MS), SLC2A1 (Two-hybrid), SLC2A1 (Affinity Capture-MS), SLC2A1 (Affinity Capture-MS), SLC2A1 (Affinity Capture-MS), SLC2A1 (Affinity Capture-MS), SLC2A1 (Affinity Capture-MS), SLC2A1 (Affinity Capture-MS), SLC2A1 (Affinity Capture-RNA), LMP1 (Affinity Capture-Western), SLC2A1 (Affinity Capture-MS)

ESM2 similar proteins: A4ZYQ5, O35956, O57379, O62786, O62787, P0C6A1, P11166, P11167, P11168, P11169, P12336, P13355, P14142, P14246, P14672, P17809, P19357, P20303, P22732, P27674, P28568, P32037, P43427, P46896, P47842, P47843, P58351, P58352, P58353, P79365, Q07647, Q27994, Q28ES4, Q5R608, Q5RET7, Q66J52, Q6A4L0, Q6DFR1, Q6NUB3, Q6NYN7

Diamond homologs: A0A0H2VG78, A0A1D8PH98, A9ZSY3, B4HNS1, B4QBN3, C0SPB2, F1R0H0, J9VHZ4, O04249, O23492, O34718, O52733, O62786, O62787, O65413, P0AE24, P0AE25, P0AEP1, P0AEP2, P0AGF4, P0AGF5, P11166, P11167, P11169, P12336, P13355, P14246, P15686, P15729, P17809, P23586, P27674, P30605, P30606, P32037, P39924, P45598, P46333, P46896, P47185

SIGNOR signaling

13 interactions.

A	Effect	B	Mechanism
AKT1	“up-regulates quantity by expression”	SLC2A1	“transcriptional regulation”
STOM	“down-regulates activity”	SLC2A1	binding
SLC2A1	“form complex”	“Ankyrin complex”	binding
SLC2A1	“form complex”	“4.1 complex”	binding
“HIF-1 complex”	“up-regulates quantity by expression”	SLC2A1	“transcriptional regulation”
SLC2A1	“up-regulates quantity”	α-D-glucose	relocalization
SLC2A1	“up-regulates quantity”	glucose	relocalization
TP53	“down-regulates quantity by repression”	SLC2A1	“transcriptional regulation”
AKT	“up-regulates quantity by expression”	SLC2A1	“transcriptional regulation”
SP1	“up-regulates quantity by expression”	SLC2A1	“transcriptional regulation”
MYC	“up-regulates quantity”	SLC2A1	“transcriptional regulation”
“HIF-1 complex”	“up-regulates quantity”	SLC2A1	“transcriptional regulation”
YAP1	“up-regulates quantity by expression”	SLC2A1	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 178 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Ras activation upon Ca2+ influx through NMDA receptor	5	22.3×	3e-04
Unblocking of NMDA receptors, glutamate binding and activation	5	21.2×	3e-04
Negative regulation of NMDA receptor-mediated neuronal transmission	5	21.2×	3e-04
Assembly and cell surface presentation of NMDA receptors	10	19.8×	4e-08
Dopamine Neurotransmitter Release Cycle	5	19.4×	5e-04
Long-term potentiation	5	18.6×	5e-04
Neurexins and neuroligins	10	15.4×	3e-07
Protein-protein interactions at synapses	6	12.4×	5e-04

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	9	33.5×	5e-09
receptor clustering	6	24.0×	4e-05
regulation of postsynaptic membrane neurotransmitter receptor levels	7	22.2×	1e-05
positive regulation of protein localization to plasma membrane	6	10.4×	4e-03
exocytosis	10	9.7×	3e-05
establishment of localization in cell	7	7.2×	7e-03
positive regulation of cytosolic calcium ion concentration	8	6.0×	7e-03
protein transport	15	4.2×	6e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

1232 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	239
Likely pathogenic	79
Uncertain significance	438
Likely benign	273
Benign	46

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1027520	NM_006516.4(SLC2A1):c.136C>T (p.Gln46Ter)	Pathogenic
1048756	NM_006516.4(SLC2A1):c.275+1del	Pathogenic
1068834	NM_006516.4(SLC2A1):c.294_310del (p.Met98fs)	Pathogenic
1069398	NM_006516.4(SLC2A1):c.558G>A (p.Trp186Ter)	Pathogenic
1069807	NM_006516.4(SLC2A1):c.1017dup (p.Gly340fs)	Pathogenic
1070464	NM_006516.4(SLC2A1):c.833T>C (p.Leu278Pro)	Pathogenic
1072451	NM_006516.4(SLC2A1):c.385dup (p.Ile129fs)	Pathogenic
1072747	NM_006516.4(SLC2A1):c.680-2del	Pathogenic
1073271	NM_006516.4(SLC2A1):c.634del (p.Arg212fs)	Pathogenic
1073489	NM_006516.4(SLC2A1):c.972+1G>C	Pathogenic
1075336	NM_006516.4(SLC2A1):c.751_757dup (p.Arg253fs)	Pathogenic
1076091	NM_006516.4(SLC2A1):c.451dup (p.Ala151fs)	Pathogenic
1076377	NM_006516.4(SLC2A1):c.457C>T (p.Arg153Cys)	Pathogenic
1120159	Single allele	Pathogenic
1173043	NM_006516.4(SLC2A1):c.1234T>C (p.Trp412Arg)	Pathogenic
1184109	NM_006516.4(SLC2A1):c.868-2A>G	Pathogenic
1189059	NM_006516.4(SLC2A1):c.399C>A (p.Cys133Ter)	Pathogenic
1254825	NM_006516.4(SLC2A1):c.275+1G>C	Pathogenic
1323607	NM_006516.4(SLC2A1):c.136_140del (p.Gln46fs)	Pathogenic
1323608	NM_006516.4(SLC2A1):c.54_114+1del	Pathogenic
1326270	NM_006516.4(SLC2A1):c.1350_1351del (p.Phe450fs)	Pathogenic
1328934	NM_006516.4(SLC2A1):c.1043_1044insT (p.Ile349fs)	Pathogenic
1335936	NM_006516.4(SLC2A1):c.739G>T (p.Glu247Ter)	Pathogenic
1385165	NM_006516.4(SLC2A1):c.388G>T (p.Gly130Cys)	Pathogenic
1391601	NM_006516.4(SLC2A1):c.1075G>T (p.Glu359Ter)	Pathogenic
1414518	NM_006516.4(SLC2A1):c.844del (p.Gln282fs)	Pathogenic
1436457	NM_006516.4(SLC2A1):c.491TCG[2] (p.Val166del)	Pathogenic
1437184	NM_006516.4(SLC2A1):c.898A>T (p.Lys300Ter)	Pathogenic
1438958	NM_006516.4(SLC2A1):c.1412del (p.Gly471fs)	Pathogenic
1440651	NM_006516.4(SLC2A1):c.1266C>A (p.Phe422Leu)	Pathogenic

SpliceAI

1200 predictions. Top by Δscore:

Variant	Effect	Δscore
1:42927237:AGTTG:A	acceptor_gain	1.0000
1:42927238:GTTG:G	acceptor_gain	1.0000
1:42927239:TTG:T	acceptor_gain	1.0000
1:42927240:TG:T	acceptor_gain	1.0000
1:42927240:TGC:T	acceptor_loss	1.0000
1:42927241:GC:G	acceptor_loss	1.0000
1:42927242:C:A	acceptor_loss	1.0000
1:42927242:C:CC	acceptor_gain	1.0000
1:42927243:T:G	acceptor_loss	1.0000
1:42927601:TCA:T	donor_loss	1.0000
1:42927602:CACC:C	donor_loss	1.0000
1:42927604:C:CA	donor_loss	1.0000
1:42927804:TGCTC:T	acceptor_gain	1.0000
1:42927805:GCTC:G	acceptor_gain	1.0000
1:42927806:CTC:C	acceptor_gain	1.0000
1:42927806:CTCC:C	acceptor_gain	1.0000
1:42927807:TC:T	acceptor_gain	1.0000
1:42927807:TCCT:T	acceptor_gain	1.0000
1:42927808:CC:C	acceptor_gain	1.0000
1:42927809:C:CA	acceptor_loss	1.0000
1:42927809:C:CC	acceptor_gain	1.0000
1:42927810:T:A	acceptor_loss	1.0000
1:42927812:T:TC	acceptor_gain	1.0000
1:42927818:A:AC	acceptor_gain	1.0000
1:42927818:A:C	acceptor_gain	1.0000
1:42927822:C:CT	acceptor_gain	1.0000
1:42928925:AACTC:A	donor_loss	1.0000
1:42928926:ACTCA:A	donor_loss	1.0000
1:42928927:CTCAC:C	donor_loss	1.0000
1:42928928:TCA:T	donor_loss	1.0000

AlphaMissense

3188 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:42927738:C:T	G382D	0.999
1:42927739:C:G	G382R	0.999
1:42927746:A:C	F379L	0.999
1:42927746:A:T	F379L	0.999
1:42927748:A:G	F379L	0.999
1:42929603:C:T	G286D	0.999
1:42930753:C:T	G130D	0.999
1:42930754:C:G	G130R	0.999
1:42943260:C:T	G27D	0.999
1:42927165:A:T	V452D	0.998
1:42927617:G:C	F422L	0.998
1:42927617:G:T	F422L	0.998
1:42927619:A:G	F422L	0.998
1:42927649:A:G	W412R	0.998
1:42927649:A:T	W412R	0.998
1:42927650:G:C	N411K	0.998
1:42927650:G:T	N411K	0.998
1:42927675:G:T	A403D	0.998
1:42927698:G:C	F395L	0.998
1:42927698:G:T	F395L	0.998
1:42927700:A:G	F395L	0.998
1:42927721:A:G	W388R	0.998
1:42927721:A:T	W388R	0.998
1:42927732:C:T	G384D	0.998
1:42927733:C:G	G384R	0.998
1:42928978:C:T	G343D	0.998
1:42928987:C:T	G340D	0.998
1:42928988:C:G	G340R	0.998
1:42929231:G:C	N317K	0.998
1:42929231:G:T	N317K	0.998

dbSNP variants (sampled 300 via entrez): RS1000022160 (1:42946861 A>G), RS1000064529 (1:42957594 T>C), RS1000164322 (1:42945162 T>G), RS1000184234 (1:42952826 C>A), RS1000237292 (1:42944926 C>T), RS1000272404 (1:42951074 A>C), RS1000369059 (1:42939590 G>T), RS1000427157 (1:42958084 G>A,C), RS1000450339 (1:42924862 G>A), RS1000570022 (1:42946224 T>A,G), RS1000633105 (1:42930839 C>T), RS1000803674 (1:42939299 G>A), RS1000881017 (1:42934656 T>C), RS1001022640 (1:42947894 A>G), RS1001061421 (1:42942039 T>C)

Disease associations

OMIM: gene MIM:138140 | disease phenotypes: MIM:606777, MIM:601042, MIM:608885, MIM:612126, MIM:614847, MIM:613355, MIM:308350, MIM:616421, MIM:130650, MIM:117100

GenCC curated gene-disease

Disease	Classification	Inheritance
encephalopathy due to GLUT1 deficiency	Definitive	Autosomal dominant
dystonia 9	Strong	Autosomal dominant
childhood onset GLUT1 deficiency syndrome 2	Strong	Autosomal dominant
epilepsy, idiopathic generalized, susceptibility to, 12	Strong	Autosomal dominant
GLUT1 deficiency syndrome	Strong	Semidominant
hereditary cryohydrocytosis with reduced stomatin	Supportive	Autosomal dominant
myoclonic-astatic epilepsy	Supportive	Unknown
childhood absence epilepsy	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
GLUT1 deficiency syndrome	Definitive	AD

Mondo (22): encephalopathy due to GLUT1 deficiency (MONDO:0011724), dystonia 9 (MONDO:0010983), hereditary cryohydrocytosis with reduced stomatin (MONDO:0012143), childhood onset GLUT1 deficiency syndrome 2 (MONDO:0012805), epilepsy, idiopathic generalized, susceptibility to, 12 (MONDO:0013919), GLUT1 deficiency syndrome (MONDO:0000188), chromosome 17q23.1-q23.2 deletion syndrome (MONDO:0013238), intellectual disability (MONDO:0001071), developmental and epileptic encephalopathy, 1 (MONDO:0010632), epilepsy with myoclonic atonic seizures (MONDO:0014633), parkinsonian disorder (MONDO:0021095), microcephaly (MONDO:0001149), epilepsy (MONDO:0005027), cerebellar ataxia (MONDO:0000437), migraine disorder (MONDO:0005277)

Orphanet (11): Classic glucose transporter type 1 deficiency syndrome (Orphanet:71277), Hereditary cryohydrocytosis with reduced stomatin (Orphanet:168577), Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity (Orphanet:53583), Paroxysmal exertion-induced dyskinesia (Orphanet:98811), 17q23.1q23.2 microdeletion syndrome (Orphanet:261279), Epilepsy with myoclonic-atonic seizures (Orphanet:1942), Rare ataxia (Orphanet:102002), Paroxysmal dystonia (Orphanet:200037), Beckwith-Wiedemann syndrome (Orphanet:116), Self-limited epilepsy with centrotemporal spikes (Orphanet:1945), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

195 total (30 of 195 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000154	Wide mouth
HP:0000179	Thick lower lip vermilion
HP:0000219	Thin upper lip vermilion
HP:0000252	Microcephaly
HP:0000253	Progressive microcephaly
HP:0000256	Macrocephaly
HP:0000289	Broad philtrum
HP:0000297	Facial hypotonia
HP:0000343	Long philtrum
HP:0000348	High forehead
HP:0000400	Macrotia
HP:0000431	Wide nasal bridge
HP:0000463	Anteverted nares
HP:0000470	Short neck
HP:0000475	Broad neck
HP:0000486	Strabismus
HP:0000518	Cataract
HP:0000565	Esotropia
HP:0000568	Microphthalmia
HP:0000577	Exotropia
HP:0000639	Nystagmus
HP:0000651	Diplopia
HP:0000657	Oculomotor apraxia
HP:0000708	Atypical behavior
HP:0000712	Emotional lability
HP:0000718	Aggressive behavior
HP:0000729	Autistic behavior
HP:0000737	Irritability

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST000960_3	Cardiac hypertrophy	1.000000e-07
GCST004625_3	Monocyte count	1.000000e-10
GCST008362_89	Birth weight	3.000000e-11
GCST008758_24	Pre-treatment viral load in HIV-1 infection	1.000000e-17
GCST90002387_195	Immature fraction of reticulocytes	5.000000e-09
GCST90002389_85	Lymphocyte percentage of white cells	9.000000e-17
GCST90002392_161	Mean corpuscular volume	7.000000e-10
GCST90002393_125	Monocyte count	3.000000e-20
GCST90002396_128	Mean reticulocyte volume	2.000000e-15
GCST90002397_628	Mean spheric corpuscular volume	2.000000e-16
GCST90002398_478	Neutrophil count	8.000000e-15
GCST90002399_33	Neutrophil percentage of white cells	4.000000e-11
GCST90002403_43	Red blood cell count	2.000000e-09
GCST90002404_463	Red cell distribution width	5.000000e-44
GCST90002407_399	White blood cell count	3.000000e-11

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0002503	cardiac hypertrophy
EFO:0005091	monocyte count
EFO:0004344	birth weight
EFO:0010125	viral load
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0010701	mean reticulocyte volume
EFO:0004833	neutrophil count
EFO:0007990	neutrophil percentage of leukocytes
EFO:0004305	erythrocyte count
EFO:0009188	Red cell distribution width

MeSH disease descriptors (12)

Descriptor	Name	Tree numbers
D001506	Beckwith-Wiedemann Syndrome	C16.131.077.133; C16.131.260.080; C16.320.180.080; C16.320.447.375
D002524	Cerebellar Ataxia	C10.228.140.252.190; C10.597.350.090.500; C23.888.592.350.090.200
D004827	Epilepsy	C10.228.140.490
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
D008881	Migraine Disorders	C10.228.140.546.399.750
D020734	Parkinsonian Disorders	C10.228.140.079.862; C10.228.662.600
D013285	Strabismus	C10.292.562.887; C11.590.810
C563401	Choreoathetosis-Spasticity, Episodic (supp.)
C563840	Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (supp.)
C564288	Dystonia 18 (supp.)
C536830	Glut1 Deficiency Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2535 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

7 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 187,368 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL50588	EMETINE	4	22,457
CHEMBL51483	GOSSYPOL	3	13,973
CHEMBL123292	CYCLOHEXIMIDE	2	39,732
CHEMBL44	GENISTEIN	2	44,212
CHEMBL52606	COLFORSIN	2	40,599
CHEMBL150	KAEMPFEROL	1	25,940
CHEMBL49120	PD-0166285	1	455

PharmGKB: 0 entries

PharmGKB variants

3 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs4658	SLC2A1		0.00	0
rs841844	SLC2A1		0.00	0
rs3738514	SLC2A1		0.00	0

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — Class I transporters

Most potent curated ligand interactions (1 total), top 1:

Ligand	Action	Affinity	Parameter
compound 30 [PMID: 22468970]	Negative	5.7	pIC50

Binding affinities (BindingDB)

2 measured of 10 human assays (10 total across all organisms); most potent 2 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
2-(3-(4-((4-(1H-pyrazol-4-yl)phenyl)amino)-5,7-dihydrofuro[3,4-d]pyrimidin-2-yl)phenoxy)-N-(sec-butyl)acetamide	IC50	55 nM	US-10729691: Treatment of infectious diseases with glucose uptake inhibitors
2-(3-(4-((4-(1H-pyrazol-4-yl)phenyl)amino)-7,8-dihydro-5H-pyrano[4,3-d]pyrimidin-2-yl)phenoxy)-N-(sec-butyl)acetamide	IC50	55 nM	US-10729691: Treatment of infectious diseases with glucose uptake inhibitors

ChEMBL bioactivities

707 potent at pChembl≥5 of 830 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
9.52	IC50	0.3	nM	CHEMBL5661873
9.00	IC50	1	nM	CHEMBL3780239
9.00	IC50	1	nM	CHEMBL5661842
9.00	IC50	1	nM	CHEMBL5661848
9.00	IC50	1	nM	CHEMBL5661847
8.70	IC50	2	nM	BAY-876
8.70	IC50	2	nM	CHEMBL5661896
8.70	IC50	2	nM	CHEMBL5661910
8.52	IC50	3	nM	CHEMBL5661885
8.52	IC50	3	nM	CHEMBL5661843
8.52	IC50	3	nM	CHEMBL5661888
8.52	IC50	3	nM	CHEMBL5661838
8.52	IC50	3	nM	CHEMBL5661878
8.49	IC50	3.2	nM	BAY-876
8.40	IC50	4	nM	CHEMBL3781913
8.40	IC50	4	nM	CHEMBL5661865
8.40	IC50	4	nM	CHEMBL5661828
8.40	IC50	4	nM	CHEMBL5661934
8.31	IC50	4.9	nM	CHEMBL4092369
8.30	IC50	5	nM	CHEMBL3781331
8.30	IC50	5	nM	CHEMBL5661849
8.30	IC50	5	nM	CHEMBL5661921
8.30	IC50	5	nM	CHEMBL5661908
8.30	IC50	5	nM	CHEMBL5661852
8.22	IC50	6	nM	CHEMBL5661932
8.22	IC50	6	nM	CHEMBL5661901
8.15	IC50	7	nM	CHEMBL3781149
8.15	IC50	7	nM	CHEMBL3781548
8.15	IC50	7	nM	CHEMBL5661884
8.15	IC50	7	nM	CHEMBL5661930
8.15	IC50	7	nM	CHEMBL5661918
8.15	IC50	7	nM	CHEMBL5661940
8.15	IC50	7	nM	CHEMBL5661892
8.10	IC50	8	nM	CHEMBL3780460
8.10	IC50	8	nM	CHEMBL5661919
8.10	IC50	8	nM	CHEMBL5661915
8.05	IC50	9	nM	CHEMBL3780372
8.05	IC50	9	nM	CHEMBL5661850
8.00	IC50	10	nM	CHEMBL3780972
8.00	IC50	10	nM	CHEMBL3781347
8.00	IC50	10	nM	CHEMBL5661933
7.96	IC50	11	nM	CHEMBL5661907
7.92	IC50	12	nM	CHEMBL5661913
7.85	IC50	14	nM	CHEMBL3781308
7.85	IC50	14	nM	CHEMBL5661874
7.77	IC50	17	nM	CHEMBL3781151
7.77	IC50	17	nM	CHEMBL3781194
7.75	IC50	18	nM	CHEMBL5661939
7.72	IC50	19	nM	CHEMBL5661911
7.70	IC50	20	nM	CHEMBL3780144

PubChem BioAssay actives

206 with measured affinity, of 497 total; 50 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-N-[1-[(4-cyanophenyl)methyl]-5-methyl-3-(trifluoromethyl)pyrazol-4-yl]-6-methoxyquinoline-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0003	uM
4-N-[1-[(4-cyanophenyl)methyl]-3,5-dimethylpyrazol-4-yl]-7-fluoroquinoline-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0010	uM
4-N-[1-[(4-cyanophenyl)methyl]-5-methyl-3-(trifluoromethyl)pyrazol-4-yl]-5,7-difluoroquinoline-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0010	uM
4-N-[1-[(4-ethylphenyl)methyl]-5-methyl-3-(trifluoromethyl)pyrazol-4-yl]-7-fluoroquinoline-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0010	uM
4-[4-(5-fluoro-2-methoxyphenyl)piperazin-1-yl]-1-phenylpyrazolo[5,4-d]pyrimidine	1288118: Inhibition of human GLUT1 expressed in DLD1 cells assessed as ATP production co-incubated with 100 mM glucose for 16 hrs by CellTiter-Glo assay in presence of oxidative phosphorylation inhibitor rotenone	ic50	0.0010	uM
6-bromo-N-[1-[(5-cyano-2-pyridinyl)methyl]-3,5-dimethylpyrazol-4-yl]-2-(trifluoromethyl)quinoline-4-carboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0020	uM
4-N-[1-[(4-cyanophenyl)methyl]-5-methyl-3-(trifluoromethyl)pyrazol-4-yl]-6,7-difluoroquinoline-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0020	uM
4-N-[1-[(4-cyanophenyl)methyl]-5-methyl-3-(trifluoromethyl)pyrazol-4-yl]-7-fluoroquinoline-2,4-dicarboxamide	1559415: Inhibition of human GLUT1 expressed in DLD1 cells assessed as glucose uptake by measuring ATP incubated for 15 mins by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0020	uM
6-bromo-N-[1-[(4-cyano-3-fluorophenyl)methyl]-3,5-dimethylpyrazol-4-yl]-2-(trifluoromethyl)quinoline-4-carboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0030	uM
8-chloro-4-N-[1-[(4-cyanophenyl)methyl]-5-methyl-3-(trifluoromethyl)pyrazol-4-yl]quinoline-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0030	uM
4-N-[1-[(2-cyanophenyl)methyl]-5-methyl-3-(trifluoromethyl)pyrazol-4-yl]-7-fluoroquinoline-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0030	uM
4-N-[1-[(4-cyanophenyl)methyl]-5-methyl-3-(trifluoromethyl)pyrazol-4-yl]-5-fluoroquinoline-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0030	uM
4-N-[1-[(4-cyanophenyl)methyl]-3-methylpyrazol-4-yl]-7-fluoroquinoline-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0030	uM
6-bromo-N-[1-[(4-cyanophenyl)methyl]-3,5-dimethylpyrazol-4-yl]-2-(trifluoromethyl)quinoline-4-carboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0040	uM
4-N-[1-[(5-cyano-2-pyridinyl)methyl]-5-methyl-3-(trifluoromethyl)pyrazol-4-yl]-7-fluoroquinoline-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0040	uM
N-[1-[(4-cyanophenyl)methyl]-5-methyl-3-(trifluoromethyl)pyrazol-4-yl]-2-(1,3-thiazol-2-yl)quinoline-4-carboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0040	uM
4-[4-(2-methoxyphenyl)-1,4-diazepan-1-yl]-1-phenylpyrazolo[5,4-d]pyrimidine	1288118: Inhibition of human GLUT1 expressed in DLD1 cells assessed as ATP production co-incubated with 100 mM glucose for 16 hrs by CellTiter-Glo assay in presence of oxidative phosphorylation inhibitor rotenone	ic50	0.0040	uM
2,3-dimethoxy-5-methyl-6-[(2E,5E,7E,9R,10R,11E)-3,7,9,11-tetramethyl-10-[(2R,3R,4S,5S,6R)-3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxytrideca-2,5,7,11-tetraenyl]-1H-pyridin-4-one	1425906: Inhibition of GLUT1 in human A431 cells assessed as reduction in 2-[1,2-3H]deoxy-D-glucose uptake measured after 30 mins by liquid scintillation counting method	ic50	0.0049	uM
7-fluoro-4-N-[5-methyl-1-[[4-(trifluoromethoxy)phenyl]methyl]-3-(trifluoromethyl)pyrazol-4-yl]quinoline-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0050	uM
4-N-[1-[(4-cyanophenyl)methyl]-5-methyl-3-(trifluoromethyl)pyrazol-4-yl]-8-fluoroquinoline-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0050	uM
4-N-[1-[(4-cyanophenyl)methyl]-5-methyl-3-(trifluoromethyl)pyrazol-4-yl]-6-fluoroquinoline-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0050	uM
4-N-[1-[(5-cyanopyrazin-2-yl)methyl]-5-methyl-3-(trifluoromethyl)pyrazol-4-yl]-7-fluoroquinoline-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0050	uM
4-methoxy-3-[4-(1-phenylpyrazolo[5,4-d]pyrimidin-4-yl)piperazin-1-yl]benzamide	1288118: Inhibition of human GLUT1 expressed in DLD1 cells assessed as ATP production co-incubated with 100 mM glucose for 16 hrs by CellTiter-Glo assay in presence of oxidative phosphorylation inhibitor rotenone	ic50	0.0050	uM
6-bromo-N-[1-[(4-fluorophenyl)methyl]-3,5-dimethylpyrazol-4-yl]-2-(trifluoromethyl)quinoline-4-carboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0060	uM
4-N-[1-[(4-cyanophenyl)methyl]-5-methyl-3-(trifluoromethyl)pyrazol-4-yl]quinoline-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0060	uM
7-fluoro-4-N-[5-methyl-1-[(2-methylphenyl)methyl]-3-(trifluoromethyl)pyrazol-4-yl]quinoline-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0070	uM
4-N-[1-[(4-cyanophenyl)methyl]-5-methyl-3-(trifluoromethyl)pyrazol-4-yl]-6-methylquinoline-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0070	uM
4-N-[1-[(4-cyanophenyl)methyl]-5-methyl-3-propan-2-ylpyrazol-4-yl]-7-fluoroquinoline-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0070	uM
4-N-[1-[(4-cyanophenyl)methyl]-5-methylpyrazol-4-yl]-7-fluoroquinoline-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0070	uM
N-[1-[(4-cyanophenyl)methyl]-5-methyl-3-(trifluoromethyl)pyrazol-4-yl]-2-(2-methyl-1,2,4-triazol-3-yl)quinoline-4-carboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0070	uM
2-[4-(1-phenylpyrazolo[5,4-d]pyrimidin-4-yl)piperazin-1-yl]phenol	1288118: Inhibition of human GLUT1 expressed in DLD1 cells assessed as ATP production co-incubated with 100 mM glucose for 16 hrs by CellTiter-Glo assay in presence of oxidative phosphorylation inhibitor rotenone	ic50	0.0070	uM
1-(2-fluorophenyl)-4-[4-(2-methoxyphenyl)piperazin-1-yl]pyrazolo[5,4-d]pyrimidine	1288118: Inhibition of human GLUT1 expressed in DLD1 cells assessed as ATP production co-incubated with 100 mM glucose for 16 hrs by CellTiter-Glo assay in presence of oxidative phosphorylation inhibitor rotenone	ic50	0.0070	uM
6-bromo-N-[1-[(4-cyano-2-fluorophenyl)methyl]-3,5-dimethylpyrazol-4-yl]-2-(trifluoromethyl)quinoline-4-carboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0080	uM
1-(3,5-difluorophenyl)-4-[4-(2-methoxyphenyl)piperazin-1-yl]pyrazolo[5,4-d]pyrimidine	1288118: Inhibition of human GLUT1 expressed in DLD1 cells assessed as ATP production co-incubated with 100 mM glucose for 16 hrs by CellTiter-Glo assay in presence of oxidative phosphorylation inhibitor rotenone	ic50	0.0080	uM
4-N-[1-[(4-cyanophenyl)methyl]-5-methyl-3-(trifluoromethyl)pyrazol-4-yl]-7-methylquinoline-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0080	uM
7-fluoro-4-N-[5-methyl-3-(trifluoromethyl)-1-[[4-(trifluoromethyl)phenyl]methyl]pyrazol-4-yl]quinoline-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0090	uM
4-[4-(4-methoxy-3-pyridinyl)piperazin-1-yl]-1-phenylpyrazolo[5,4-d]pyrimidine	1288118: Inhibition of human GLUT1 expressed in DLD1 cells assessed as ATP production co-incubated with 100 mM glucose for 16 hrs by CellTiter-Glo assay in presence of oxidative phosphorylation inhibitor rotenone	ic50	0.0090	uM
4-N-[1-[(4-cyanophenyl)methyl]-5-methyl-3-(trifluoromethyl)pyrazol-4-yl]-1,7-naphthyridine-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0100	uM
4-[4-(2-methoxyphenyl)piperazin-1-yl]-1-(2-methylphenyl)pyrazolo[5,4-d]pyrimidine	1288118: Inhibition of human GLUT1 expressed in DLD1 cells assessed as ATP production co-incubated with 100 mM glucose for 16 hrs by CellTiter-Glo assay in presence of oxidative phosphorylation inhibitor rotenone	ic50	0.0100	uM
4-[4-(4-fluoro-2-methoxyphenyl)piperazin-1-yl]-1-phenylpyrazolo[5,4-d]pyrimidine	1288118: Inhibition of human GLUT1 expressed in DLD1 cells assessed as ATP production co-incubated with 100 mM glucose for 16 hrs by CellTiter-Glo assay in presence of oxidative phosphorylation inhibitor rotenone	ic50	0.0100	uM
7-fluoro-4-N-[5-methyl-1-[(3-methylphenyl)methyl]-3-(trifluoromethyl)pyrazol-4-yl]quinoline-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0110	uM
4-N-[1-[(5-cyanothiophen-2-yl)methyl]-5-methyl-3-(trifluoromethyl)pyrazol-4-yl]-7-fluoroquinoline-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0120	uM
4-[4-(2-methoxyphenyl)-3-methylpiperazin-1-yl]-1-phenylpyrazolo[5,4-d]pyrimidine	1288118: Inhibition of human GLUT1 expressed in DLD1 cells assessed as ATP production co-incubated with 100 mM glucose for 16 hrs by CellTiter-Glo assay in presence of oxidative phosphorylation inhibitor rotenone	ic50	0.0140	uM
4-N-[1-[(4-cyanophenyl)methyl]-5-methyl-3-(trifluoromethyl)pyrazol-4-yl]-1,6-naphthyridine-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0140	uM
4-[4-[4-(2-methoxyphenyl)piperazin-1-yl]pyrazolo[5,4-d]pyrimidin-1-yl]benzonitrile	1288118: Inhibition of human GLUT1 expressed in DLD1 cells assessed as ATP production co-incubated with 100 mM glucose for 16 hrs by CellTiter-Glo assay in presence of oxidative phosphorylation inhibitor rotenone	ic50	0.0170	uM
1-(4-fluorophenyl)-4-[4-(2-methoxyphenyl)piperazin-1-yl]pyrazolo[5,4-d]pyrimidine	1288118: Inhibition of human GLUT1 expressed in DLD1 cells assessed as ATP production co-incubated with 100 mM glucose for 16 hrs by CellTiter-Glo assay in presence of oxidative phosphorylation inhibitor rotenone	ic50	0.0170	uM
4-N-[1-[(4-cyanophenyl)methyl]-5-methyl-3-(trifluoromethyl)pyrazol-4-yl]-5-methylquinoline-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0180	uM
4-N-[1-[(4-cyanophenyl)methyl]-3-(trifluoromethyl)pyrazol-4-yl]-7-fluoroquinoline-2,4-dicarboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0190	uM
6-bromo-N-[1-[(4-fluorophenyl)methyl]-5-methyl-3-(trifluoromethyl)pyrazol-4-yl]-2-(trifluoromethyl)quinoline-4-carboxamide	2155042: Inhibition of human GLUT1 expressed in human DLD-1 cells assessed as reduction in glucose uptake by measuring decrease in ATP production incubated for 15 mins in presence of oxidative phosphorylation inhibitor rotenone by CellTiter-Glo Luminescent Cell Viability Assay	ic50	0.0200	uM
4-methoxy-3-[4-(1-phenylpyrazolo[5,4-d]pyrimidin-4-yl)piperazin-1-yl]benzonitrile	1288118: Inhibition of human GLUT1 expressed in DLD1 cells assessed as ATP production co-incubated with 100 mM glucose for 16 hrs by CellTiter-Glo assay in presence of oxidative phosphorylation inhibitor rotenone	ic50	0.0200	uM

CTD chemical–gene interactions

249 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Oxygen	increases expression, affects cotreatment, increases activity, affects expression, affects reaction (+5 more)	28
cobaltous chloride	decreases reaction, increases expression, decreases abundance, increases reaction	14
Glucose	decreases reaction, increases transport, increases activity, increases uptake, increases abundance (+4 more)	9
sodium arsenite	affects cotreatment, decreases expression, affects localization, decreases reaction, increases abundance (+1 more)	8
bisphenol A	affects expression, affects localization, increases activity, increases uptake, increases expression	6
Valproic Acid	increases transport, decreases expression, decreases reaction, increases expression	6
Cadmium Chloride	decreases reaction, increases abundance, increases expression, decreases expression, increases reaction (+1 more)	6
3-methyladenine	decreases reaction, increases abundance, increases expression, decreases expression, increases reaction	5
Tetrachlorodibenzodioxin	affects cotreatment, increases expression, decreases expression, decreases reaction, affects expression	5
Arsenic Trioxide	increases expression, affects cotreatment, decreases reaction, increases import, affects localization (+3 more)	4
Acetylcysteine	decreases reaction, increases expression, decreases expression	4
Benzo(a)pyrene	decreases expression, increases expression, affects expression, affects methylation	4
Cadmium	decreases reaction, increases abundance, increases expression, increases reaction, affects reaction	4
Copper	affects binding, increases expression, affects cotreatment, decreases expression	4
Deferoxamine	decreases reaction, increases expression, decreases abundance	4
Quercetin	decreases expression, affects localization, affects transport, decreases reaction, increases uptake (+1 more)	4
kaempferol	affects transport, decreases reaction, increases uptake, decreases activity, decreases expression	3
4,6-dimorpholino-N-(4-nitrophenyl)-1,3,5-triazin-2-amine	decreases expression, decreases reaction, increases expression, increases phosphorylation	3
Troglitazone	decreases expression, increases expression	3
Cisplatin	decreases reaction, affects cotreatment, increases expression, increases reaction, decreases expression	3
Cytochalasin B	decreases reaction, increases transport, affects folding, affects binding, decreases activity	3
Doxorubicin	decreases expression, increases expression	3
Estradiol	decreases expression, increases expression, affects reaction, affects cotreatment	3
Rotenone	decreases reaction, increases expression, decreases expression, increases activity, decreases response to substance	3
methylmercuric chloride	decreases expression	2
lead acetate	affects cotreatment, decreases expression, increases abundance, affects reaction	2
arsenite	increases expression, decreases expression, increases abundance, affects reaction	2
mono-(2-ethylhexyl)phthalate	decreases expression	2
tris(1,3-dichloro-2-propyl)phosphate	increases expression, decreases expression, increases abundance	2
monomethylarsonic acid	decreases expression, increases import	2

ChEMBL screening assays

158 unique, capped per target: 130 binding, 24 admet, 4 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL2061373	Binding	Inhibition of GLUT1 mediated [3H]-2-DG uptake in human LNCAP cells at 5 uM after 30 mins by scintillation counting	Development of a novel class of glucose transporter inhibitors. — J Med Chem
CHEMBL3436041	Functional	ST_JUDE_LEISH: Cytotoxicity against transgenic Leishmania Mexicana promastigotes LmGLUT1 that are glucose transport deficient and complemented with the human glucose transporter GLUT1. Activity is measured by DNA content using SYBR green in	St. Jude Leishmania screening dataset.
CHEMBL4026247	ADMET	Substrate activity at GLUT1 in human A549 cells assessed cellular uptake at 20 uM after 8 hrs by HPLC analysis relative to control	Design of antitumor agents containing carbohydrate based on GLUT1, and evaluation of antiproliferative activity. — Bioorg Med Chem Lett

Cellosaurus cell lines

29 cell lines: 14 cancer cell line, 8 transformed cell line, 6 induced pluripotent stem cell, 1 finite cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B0ZR	Abcam Hep-G2 SLC2A1 KO	Cancer cell line	Male
CVCL_B2Q5	Abcam A-549 SLC2A1 KO	Cancer cell line	Male
CVCL_D4L2	HCT116-SLC2A1-KO-c3	Cancer cell line	Male
CVCL_D4L3	HCT116-SLC2A1-KO-c4	Cancer cell line	Male
CVCL_D6WH	GM29054	Induced pluripotent stem cell	Female
CVCL_D8AF	Ubigene A-549 SLC2A1 KO	Cancer cell line	Male
CVCL_D8VA	Ubigene HCT 116 SLC2A1 KO	Cancer cell line	Male
CVCL_D9RX	Ubigene HEK293 SLC2A1 KO	Transformed cell line	Female
CVCL_E0NS	Ubigene HeLa SLC2A1 KO	Cancer cell line	Female
CVCL_F0KR	AtT-20ins hGLUT-1 1-2	Cancer cell line	Sex unspecified

Clinical trials (associated diseases)

267 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT01662414	PHASE4	COMPLETED	Effect of Undenatured Cysteine-Rich Whey Protein Isolate (HMS 90®) in Patients With Parkinson’s Disease
NCT04871464	PHASE4	UNKNOWN	Role and Mechanism of Probiotics in Improving Motor Symptoms in Mild to Moderate Parkinson’s Disease
NCT02960217	PHASE3	TERMINATED	Crossover Study to Assess the Efficacy and Safety of UX007 in the Treatment of Movement Disorders Associated With Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)
NCT00088452	PHASE3	COMPLETED	Childhood Absence Epilepsy Rx PK-PD-Pharmacogenetics Study
NCT04666610	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Efficacy, Safety, and Tolerability of Brivaracetam as Monotherapy in Patients 2 to 25 Years of Age With Childhood Absence Epilepsy or Juvenile Absence Epilepsy
NCT05109234	PHASE3	COMPLETED	A Study to Test the Long-term Safety, Tolerability and Efficacy of Brivaracetam in Study Participants 2 to 26 Years of Age With Childhood Absence Epilepsy or Juvenile Absence Epilepsy
NCT06315322	PHASE3	RECRUITING	A Study to Test the Long-term Safety and Tolerability of Brivaracetam in Study Participants With Childhood Absence Epilepsy or Juvenile Absence Epilepsy
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT01993186	PHASE2	COMPLETED	Phase 2 Study of Triheptanoin (UX007) for the Treatment of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)
NCT02000960	PHASE2	UNKNOWN	Pilot Study of Triheptanoin in Patients With Glucose Transporter 1 Deficiency Syndrome
NCT02014883	PHASE2	COMPLETED	Phase II Open Label Study Using Triheptanoin in Patients With Glucose Type 1 Transporter Deficiency GLUT1-DS
NCT02599961	PHASE2	TERMINATED	Study to Assess the Long Term Safety and Efficacy of UX007 in Participants With Glucose Type 1 Deficiency Syndrome (Glut1 DS)
NCT03181399	PHASE2	COMPLETED	Diet Treatment Glucose Transporter Type 1 Deficiency (G1D)
NCT03301532	PHASE2	COMPLETED	Compatibility of C7 With Ketogenic Diet in Patients Diagnosed With G1D
NCT07432490	PHASE2	RECRUITING	A Phase II Study With Exploratory Outcomes of Fucose Supplementation in GLUT1 Deficiency Syndrome
NCT03336242	PHASE2	TERMINATED	Cannabidiol Oral Solution in Pediatric Participants With Treatment-Resistant Childhood Absence Seizures
NCT03355300	PHASE2	TERMINATED	Long-Term Safety of Pharmaceutical Grade Synthetic Cannabidiol Oral Solution in Pediatric Participants With Treatment-Resistant Childhood Absence Seizures
NCT06153186	PHASE2	TERMINATED	Flunarizine for Treatment Resistant Absence Epilepsy
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT00686699	PHASE2	TERMINATED	Study of Preladenant for the Treatment of Antipsychotic Induced Movement Disorders in Participants With Schizophrenia (Study P04628)
NCT01385592	PHASE2	COMPLETED	Evaluation of the Efficacy and Safety of AFQ056 in Parkinson’s Patients With L-dopa Induced Dyskinesias
NCT01491529	PHASE2	COMPLETED	Evaluation of the Efficacy and Safety of Modified Release AFQ056 in Parkinson’s Patients With L-dopa Induced Dyskinesias
NCT01491932	PHASE2	COMPLETED	Open-label, Long-term Safety Extension Study of AFQ056 in Parkinson’s Patients With L-dopa Induced Dyskinesias
NCT04727658	PHASE2	TERMINATED	Linac FRACtionated Radiosurgical THALamotomie in Tremors (FRACTHAL)
NCT02018315	PHASE1	COMPLETED	Treatment Development for Glucose Transporter Type I Deficiency Syndrome (G1D)
NCT03041363	PHASE1	COMPLETED	Treatment Development of Triheptanoin (G1D)
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03065192	PHASE1	COMPLETED	Safety and Efficacy Study of VY-AADC01 for Advanced Parkinson’s Disease
NCT03428009	Not specified	RECRUITING	Dystonia Genotype-Phenotype Correlation