GLG1
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Also known as MG-160ESL-1CFR-1
Summary
GLG1 (golgi glycoprotein 1, HGNC:4316) is a protein-coding gene on chromosome 16q23.1, encoding Golgi apparatus protein 1 (Q92896). Binds fibroblast growth factor and E-selectin (cell-adhesion lectin on endothelial cells mediating the binding of neutrophils).
Predicted to enable fibroblast growth factor binding activity. Predicted to act upstream of or within several processes, including negative regulation of protein processing; negative regulation of transforming growth factor beta receptor signaling pathway; and regulation of chondrocyte differentiation. Located in Golgi apparatus.
Source: NCBI Gene 2734 — RefSeq curated summary.
At a glance
- GWAS associations: 13
- Clinical variants (ClinVar): 179 total
- Druggable target: yes
- MANE Select transcript:
NM_001145667
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4316 |
| Approved symbol | GLG1 |
| Name | golgi glycoprotein 1 |
| Location | 16q23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MG-160, ESL-1, CFR-1 |
| Ensembl gene | ENSG00000090863 |
| Ensembl biotype | protein_coding |
| OMIM | 600753 |
| Entrez | 2734 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 12 protein_coding, 6 retained_intron, 2 nonsense_mediated_decay
ENST00000205061, ENST00000422840, ENST00000447066, ENST00000561481, ENST00000561942, ENST00000562090, ENST00000563432, ENST00000563646, ENST00000565260, ENST00000565474, ENST00000566601, ENST00000567911, ENST00000567951, ENST00000627032, ENST00000881337, ENST00000881338, ENST00000881339, ENST00000881340, ENST00000881341, ENST00000941220
RefSeq mRNA: 3 — MANE Select: NM_001145667
NM_001145666, NM_001145667, NM_012201
CCDS: CCDS32485, CCDS45526, CCDS45527
Canonical transcript exons
ENST00000422840 — 26 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000694324 | 74494760 | 74494831 |
| ENSE00000694327 | 74492957 | 74493140 |
| ENSE00000694330 | 74491001 | 74491215 |
| ENSE00000694332 | 74485796 | 74485917 |
| ENSE00000694334 | 74483023 | 74483124 |
| ENSE00000694336 | 74480241 | 74480394 |
| ENSE00001289424 | 74496441 | 74496644 |
| ENSE00001663920 | 74447440 | 74453334 |
| ENSE00002610428 | 74606657 | 74607114 |
| ENSE00003499434 | 74457874 | 74457994 |
| ENSE00003500723 | 74472349 | 74472411 |
| ENSE00003510120 | 74459682 | 74459789 |
| ENSE00003520136 | 74465676 | 74465813 |
| ENSE00003525368 | 74474546 | 74474632 |
| ENSE00003552175 | 74462094 | 74462195 |
| ENSE00003570373 | 74467756 | 74467848 |
| ENSE00003596720 | 74532121 | 74532153 |
| ENSE00003599228 | 74503531 | 74503746 |
| ENSE00003599499 | 74477396 | 74477533 |
| ENSE00003613712 | 74463356 | 74463479 |
| ENSE00003629366 | 74468946 | 74469063 |
| ENSE00003635857 | 74456649 | 74456755 |
| ENSE00003647428 | 74469985 | 74470073 |
| ENSE00003660806 | 74508839 | 74508925 |
| ENSE00003676037 | 74462488 | 74462630 |
| ENSE00003683487 | 74471173 | 74471286 |
Expression profiles
Bgee: expression breadth ubiquitous, 299 present calls, max score 98.01.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 94.7028 / max 815.9767, expressed in 1827 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 158115 | 94.7028 | 1827 |
Top tissues by expression
301 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 98.01 | gold quality |
| renal medulla | UBERON:0000362 | 97.99 | gold quality |
| nipple | UBERON:0002030 | 97.82 | gold quality |
| tibia | UBERON:0000979 | 97.75 | gold quality |
| pylorus | UBERON:0001166 | 97.73 | gold quality |
| cardia of stomach | UBERON:0001162 | 97.69 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 97.39 | gold quality |
| corpus callosum | UBERON:0002336 | 97.31 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 97.14 | gold quality |
| ventral tegmental area | UBERON:0002691 | 97.14 | gold quality |
| olfactory bulb | UBERON:0002264 | 97.09 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 97.09 | gold quality |
| urethra | UBERON:0000057 | 97.07 | gold quality |
| colonic epithelium | UBERON:0000397 | 97.00 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.98 | gold quality |
| cartilage tissue | UBERON:0002418 | 96.91 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 96.85 | gold quality |
| entorhinal cortex | UBERON:0002728 | 96.80 | gold quality |
| inferior olivary complex | UBERON:0002127 | 96.76 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 96.75 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 96.73 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 96.63 | gold quality |
| cranial nerve II | UBERON:0000941 | 96.52 | gold quality |
| postcentral gyrus | UBERON:0002581 | 96.48 | gold quality |
| caput epididymis | UBERON:0004358 | 96.44 | gold quality |
| islet of Langerhans | UBERON:0000006 | 96.40 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 96.37 | gold quality |
| parietal lobe | UBERON:0001872 | 96.36 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 96.35 | gold quality |
| adrenal tissue | UBERON:0018303 | 96.25 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 14.84 |
| E-CURD-55 | no | 342.58 |
| E-CURD-88 | no | 167.27 |
| E-GEOD-137537 | no | 3.29 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
127 targeting GLG1, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-4493 | 99.90 | 66.48 | 977 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
Literature-anchored findings (GeneRIF, showing 9)
- evaluated in human brain tumors exhibiting varying degrees of malignancy (PMID:12684670)
- a novel variant of the GLG1 gene product called GLG2 is reported; genetic analysis suggests GLG1 & GLG2 are the products of a single gene, the mRNA of which can be processed by alternative splicing to generate different transcripts encoding GLG1 or GLG2 (PMID:15797922)
- under hypoxia, ESL-1 is shed from activated hepatic stellate cells (PMID:19148508)
- C2GnT1 gene expression and the resulting C2-O-sLe(X) carbohydrates produced mediate the adhesive and invasive behaviors of human carcinomas which may influence their metastatic potential. (PMID:21283832)
- expression of Cfr in the Golgi apparatus and on the plasma membrane is finely tuned through two distinct mechanisms for exhibiting different functions. (PMID:21777203)
- Studies indicate that PSGL-1, CD44, and ESL-1 on mature leukocytes are physiologic glycoprotein ligands for endothelial P-selectin and E-selectin. (PMID:22021370)
- circulating prostate cancer cells’ rolling capacity contributes to metastasis, and that is in part controlled by ESL-1. (PMID:25301730)
- Our results highlight the fact that interaction between APN and ESL-1 could provide a fundamental mechanism underlying the anti-atherogenic properties of APN. (PMID:26792720)
- Study identifies NRP2 and ESL-1 as targets for polysialylation in murine microglia and human THP-1 macrophages and reveals a striking convergence in the regulation of the two polysialylated acceptors in the course of inflammatory activation. A pool of polysialylated NRP2 and ESL-1 is assembled after injury or in culture and its shedding is an early response to lipopolysaccharide-induced activation of microglia. (PMID:27159043)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | glg1a | ENSDARG00000061282 |
| danio_rerio | glg1b | ENSDARG00000101210 |
| mus_musculus | Glg1 | ENSMUSG00000003316 |
| rattus_norvegicus | Glg1 | ENSRNOG00000018668 |
| drosophila_melanogaster | Glg1 | FBGN0264561 |
| caenorhabditis_elegans | WBGENE00008800 |
Protein
Protein identifiers
Golgi apparatus protein 1 — Q92896 (reviewed: Q92896)
Alternative names: CFR-1, Cysteine-rich fibroblast growth factor receptor, E-selectin ligand 1, Golgi sialoglycoprotein MG-160
All UniProt accessions (5): Q92896, H3BM42, H3BQT1, H3BQU9, H3BRD8
UniProt curated annotations — full annotation on UniProt →
Function. Binds fibroblast growth factor and E-selectin (cell-adhesion lectin on endothelial cells mediating the binding of neutrophils).
Subcellular location. Golgi apparatus membrane. Golgi outpost. Cytoplasm. Cytoskeleton. Microtubule organizing center.
Tissue specificity. Widely expressed. Highest levels in pancreas, skeletal muscle, placenta, heart, testis and ovary. Also found in the kidney, liver, lung and brain.
Post-translational modifications. Fucosylation is essential for binding to E-selectin. N-glycosylated. Contains sialic acid residues.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q92896-1 | 1 | yes |
| Q92896-2 | 2 | |
| Q92896-3 | 3 |
RefSeq proteins (3): NP_001139138, NP_001139139, NP_036333 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001893 | Cys-rich_GLG1_repeat | Repeat |
| IPR017873 | Cys-rich_GLG1_repeat_euk | Repeat |
| IPR039728 | GLG1 | Family |
Pfam: PF00839
UniProt features (42 total): repeat 16, sequence conflict 8, glycosylation site 5, modified residue 3, topological domain 2, compositionally biased region 2, splice variant 2, signal peptide 1, chain 1, region of interest 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q92896-F1 | 78.35 | 0.27 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (3): 961, 1201, 1190
Glycosylation sites (5): 165, 210, 581, 677, 786
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-202733 | Cell surface interactions at the vascular wall |
MSigDB gene sets: 245 (showing top):
GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, GOBP_CARTILAGE_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_REGULATION_OF_CARTILAGE_DEVELOPMENT, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, MORF_PSMC2, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_BONE_DEVELOPMENT, GOBP_PROTEIN_MATURATION, GATA3_01, GOBP_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY, YY1_02
GO Biological Process (6): transforming growth factor beta receptor signaling pathway (GO:0007179), negative regulation of protein processing (GO:0010955), protein processing (GO:0016485), negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512), regulation of chondrocyte differentiation (GO:0032330), bone morphogenesis (GO:0060349)
GO Molecular Function (2): signaling receptor binding (GO:0005102), fibroblast growth factor binding (GO:0017134)
GO Cellular Component (12): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), microtubule organizing center (GO:0005815), plasma membrane (GO:0005886), membrane (GO:0016020), extracellular matrix (GO:0031012), extracellular exosome (GO:0070062), sperm midpiece (GO:0097225), sperm principal piece (GO:0097228), sperm end piece (GO:0097229), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Hemostasis | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 6 |
| sperm flagellum | 3 |
| cellular response to transforming growth factor beta stimulus | 1 |
| transforming growth factor beta receptor superfamily signaling pathway | 1 |
| protein processing | 1 |
| negative regulation of proteolysis | 1 |
| regulation of protein processing | 1 |
| negative regulation of protein maturation | 1 |
| proteolysis | 1 |
| protein maturation | 1 |
| transforming growth factor beta receptor signaling pathway | 1 |
| regulation of transforming growth factor beta receptor signaling pathway | 1 |
| negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 1 |
| chondrocyte differentiation | 1 |
| regulation of cell differentiation | 1 |
| regulation of cartilage development | 1 |
| animal organ morphogenesis | 1 |
| skeletal system morphogenesis | 1 |
| bone development | 1 |
| protein binding | 1 |
| growth factor binding | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| microtubule cytoskeleton | 1 |
| membrane | 1 |
| cell periphery | 1 |
| external encapsulating structure | 1 |
| extracellular vesicle | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1022 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GLG1 | SELE | P16111 | 998 |
| GLG1 | SELP | P16109 | 983 |
| GLG1 | SELPLG | Q14242 | 886 |
| GLG1 | F11R | Q9Y624 | 796 |
| GLG1 | FGF2 | P09038 | 718 |
| GLG1 | VCAM1 | P19320 | 700 |
| GLG1 | SELL | P14151 | 690 |
| GLG1 | CD44 | P16070 | 673 |
| GLG1 | SPN | P16150 | 618 |
| GLG1 | FGF7 | P21781 | 566 |
| GLG1 | ITGB2 | P05107 | 559 |
| GLG1 | FGF18 | O76093 | 551 |
| GLG1 | FGF16 | O43320 | 547 |
| GLG1 | FGF20 | Q9NP95 | 546 |
| GLG1 | FGF22 | Q9HCT0 | 544 |
IntAct
112 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PKMYT1 | CCNB2 | psi-mi:“MI:0914”(association) | 0.730 |
| STX3 | SNAP23 | psi-mi:“MI:0914”(association) | 0.660 |
| MAPK7 | PFDN6 | psi-mi:“MI:0914”(association) | 0.640 |
| CAMKV | AP3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| ETFRF1 | NDUFAB1 | psi-mi:“MI:0914”(association) | 0.640 |
| OSBPL8 | CSNK2A2 | psi-mi:“MI:0914”(association) | 0.640 |
| SDC2 | PDPK1 | psi-mi:“MI:0914”(association) | 0.640 |
| PRKCZ | IPO5 | psi-mi:“MI:0914”(association) | 0.530 |
| PDPK1 | AGRN | psi-mi:“MI:0914”(association) | 0.530 |
| FBXO2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.530 |
| UST | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| HADHA | AGRN | psi-mi:“MI:0914”(association) | 0.530 |
| LGALS1 | LAMA5 | psi-mi:“MI:0914”(association) | 0.530 |
| UST | CANX | psi-mi:“MI:0914”(association) | 0.530 |
| CD44 | PDPK1 | psi-mi:“MI:0914”(association) | 0.530 |
| STX3 | NBAS | psi-mi:“MI:0914”(association) | 0.530 |
| env | PGRMC1 | psi-mi:“MI:0914”(association) | 0.460 |
| GLG1 | SELE | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DENR | psi-mi:“MI:0915”(physical association) | 0.400 | |
| MLKL | CASP8 | psi-mi:“MI:0914”(association) | 0.350 |
| RFWD3 | MBNL1 | psi-mi:“MI:0914”(association) | 0.350 |
| psi-mi:“MI:0914”(association) | 0.350 | ||
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 | |
| RIPK4 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| K8.1 | EXOC5 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (186): GLG1 (Affinity Capture-MS), GLG1 (Affinity Capture-MS), GLG1 (Affinity Capture-MS), GLG1 (Affinity Capture-MS), GLG1 (Affinity Capture-MS), GLG1 (Affinity Capture-MS), GLG1 (Affinity Capture-MS), GLG1 (Affinity Capture-MS), GLG1 (Affinity Capture-MS), GLG1 (Affinity Capture-MS), GLG1 (Affinity Capture-MS), GLG1 (Affinity Capture-MS), GLG1 (Affinity Capture-MS), GLG1 (Affinity Capture-MS), GLG1 (Affinity Capture-MS)
ESM2 similar proteins: F1R520, O13035, O18823, O35298, O70367, O75829, O77770, O94985, P02771, P02774, P04276, P05067, P07602, P08592, P0C5H9, P0C5I0, P10960, P12023, P17129, P17404, P20097, P21614, P26779, P28039, P28050, P49066, P53601, P53789, P55145, P79307, P80513, P81405, Q02391, Q28789, Q3SZ57, Q49AH0, Q5IS80, Q60495, Q61207, Q61543
Diamond homologs: Q02391, Q19459, Q61543, Q62638, Q92896, Q9Z1E9
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 148 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 |
|---|---|---|---|
| HS-GAG degradation | 5 | 23.2× | 8e-04 |
| Respiratory syncytial virus (RSV) attachment and entry | 5 | 23.2× | 8e-04 |
| Glycosaminoglycan metabolism | 6 | 12.3× | 1e-03 |
| Retinoid metabolism and transport | 5 | 11.6× | 3e-03 |
| Programmed Cell Death | 6 | 8.2× | 4e-03 |
| Metabolism of carbohydrates and carbohydrate derivatives | 7 | 7.9× | 2e-03 |
| Apoptosis | 5 | 7.8× | 9e-03 |
| Death Receptor Signaling | 6 | 7.8× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
179 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 136 |
| Likely benign | 3 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5007 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:74453333:ACCTA:A | acceptor_loss | 1.0000 |
| 16:74453334:CCTAG:C | acceptor_loss | 1.0000 |
| 16:74456643:CATTA:C | donor_loss | 1.0000 |
| 16:74456644:ATTAC:A | donor_loss | 1.0000 |
| 16:74456645:TTAC:T | donor_loss | 1.0000 |
| 16:74456646:TACC:T | donor_loss | 1.0000 |
| 16:74456648:C:CT | donor_loss | 1.0000 |
| 16:74456751:CATTT:C | acceptor_gain | 1.0000 |
| 16:74456752:ATTT:A | acceptor_gain | 1.0000 |
| 16:74456753:TTT:T | acceptor_gain | 1.0000 |
| 16:74456754:TT:T | acceptor_gain | 1.0000 |
| 16:74456756:C:A | acceptor_loss | 1.0000 |
| 16:74456756:C:CC | acceptor_gain | 1.0000 |
| 16:74456757:T:A | acceptor_loss | 1.0000 |
| 16:74457872:A:AC | donor_gain | 1.0000 |
| 16:74457873:C:CC | donor_gain | 1.0000 |
| 16:74457873:CGA:C | donor_gain | 1.0000 |
| 16:74457873:CGACG:C | donor_gain | 1.0000 |
| 16:74459678:TTA:T | donor_loss | 1.0000 |
| 16:74459679:TAC:T | donor_loss | 1.0000 |
| 16:74459680:A:C | donor_loss | 1.0000 |
| 16:74459681:CCTTT:C | donor_gain | 1.0000 |
| 16:74462191:AGGCG:A | acceptor_gain | 1.0000 |
| 16:74462192:GGCG:G | acceptor_gain | 1.0000 |
| 16:74462193:GCG:G | acceptor_gain | 1.0000 |
| 16:74462194:CG:C | acceptor_gain | 1.0000 |
| 16:74462194:CGC:C | acceptor_gain | 1.0000 |
| 16:74462194:CGCTG:C | acceptor_loss | 1.0000 |
| 16:74462195:GC:G | acceptor_loss | 1.0000 |
| 16:74462196:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
7814 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:74456664:C:A | W1119C | 1.000 |
| 16:74456664:C:G | W1119C | 1.000 |
| 16:74456677:C:G | R1115P | 1.000 |
| 16:74456686:A:G | L1112P | 1.000 |
| 16:74456697:G:C | C1108W | 1.000 |
| 16:74456698:C:G | C1108S | 1.000 |
| 16:74456698:C:T | C1108Y | 1.000 |
| 16:74456699:A:G | C1108R | 1.000 |
| 16:74456699:A:T | C1108S | 1.000 |
| 16:74456743:A:G | L1093P | 1.000 |
| 16:74457902:G:C | C1079W | 1.000 |
| 16:74457903:C:G | C1079S | 1.000 |
| 16:74457903:C:T | C1079Y | 1.000 |
| 16:74457904:A:G | C1079R | 1.000 |
| 16:74457904:A:T | C1079S | 1.000 |
| 16:74457926:A:C | C1071W | 1.000 |
| 16:74457927:C:A | C1071F | 1.000 |
| 16:74457927:C:G | C1071S | 1.000 |
| 16:74457927:C:T | C1071Y | 1.000 |
| 16:74457928:A:G | C1071R | 1.000 |
| 16:74457928:A:T | C1071S | 1.000 |
| 16:74457939:A:G | L1067P | 1.000 |
| 16:74457939:A:T | L1067H | 1.000 |
| 16:74459725:A:G | L1034P | 1.000 |
| 16:74462103:G:C | C1009W | 1.000 |
| 16:74462104:C:T | C1009Y | 1.000 |
| 16:74462105:A:G | C1009R | 1.000 |
| 16:74462128:A:G | L1001P | 1.000 |
| 16:74462178:A:C | C984W | 1.000 |
| 16:74462179:C:G | C984S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000005265 (16:74463153 G>A), RS1000008857 (16:74582795 G>C), RS1000017853 (16:74560538 T>C), RS1000038585 (16:74483518 A>G), RS1000041766 (16:74529457 T>C), RS1000060979 (16:74582632 A>C), RS1000064064 (16:74563404 G>A), RS1000068892 (16:74518397 A>G), RS1000074675 (16:74529162 T>G), RS1000110870 (16:74550744 A>G,T), RS1000111950 (16:74483123 T>C,G), RS1000135624 (16:74519504 C>T), RS1000159758 (16:74542633 T>C,G), RS1000171137 (16:74596094 G>C), RS1000188381 (16:74463936 C>A)
Disease associations
OMIM: gene MIM:600753 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
13 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000187_1 | Breast cancer | 4.000000e-07 |
| GCST002023_2 | Testicular germ cell tumor | 5.000000e-12 |
| GCST004608_205 | Granulocyte percentage of myeloid white cells | 2.000000e-15 |
| GCST004609_222 | Monocyte percentage of white cells | 6.000000e-14 |
| GCST004633_38 | Neutrophil percentage of white cells | 5.000000e-10 |
| GCST007325_45 | General risk tolerance (MTAG) | 5.000000e-08 |
| GCST008368_7 | Plasma anti-thyroid peroxidase levels | 2.000000e-06 |
| GCST90002379_176 | Basophil count | 3.000000e-09 |
| GCST90002393_273 | Monocyte count | 2.000000e-11 |
| GCST90002394_538 | Monocyte percentage of white cells | 2.000000e-32 |
| GCST90002398_300 | Neutrophil count | 4.000000e-16 |
| GCST90002399_267 | Neutrophil percentage of white cells | 3.000000e-16 |
| GCST90002407_559 | White blood cell count | 5.000000e-09 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007997 | granulocyte percentage of myeloid white cells |
| EFO:0007989 | monocyte percentage of leukocytes |
| EFO:0007990 | neutrophil percentage of leukocytes |
| EFO:0008579 | risk-taking behaviour |
| EFO:0005090 | basophil count |
| EFO:0005091 | monocyte count |
| EFO:0004833 | neutrophil count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067320 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.79 | Kd | 161.6 | nM | CHEMBL5653589 |
| 6.79 | ED50 | 161.6 | nM | CHEMBL5653589 |
| 5.18 | Kd | 6563 | nM | CHEMBL3752910 |
| 5.18 | ED50 | 6563 | nM | CHEMBL3752910 |
PubChem BioAssay actives
2 with measured affinity, of 4 total; 2 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-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148432: Binding affinity to human GLG1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.1616 | uM |
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148432: Binding affinity to human GLG1 incubated for 45 mins by Kinobead based pull down assay | kd | 6.5633 | uM |
CTD chemical–gene interactions
56 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | increases expression | 3 |
| Air Pollutants | affects cotreatment, decreases expression, increases abundance, affects expression | 2 |
| Ozone | affects expression, affects cotreatment, decreases expression, increases abundance | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol F | increases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | increases abundance, affects cotreatment, decreases expression | 1 |
| deoxynivalenol | decreases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| chloropicrin | increases expression | 1 |
| K 7174 | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| jinfukang | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Acrolein | affects cotreatment, decreases expression, increases abundance | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651474 | Binding | Binding affinity to human GLG1 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D1MU | Abcam K-562 GLG1 KO | Cancer cell line | Female |
| CVCL_D2JE | Abcam Raji GLG1 KO | Cancer cell line | Male |
| CVCL_UQ61 | Abcam Jurkat GLG1 KO | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): testicular cancer