SLC50A1

Summary

SLC50A1 (solute carrier family 50 member 1, HGNC:30657) is a protein-coding gene on chromosome 1q22, encoding Sugar transporter SWEET1 (Q9BRV3). Mediates sugar transport across membranes.

Enables glucoside transmembrane transporter activity. Predicted to be involved in carbohydrate transport. Located in Golgi apparatus and plasma membrane.

Source: NCBI Gene 55974 — RefSeq curated summary.

At a glance

• GWAS associations: 26
• Clinical variants (ClinVar): 28 total
• MANE Select transcript: NM_018845

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30657
Approved symbol	SLC50A1
Name	solute carrier family 50 member 1
Location	1q22
Locus type	gene with protein product
Status	Approved
Aliases	SCP, RP11-540D14.5, slv, RZPDo834D038D, HsSWEET1, SWEET1
Ensembl gene	ENSG00000169241
Ensembl biotype	protein_coding
OMIM	613683
Entrez	55974

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 8 protein_coding, 5 nonsense_mediated_decay, 4 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000303343, ENST00000368401, ENST00000368404, ENST00000368405, ENST00000465546, ENST00000475824, ENST00000479579, ENST00000484027, ENST00000484157, ENST00000488609, ENST00000490276, ENST00000490770, ENST00000506037, ENST00000622581, ENST00000650403, ENST00000864376, ENST00000864377, ENST00000957827

RefSeq mRNA: 10 — MANE Select: NM_018845 NM_001122837, NM_001122839, NM_001287586, NM_001287587, NM_001287588, NM_001287589, NM_001287590, NM_001287591, NM_001287592, NM_018845

CCDS: CCDS1093, CCDS44238, CCDS44239, CCDS72929, CCDS72930

Canonical transcript exons

ENST00000368404 — 6 exons

Exon	Start	End
ENSE00001598740	155138180	155138853
ENSE00003526474	155136828	155136951
ENSE00003541115	155137979	155138098
ENSE00003608176	155137561	155137722
ENSE00003623649	155136299	155136376
ENSE00003845089	155135852	155135991

Expression profiles

Bgee: expression breadth ubiquitous, 282 present calls, max score 96.92.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.6322 / max 213.6966, expressed in 1821 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
5575	36.4925	1815
5579	2.9731	1016
5574	1.2085	789
5577	1.0666	701
201747	0.4708	236
5576	0.4207	197

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	96.92	gold quality
rectum	UBERON:0001052	96.09	gold quality
body of pancreas	UBERON:0001150	95.67	gold quality
right adrenal gland	UBERON:0001233	94.62	gold quality
islet of Langerhans	UBERON:0000006	94.55	gold quality
pancreas	UBERON:0001264	94.54	gold quality
right adrenal gland cortex	UBERON:0035827	94.47	gold quality
left adrenal gland	UBERON:0001234	94.24	gold quality
right lobe of liver	UBERON:0001114	94.22	gold quality
type B pancreatic cell	CL:0000169	93.87	gold quality
left adrenal gland cortex	UBERON:0035825	93.86	gold quality
transverse colon	UBERON:0001157	93.51	gold quality
adrenal gland	UBERON:0002369	93.48	gold quality
granulocyte	CL:0000094	93.42	gold quality
adrenal cortex	UBERON:0001235	93.41	gold quality
small intestine Peyer’s patch	UBERON:0003454	93.07	gold quality
body of stomach	UBERON:0001161	93.05	gold quality
spleen	UBERON:0002106	92.95	gold quality
adrenal tissue	UBERON:0018303	92.92	gold quality
tendon of biceps brachii	UBERON:0008188	92.81	silver quality
bone marrow cell	CL:0002092	92.69	gold quality
lower esophagus mucosa	UBERON:0035834	92.55	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	92.52	gold quality
metanephros cortex	UBERON:0010533	92.42	gold quality
small intestine	UBERON:0002108	92.35	gold quality
olfactory bulb	UBERON:0002264	92.35	silver quality
nasal cavity epithelium	UBERON:0005384	92.23	gold quality
esophagus mucosa	UBERON:0002469	92.11	gold quality
monocyte	CL:0000576	92.04	gold quality
skin of abdomen	UBERON:0001416	91.77	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	13.69

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

25 targeting SLC50A1, 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-9-5P	100.00	72.28	2361
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-548AH-5P	99.52	69.73	2626
HSA-MIR-520F-5P	99.34	70.40	1632
HSA-MIR-133A-3P	99.27	71.53	1270
HSA-MIR-133B	99.27	71.53	1270
HSA-MIR-4477B	99.23	70.49	1733
HSA-MIR-3675-3P	99.09	67.70	968
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-6506-5P	99.04	65.66	1386
HSA-MIR-619-5P	98.57	64.97	1988
HSA-MIR-9903	98.47	66.70	748
HSA-MIR-6742-3P	97.95	64.50	1490
HSA-MIR-216B-5P	97.16	66.76	1126
HSA-MIR-874-5P	96.93	63.92	1014
HSA-MIR-1298-3P	94.05	64.84	620

Cross-species orthologs

12 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc50a1	ENSDARG00000015158
mus_musculus	Slc50a1	ENSMUSG00000027953
rattus_norvegicus	Slc50a1	ENSRNOG00000020554
rattus_norvegicus	Slc50a1-ps1	ENSRNOG00000068711
drosophila_melanogaster	slv	FBGN0025469
drosophila_melanogaster	CG7272	FBGN0036501
caenorhabditis_elegans		WBGENE00007384
caenorhabditis_elegans		WBGENE00011190
caenorhabditis_elegans		WBGENE00012647
caenorhabditis_elegans		WBGENE00016922
caenorhabditis_elegans		WBGENE00019300
caenorhabditis_elegans		WBGENE00019645

Protein

Protein identifiers

Sugar transporter SWEET1 — Q9BRV3 (reviewed: Q9BRV3)

Alternative names: RAG1-activating protein 1, Solute carrier family 50 member 1, Stromal cell protein

All UniProt accessions (7): Q9BRV3, A0A087WXX5, A0A3B3IS38, A0A3B3ISS5, A0A3B3IT24, A0A3B3ITH1, Q5SR67

UniProt curated annotations — full annotation on UniProt →

Function. Mediates sugar transport across membranes. May stimulate V(D)J recombination by the activation of RAG1.

Subunit / interactions. Interacts with TRPV2; the interaction probably occurs intracellularly and depends on TRPV2 N-glycosylation.

Subcellular location. Golgi apparatus membrane. Cell membrane.

Tissue specificity. Ubiquitously expressed with highest expression in oviduct, epididymis and intestine.

Similarity. Belongs to the SWEET sugar transporter family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9BRV3-1	1	yes
Q9BRV3-2	2
Q9BRV3-3	3

RefSeq proteins (10): NP_001116309, NP_001116311, NP_001274515, NP_001274516, NP_001274517, NP_001274518, NP_001274519, NP_001274520, NP_001274521, NP_061333* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004316	SWEET_rpt	Repeat
IPR047664	SWEET	Family

Pfam: PF03083

UniProt features (16 total): transmembrane region 7, splice variant 3, sequence conflict 2, domain 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BRV3-F1	89.97	0.76

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-189200	Cellular hexose transport
R-HSA-382551	Transport of small molecules
R-HSA-425407	SLC-mediated transmembrane transport

MSigDB gene sets: 140 (showing top): RNGTGGGC_UNKNOWN, GOBP_CARBOHYDRATE_TRANSPORT, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, NFKB_Q6, chr1q22, TATA_C, HU_GENOTOXIN_ACTION_DIRECT_VS_INDIRECT_24HR, IK3_01, ACEVEDO_LIVER_CANCER_UP, GOBP_CARBOHYDRATE_DERIVATIVE_TRANSPORT, GOBP_TRANSMEMBRANE_TRANSPORT, DR3_Q4, GOMF_SUGAR_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, WANG_TUMOR_INVASIVENESS_DN, MMEF2_Q6

GO Biological Process (4): carbohydrate transport (GO:0008643), hexose transmembrane transport (GO:0008645), carbohydrate transmembrane transport (GO:0034219), glucoside transport (GO:0042946)

GO Molecular Function (3): glucoside transmembrane transporter activity (GO:0042947), sugar transmembrane transporter activity (GO:0051119), protein binding (GO:0005515)

GO Cellular Component (5): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), endomembrane system (GO:0012505), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
SLC-mediated transmembrane transport	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
transport	1
monosaccharide transmembrane transport	1
carbohydrate transport	1
transmembrane transport	1
glycoside transport	1
glucoside transport	1
carbohydrate derivative transmembrane transporter activity	1
carbohydrate transmembrane transporter activity	1
binding	1
Golgi apparatus	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
vacuole	1
plasma membrane	1

Protein interactions and networks

STRING

874 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC50A1	SHC2	P98077	698
SLC50A1	RAG1	P15918	684
SLC50A1	RPS5	P46782	491
SLC50A1	SLC2A6	Q9UGQ3	453
SLC50A1	RPS25	P25111	451
SLC50A1	SLC2A13	Q96QE2	449
SLC50A1	SLC2A12	Q8TD20	448
SLC50A1	ENTREP3	P81408	410
SLC50A1	ZMYND11	Q15326	405
SLC50A1	SLC2A8	Q9NY64	393
SLC50A1	RNF214	Q8ND24	389
SLC50A1	KRTCAP2	Q8N6L1	382
SLC50A1	SLC5A9	Q2M3M2	373
SLC50A1	SLC5A10	A0PJK1	373
SLC50A1	SERPINE3	A8MV23	367

IntAct

13 interactions, top by confidence:

A	B	Type	Score
SDCBP	SLC50A1	psi-mi:“MI:0915”(physical association)	0.560
MTERF3	SLC50A1	psi-mi:“MI:0915”(physical association)	0.560
SLC50A1	SMG9	psi-mi:“MI:0915”(physical association)	0.560
PKM	SLC50A1	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
SLC50A1	CREB3	psi-mi:“MI:0915”(physical association)	0.370
SLC50A1	CDC25C	psi-mi:“MI:0914”(association)	0.350
SDCBP	SLC50A1	psi-mi:“MI:0915”(physical association)	0.000
MTERF3	SLC50A1	psi-mi:“MI:0915”(physical association)	0.000
SMG9	SLC50A1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (9): SLC50A1 (Two-hybrid), SLC50A1 (Two-hybrid), SLC50A1 (Two-hybrid), SLC50A1 (Two-hybrid), CDC25C (Affinity Capture-MS), SRSF1 (Affinity Capture-MS), SLC50A1 (Affinity Capture-RNA), SLC50A1 (Affinity Capture-RNA), SLC50A1 (Affinity Capture-RNA)

ESM2 similar proteins: A1L272, A4FV75, A5A6S6, A6QL92, B0BMY1, B8AF63, F1NXU8, O54902, O80605, P49281, P49282, P57057, P57758, Q17QZ3, Q28HR4, Q3TIT8, Q5EAL3, Q5F383, Q5F3N0, Q5R6J3, Q5R839, Q5RD30, Q5ZJX0, Q640L2, Q6DHU1, Q6DIV6, Q6IR74, Q6J4K2, Q6NTJ7, Q6P499, Q6PF45, Q6YK44, Q6ZP29, Q8BGN5, Q8BJA2, Q8BXA5, Q8C4N4, Q8IVJ1, Q8NA29, Q8NCC5

Diamond homologs: A2WR31, A2WSD3, A2WSD8, A2X3S3, A2X5B4, A2XGM7, A2YZ24, A2ZIM4, A3BWJ9, B8A833, B8AYH1, B8BKP4, B9G2E6, D3ZH22, O82587, P0DKJ3, P0DKJ4, P0DKJ5, P93332, Q0J349, Q10LI8, Q10LN5, Q19VE6, Q2QR07, Q2QWX8, Q2R3P9, Q5EB14, Q5JJY5, Q5N8J1, Q5NAZ9, Q60EC2, Q6K4V2, Q6K602, Q6L568, Q6NQN5, Q6YZF3, Q7JVE7, Q84WN3, Q8L9J7, Q8LBF7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	14
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1091 predictions. Top by Δscore:

Variant	Effect	Δscore
1:155135992:G:GG	donor_gain	1.0000
1:155136369:G:GT	donor_gain	1.0000
1:155136372:GTCAA:G	donor_gain	1.0000
1:155136377:G:GG	donor_gain	1.0000
1:155138175:TTCA:T	acceptor_loss	1.0000
1:155138176:TCA:T	acceptor_loss	1.0000
1:155138178:A:AG	acceptor_gain	1.0000
1:155138178:A:T	acceptor_loss	1.0000
1:155138179:G:A	acceptor_loss	1.0000
1:155138179:G:GA	acceptor_gain	1.0000
1:155138179:GGT:G	acceptor_gain	1.0000
1:155135949:GAGCA:G	donor_gain	0.9900
1:155135959:G:GA	donor_gain	0.9900
1:155135987:GGCCT:G	donor_gain	0.9900
1:155135988:GCCT:G	donor_gain	0.9900
1:155135988:GCCTG:G	donor_gain	0.9900
1:155135995:A:T	donor_gain	0.9900
1:155135996:GA:G	donor_gain	0.9900
1:155135998:G:GG	donor_gain	0.9900
1:155136369:G:T	donor_gain	0.9900
1:155136405:A:T	donor_gain	0.9900
1:155137559:AGCGT:A	acceptor_gain	0.9900
1:155137560:GC:G	acceptor_gain	0.9900
1:155137560:GCGT:G	acceptor_gain	0.9900
1:155137560:GCGTG:G	acceptor_gain	0.9900
1:155137721:TGGTG:T	donor_loss	0.9900
1:155137724:TGAGT:T	donor_loss	0.9900
1:155137725:G:GG	donor_loss	0.9900
1:155138178:AG:A	acceptor_gain	0.9900
1:155138179:GG:G	acceptor_gain	0.9900

AlphaMissense

1416 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:155137678:A:C	S134R	0.991
1:155137680:T:A	S134R	0.991
1:155137680:T:G	S134R	0.991
1:155138207:A:C	S198R	0.991
1:155138209:C:A	S198R	0.991
1:155138209:C:G	S198R	0.991
1:155136357:T:C	F47L	0.988
1:155136359:T:A	F47L	0.988
1:155136359:T:G	F47L	0.988
1:155137693:A:C	S139R	0.986
1:155137695:C:A	S139R	0.986
1:155137695:C:G	S139R	0.986
1:155136888:C:A	N73K	0.985
1:155136888:C:G	N73K	0.985
1:155138070:G:A	G179E	0.985
1:155135978:T:C	F23L	0.981
1:155135980:C:A	F23L	0.981
1:155135980:C:G	F23L	0.981
1:155138057:T:A	W175R	0.980
1:155138057:T:C	W175R	0.980
1:155136348:T:C	F44L	0.979
1:155136350:C:A	F44L	0.979
1:155136350:C:G	F44L	0.979
1:155138069:G:T	G179W	0.978
1:155136838:T:A	W57R	0.977
1:155136838:T:C	W57R	0.977
1:155138188:C:A	N191K	0.977
1:155138188:C:G	N191K	0.977
1:155137677:C:G	C133W	0.975
1:155136850:G:T	G61W	0.972

dbSNP variants (sampled 300 via entrez): RS1000730338 (1:155134216 G>A), RS1002288135 (1:155137830 A>G), RS1003065339 (1:155135306 A>G), RS1004242313 (1:155135106 C>T), RS1005207619 (1:155134806 T>G), RS1005479985 (1:155136779 C>G), RS1006453340 (1:155138271 T>C), RS1006533150 (1:155137886 G>A,T), RS1006772356 (1:155138553 G>A), RS1007889301 (1:155136356 C>G), RS1008927809 (1:155139201 C>T), RS1009893099 (1:155133425 G>C), RS1010877999 (1:155137416 G>A), RS1010939239 (1:155136182 G>A,C,T), RS1011225470 (1:155135581 G>A)

Disease associations

OMIM: gene MIM:613683 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

26 associations (top):

Study	Trait	p-value
GCST001942_19	Prostate cancer	2.000000e-08
GCST004131_70	Inflammatory bowel disease	6.000000e-08
GCST004132_44	Crohn’s disease	2.000000e-07
GCST007294_124	Body fat distribution (trunk fat ratio)	8.000000e-35
GCST007294_3	Body fat distribution (trunk fat ratio)	6.000000e-21
GCST007294_50	Body fat distribution (trunk fat ratio)	1.000000e-15
GCST007295_17	Body fat distribution (leg fat ratio)	3.000000e-13
GCST007295_37	Body fat distribution (leg fat ratio)	7.000000e-17
GCST007295_72	Body fat distribution (leg fat ratio)	1.000000e-28
GCST010002_367	Refractive error	5.000000e-13
GCST010696_19	Cortical thickness (min-P)	2.000000e-10
GCST010697_10	Cortical surface area (min-P)	3.000000e-10
GCST010698_59	Subcortical volume (min-P)	9.000000e-10
GCST010699_20	Brain morphology (min-P)	7.000000e-10
GCST010700_5	Cortical thickness (MOSTest)	8.000000e-17
GCST010701_66	Cortical surface area (MOSTest)	1.000000e-09
GCST010702_43	Subcortical volume (MOSTest)	3.000000e-10
GCST010703_253	Brain morphology (MOSTest)	4.000000e-14
GCST010796_1642	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08
GCST010796_1643	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-09
GCST010796_1644	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-10
GCST010796_1645	Electrocardiogram morphology (amplitude at temporal datapoints)	6.000000e-12
GCST010796_1646	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-12
GCST010796_1647	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-12
GCST010796_1648	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-13
GCST010796_1649	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-13

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004341	body fat distribution
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness
EFO:0004327	electrocardiography

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

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

Target class: transporter — SLC50 sugar transporter

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation, increases expression	2
sodium arsenite	affects cotreatment, increases abundance, increases expression	2
Cisplatin	increases expression, affects cotreatment	2
Tunicamycin	increases expression	2
Cyclosporine	increases expression	2
triphenyl phosphate	affects expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
ochratoxin A	increases acetylation, increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
ciglitazone	increases expression, affects binding	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
perfluoro-n-nonanoic acid	increases expression	1
ICG 001	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases reaction, increases expression	1
jinfukang	increases expression, affects cotreatment	1
Arsenic Trioxide	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Atrazine	increases expression	1
Vehicle Emissions	increases expression, decreases reaction	1
Cadmium	increases abundance, increases expression	1
Catechin	affects cotreatment, increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Doxorubicin	decreases expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Smoke	decreases expression	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2GB	Abcam HeLa SLC50A1 KO	Cancer cell line	Female
CVCL_D4PW	HCT116-SLC50A1-KO-c4	Cancer cell line	Male
CVCL_D4PX	HCT116-SLC50A1-KO-c8	Cancer cell line	Male
CVCL_TN95	HAP1 SLC50A1 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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