MGST1
geneOn this page
Also known as MGST-IPMAN
Summary
MGST1 (microsomal glutathione S-transferase 1, HGNC:7061) is a protein-coding gene on chromosome 12p12.3, encoding Microsomal glutathione S-transferase 1 (P10620). Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles.
The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, two of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. Other family members, demonstrating glutathione S-transferase and peroxidase activities, are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. This gene encodes a protein that catalyzes the conjugation of glutathione to electrophiles and the reduction of lipid hydroperoxides. This protein is localized to the endoplasmic reticulum and outer mitochondrial membrane where it is thought to protect these membranes from oxidative stress. Several transcript variants, some non-protein coding and some protein coding, have been found for this gene.
Source: NCBI Gene 4257 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 43 total
- Druggable target: yes
- MANE Select transcript:
NM_020300
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7061 |
| Approved symbol | MGST1 |
| Name | microsomal glutathione S-transferase 1 |
| Location | 12p12.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGST-I, PMAN |
| Ensembl gene | ENSG00000008394 |
| Ensembl biotype | protein_coding |
| OMIM | 138330 |
| Entrez | 4257 |
Gene structure
Transcript identifiers
Ensembl transcripts: 50 — 41 protein_coding, 6 protein_coding_CDS_not_defined, 2 retained_intron, 1 TEC
ENST00000010404, ENST00000359720, ENST00000396207, ENST00000396209, ENST00000396210, ENST00000534835, ENST00000535309, ENST00000535624, ENST00000536371, ENST00000537878, ENST00000538857, ENST00000538885, ENST00000539036, ENST00000539708, ENST00000540056, ENST00000540126, ENST00000542256, ENST00000543076, ENST00000624056, ENST00000902095, ENST00000902096, ENST00000902097, ENST00000902098, ENST00000902099, ENST00000902100, ENST00000902101, ENST00000902102, ENST00000902103, ENST00000902104, ENST00000902105, ENST00000902106, ENST00000902107, ENST00000902108, ENST00000902109, ENST00000902110, ENST00000902111, ENST00000902112, ENST00000902113, ENST00000902114, ENST00000902115, ENST00000902116, ENST00000921235, ENST00000921236, ENST00000921237, ENST00000921238, ENST00000921239, ENST00000921240, ENST00000921241, ENST00000960433, ENST00000960434
RefSeq mRNA: 24 — MANE Select: NM_020300
NM_001260511, NM_001260512, NM_001267598, NM_001414355, NM_001414356, NM_001414357, NM_001414358, NM_001414359, NM_001414361, NM_001414362, NM_001414363, NM_001414365, NM_001414367, NM_001414368, NM_001414369, NM_001414370, NM_001414371, NM_001414372, NM_001414373, NM_001414374, NM_020300, NM_145764, NM_145791, NM_145792
CCDS: CCDS58209, CCDS8677
Canonical transcript exons
ENST00000396210 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001524244 | 16363795 | 16364410 |
| ENSE00001524245 | 16347645 | 16347710 |
| ENSE00003528377 | 16354231 | 16354378 |
| ENSE00003669648 | 16357605 | 16357699 |
Expression profiles
Bgee: expression breadth ubiquitous, 258 present calls, max score 99.86.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 302.1066 / max 5232.6914, expressed in 1686 samples.
FANTOM5 promoters (13 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 124524 | 247.8202 | 1682 |
| 124525 | 35.5051 | 1622 |
| 124522 | 7.9324 | 1098 |
| 124523 | 7.5410 | 1330 |
| 124521 | 0.8104 | 287 |
| 124529 | 0.5085 | 230 |
| 124531 | 0.4465 | 216 |
| 124527 | 0.3618 | 155 |
| 124530 | 0.3036 | 134 |
| 124528 | 0.2852 | 121 |
Top tissues by expression
259 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right adrenal gland | UBERON:0001233 | 99.86 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 99.86 | gold quality |
| left adrenal gland | UBERON:0001234 | 99.83 | gold quality |
| adrenal cortex | UBERON:0001235 | 99.81 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 99.80 | gold quality |
| right lobe of liver | UBERON:0001114 | 99.75 | gold quality |
| ileal mucosa | UBERON:0000331 | 99.74 | gold quality |
| kidney epithelium | UBERON:0004819 | 99.72 | gold quality |
| adipose tissue | UBERON:0001013 | 99.65 | gold quality |
| adrenal gland | UBERON:0002369 | 99.65 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 99.61 | gold quality |
| liver | UBERON:0002107 | 99.60 | gold quality |
| omental fat pad | UBERON:0010414 | 99.60 | gold quality |
| peritoneum | UBERON:0002358 | 99.58 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 99.57 | gold quality |
| pericardium | UBERON:0002407 | 99.46 | gold quality |
| upper leg skin | UBERON:0004262 | 99.45 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 99.41 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 99.36 | gold quality |
| adrenal tissue | UBERON:0018303 | 99.35 | gold quality |
| upper arm skin | UBERON:0004263 | 99.32 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 99.30 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 99.27 | gold quality |
| thyroid gland | UBERON:0002046 | 99.22 | gold quality |
| decidua | UBERON:0002450 | 99.20 | gold quality |
| stromal cell of endometrium | CL:0002255 | 99.19 | gold quality |
| colonic mucosa | UBERON:0000317 | 99.15 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 99.13 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 99.09 | gold quality |
| mammary gland | UBERON:0001911 | 99.07 | gold quality |
Single-cell (SCXA)
Detected in 36 experiment(s), a significant marker in 35.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10553 | yes | 3501.15 |
| E-HCAD-9 | yes | 3460.61 |
| E-MTAB-8495 | yes | 3414.31 |
| E-MTAB-6308 | yes | 3213.18 |
| E-HCAD-15 | yes | 1663.43 |
| E-MTAB-6701 | yes | 1515.55 |
| E-HCAD-1 | yes | 1165.50 |
| E-HCAD-24 | yes | 1163.44 |
| E-CURD-126 | yes | 1036.50 |
| E-GEOD-84465 | yes | 856.09 |
| E-MTAB-5061 | yes | 850.67 |
| E-MTAB-8884 | yes | 688.86 |
| E-CURD-46 | yes | 580.08 |
| E-GEOD-81547 | yes | 530.89 |
| E-MTAB-11121 | yes | 498.04 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MYC, NFE2L2, SP1
miRNA regulators (miRDB)
24 targeting MGST1, 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-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-8087 | 99.90 | 69.55 | 1351 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-7161-5P | 99.68 | 68.92 | 1592 |
| HSA-MIR-548U | 99.65 | 67.78 | 1463 |
| HSA-MIR-10393-5P | 99.65 | 68.01 | 1368 |
| HSA-MIR-513A-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-513C-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-664A-3P | 99.22 | 71.08 | 2696 |
| HSA-MIR-4291 | 99.20 | 68.88 | 2969 |
| HSA-MIR-4528 | 99.18 | 69.77 | 1936 |
| HSA-MIR-8077 | 99.17 | 66.67 | 862 |
| HSA-MIR-3606-3P | 99.11 | 69.84 | 3254 |
| HSA-MIR-922 | 99.02 | 67.23 | 1838 |
| HSA-MIR-3619-5P | 99.00 | 68.87 | 2308 |
| HSA-MIR-1257 | 98.97 | 68.02 | 1133 |
| HSA-MIR-6074 | 98.89 | 69.64 | 2187 |
| HSA-MIR-4272 | 98.76 | 68.74 | 1810 |
| HSA-MIR-761 | 98.71 | 68.07 | 2051 |
| HSA-MIR-214-3P | 98.71 | 68.12 | 2128 |
| HSA-MIR-640 | 98.44 | 66.93 | 644 |
| HSA-MIR-10397-3P | 97.78 | 65.70 | 601 |
| HSA-MIR-376A-5P | 97.70 | 65.61 | 863 |
| HSA-MIR-6818-5P | 97.50 | 67.10 | 1167 |
Literature-anchored findings (GeneRIF, showing 16)
- As an addition to the high-density SNP (single-nucleotide polymorphism) maps of 12 glutathione S-transferase and related genes reported earlier, a SNP map of the microsomal glutathione S-transferase 1 (MGST1) gene is provided. (PMID:11587073)
- The results indicate that Sp1 is the protein mediating the basal transcription of MGST1 (PMID:12818425)
- Genes encoding KU70, MGST1 and BIK show age-related mRNA expression levels in hematopoietic stem cells. (PMID:17714764)
- MGST1 protects cells (and mitochondria) by both conjugation and glutathione peroxidase functions. A new protective mechanism against cisplatin is also indicated (PMID:20727966)
- The results suggest that MGST1 gene polymorphisms as one of environment gene may contribute to colorectal cancer risk in younger ages. (PMID:23314968)
- Differential expression of SOD2, ALDH1A1, and MGST1 genes in the anterior lens capsules of patients with pseudoexfoliation syndrome suggest that diseased tissue appears to respond to the previously reported oxidative stress. (PMID:23805041)
- possibly marked variations in NB mitochondrial homeostasis, they also imply that the results of these earlier studies using NB cells are not transferable to other tumor and cell types that express MGST1 at high concentrations. (PMID:24486338)
- This study provides the most comprehensive evaluation of inflammation-related germline variation in relation to risk of BE/OA and suggests that variants in MGST1 influence disease susceptibility. (PMID:27486097)
- The MSGT1 displays a preexisting dynamic equilibrium between high- and low-activity forms. (PMID:28558199)
- High MGST1 expression is associated with Bendamustine-resistance in Mantle Cell Lymphoma. (PMID:29695404)
- Significant association for germline variations only in the COX pathway (specifically in the antioxidant microsomal glutathione S-transferase 1 [MGST1] gene), with risk for Barrett’s esophagus and the combined outcome of Barrett’s esophagus and esophageal adenocarcinoma was found. (PMID:29713984)
- MGST1 plays an important role in lung adenocarcinoma (LUAD)tumorigenesis and might serve as a potential prognostic factor and therapeutic target in LUAD. (PMID:31707341)
- MGST1 is a redox-sensitive repressor of ferroptosis in pancreatic cancer cells. (PMID:33539732)
- MiR-379-5p targets microsomal glutathione transferase 1 (MGST1) to regulate human glioma in cell proliferation, migration and invasion and epithelial-mesenchymal transition (EMT). (PMID:34171541)
- Microsomal glutathione S-transferase 1 targets the autophagy signaling pathway to suppress ferroptosis in gastric carcinoma cells. (PMID:37161854)
- A role for microsomal glutathione transferase 1 in melanin biosynthesis and melanoma progression. (PMID:37321450)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mgst1.2 | ENSDARG00000022165 |
| danio_rerio | mgst1.1 | ENSDARG00000032618 |
| mus_musculus | Mgst1 | ENSMUSG00000008540 |
| rattus_norvegicus | Mgst1 | ENSRNOG00000007743 |
| drosophila_melanogaster | Mgstl | FBGN0025814 |
| drosophila_melanogaster | CG33177 | FBGN0053177 |
| drosophila_melanogaster | CG33178 | FBGN0053178 |
Paralogs (1): PTGES (ENSG00000148344)
Protein
Protein identifiers
Microsomal glutathione S-transferase 1 — P10620 (reviewed: P10620)
Alternative names: Microsomal GST-I
All UniProt accessions (6): P10620, F5GX73, F5H613, F5H6X2, F5H760, F5H7F6
UniProt curated annotations — full annotation on UniProt →
Function. Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles.
Subunit / interactions. Homotrimer; The trimer binds only one molecule of glutathione.
Subcellular location. Endoplasmic reticulum membrane. Mitochondrion outer membrane.
Tissue specificity. Highly expressed in liver.
Similarity. Belongs to the MAPEG family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P10620-1 | 1 | yes |
| P10620-2 | 2 |
RefSeq proteins (24): NP_001247440, NP_001247441, NP_001254527, NP_001401284, NP_001401285, NP_001401286, NP_001401287, NP_001401288, NP_001401290, NP_001401291, NP_001401292, NP_001401294, NP_001401296, NP_001401297, NP_001401298, NP_001401299, NP_001401300, NP_001401301, NP_001401302, NP_001401303, NP_064696, NP_665707, NP_665734, NP_665735 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001129 | Membr-assoc_MAPEG | Family |
| IPR023352 | MAPEG-like_dom_sf | Homologous_superfamily |
| IPR040162 | MGST1-like | Family |
Pfam: PF01124
Catalyzed reactions (Rhea), 1 shown:
- RX + glutathione = an S-substituted glutathione + a halide anion + H(+) (RHEA:16437)
UniProt features (20 total): binding site 6, topological domain 5, transmembrane region 4, modified residue 3, chain 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P10620-F1 | 78.65 | 0.07 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (6): 38; 73; 74; 76; 81; 121
Post-translational modifications (3): 42, 55, 60
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-156590 | Glutathione conjugation |
| R-HSA-5423646 | Aflatoxin activation and detoxification |
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-1430728 | Metabolism |
| R-HSA-156580 | Phase II - Conjugation of compounds |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-211859 | Biological oxidations |
MSigDB gene sets: 282 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, REACTOME_BIOLOGICAL_OXIDATIONS, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOCC_VACUOLAR_MEMBRANE, GOCC_SECRETORY_GRANULE, MODULE_151, GOBP_MODIFIED_AMINO_ACID_TRANSPORT, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOMF_GLUTATHIONE_TRANSFERASE_ACTIVITY, GOLDRATH_ANTIGEN_RESPONSE, HERNANDEZ_MITOTIC_ARREST_BY_DOCETAXEL_2_UP, WEI_MYCN_TARGETS_WITH_E_BOX, SCHUHMACHER_MYC_TARGETS_UP, GOBP_CELLULAR_RESPONSE_TO_TOXIC_SUBSTANCE
GO Biological Process (3): glutathione transport (GO:0034635), cellular response to lipid hydroperoxide (GO:0071449), cellular oxidant detoxification (GO:0098869)
GO Molecular Function (4): glutathione transferase activity (GO:0004364), glutathione peroxidase activity (GO:0004602), protein binding (GO:0005515), transferase activity (GO:0016740)
GO Cellular Component (8): mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), peroxisomal membrane (GO:0005778), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), membrane (GO:0016020), azurophil granule membrane (GO:0035577)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Biological oxidations | 2 |
| Phase II - Conjugation of compounds | 1 |
| Innate Immune System | 1 |
| Immune System | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 2 |
| intracellular membrane-bounded organelle | 2 |
| tripeptide transport | 1 |
| modified amino acid transport | 1 |
| sulfur compound transport | 1 |
| response to lipid hydroperoxide | 1 |
| cellular response to lipid | 1 |
| cellular response to hydroperoxide | 1 |
| cellular detoxification | 1 |
| transferase activity, transferring alkyl or aryl (other than methyl) groups | 1 |
| peroxidase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| mitochondrial membrane | 1 |
| organelle outer membrane | 1 |
| peroxisome | 1 |
| microbody membrane | 1 |
| endomembrane system | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
| lysosomal membrane | 1 |
| secretory granule membrane | 1 |
| azurophil granule | 1 |
Protein interactions and networks
STRING
1220 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MGST1 | MGST2 | Q99735 | 968 |
| MGST1 | MGST3 | O14880 | 948 |
| MGST1 | LTC4S | Q16873 | 916 |
| MGST1 | ALOX5AP | P20292 | 894 |
| MGST1 | HPGDS | O60760 | 759 |
| MGST1 | GSTA3 | Q16772 | 663 |
| MGST1 | SLCO6A1 | Q86UG4 | 646 |
| MGST1 | GSTO1 | P78417 | 589 |
| MGST1 | GSTK1 | Q9Y2Q3 | 564 |
| MGST1 | GSTM2 | P28161 | 532 |
| MGST1 | GSTP1 | P09211 | 531 |
| MGST1 | ALOX5 | P09917 | 515 |
| MGST1 | GSTA1 | P08263 | 504 |
| MGST1 | GSTT2B | P0CG30 | 497 |
| MGST1 | PPIF | P30405 | 494 |
IntAct
79 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RAF1 | CALU | psi-mi:“MI:0914”(association) | 0.640 |
| VIP | MGST1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FZD7 | MGST1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGST1 | SIGLEC12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EGF | MGST1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TNFRSF10C | MGST1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGST1 | FXYD3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARMC6 | SLC27A2 | psi-mi:“MI:0914”(association) | 0.530 |
| ANKH | FAM234B | psi-mi:“MI:0914”(association) | 0.530 |
| ERBB2 | NDUFA4 | psi-mi:“MI:0914”(association) | 0.530 |
| NELFB | MGST1 | psi-mi:“MI:0915”(physical association) | 0.520 |
| RAB11A | LANCL1 | psi-mi:“MI:2364”(proximity) | 0.420 |
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 | |
| E5 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| HAX1 | psi-mi:“MI:0914”(association) | 0.350 | |
| Prdm16 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| Mecom | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| NMES1 | COX7A2L | psi-mi:“MI:0914”(association) | 0.350 |
| CHCHD10 | ACSL4 | psi-mi:“MI:0914”(association) | 0.350 |
| COQ9 | ACOT7 | psi-mi:“MI:0914”(association) | 0.350 |
| FAM136A | ALDH1L1 | psi-mi:“MI:0914”(association) | 0.350 |
| NDUFA4 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (164): LTC4S (Two-hybrid), MGST1 (Affinity Capture-MS), MGST1 (Proximity Label-MS), MGST1 (Affinity Capture-MS), MGST1 (Affinity Capture-MS), MGST1 (Affinity Capture-RNA), MGST1 (Affinity Capture-MS), MGST1 (Affinity Capture-MS), MGST1 (Proximity Label-MS), MGST1 (Affinity Capture-MS), MGST1 (Proximity Label-MS), MGST1 (Affinity Capture-MS), MGST1 (Affinity Capture-MS), MGST1 (Proximity Label-MS), MGST1 (Co-fractionation)
ESM2 similar proteins: A0A2I1C3V3, A0SYQ0, A1L2F6, A2RST1, A4DA06, A6XA80, A8X8R3, J7FIJ6, O14684, O14880, O74507, O94511, P08011, P0DN89, P10620, P64515, P64516, P70245, P73795, P79382, Q15125, Q16873, Q17428, Q28GF8, Q296J9, Q2KJG4, Q2NKS0, Q3T100, Q41745, Q54GA9, Q57ZC7, Q5R9A6, Q60490, Q60860, Q64L89, Q6GNM0, Q6GPW4, Q6PWL6, Q8HZJ2, Q91VS7
Diamond homologs: A0SYQ0, O14684, P08011, P10620, P79382, Q64L89, Q6PWL6, Q8HZJ2, Q91VS7, Q95L14, Q9JHF3, Q9JM51
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 85 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of MAPK cascade | 7 | 8.2× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
43 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 24 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1778 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:16560408:CTTA:C | donor_loss | 1.0000 |
| 12:16560409:TTAC:T | donor_loss | 1.0000 |
| 12:16560410:TA:T | donor_loss | 1.0000 |
| 12:16560411:A:C | donor_loss | 1.0000 |
| 12:16560412:CCT:C | donor_gain | 1.0000 |
| 12:16560535:GAGCC:G | acceptor_loss | 1.0000 |
| 12:16560537:GC:G | acceptor_gain | 1.0000 |
| 12:16560537:GCCTA:G | acceptor_loss | 1.0000 |
| 12:16560538:CC:C | acceptor_gain | 1.0000 |
| 12:16560538:CCT:C | acceptor_loss | 1.0000 |
| 12:16560539:C:CA | acceptor_loss | 1.0000 |
| 12:16560539:C:CC | acceptor_gain | 1.0000 |
| 12:16560540:T:A | acceptor_loss | 1.0000 |
| 12:16590509:A:AC | donor_gain | 1.0000 |
| 12:16600746:T:TA | donor_gain | 1.0000 |
| 12:16600864:TATAC:T | acceptor_gain | 1.0000 |
| 12:16600865:ATAC:A | acceptor_gain | 1.0000 |
| 12:16600866:TAC:T | acceptor_gain | 1.0000 |
| 12:16600866:TACC:T | acceptor_loss | 1.0000 |
| 12:16600869:C:CC | acceptor_gain | 1.0000 |
| 12:16600869:CTAAA:C | acceptor_loss | 1.0000 |
| 12:16354219:A:G | acceptor_gain | 0.9900 |
| 12:16354228:A:AG | acceptor_gain | 0.9900 |
| 12:16354229:A:G | acceptor_gain | 0.9900 |
| 12:16354374:GAAAG:G | donor_gain | 0.9900 |
| 12:16354376:AAG:A | donor_loss | 0.9900 |
| 12:16354377:AG:A | donor_loss | 0.9900 |
| 12:16354378:GG:G | donor_loss | 0.9900 |
| 12:16354380:T:A | donor_loss | 0.9900 |
| 12:16357600:GATA:G | acceptor_loss | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000005682 (12:16517888 A>C,G), RS1000015119 (12:16477572 G>C,T), RS1000018649 (12:16359891 T>G), RS1000029810 (12:16359618 A>G,T), RS1000057979 (12:16571474 A>C,G), RS1000071537 (12:16469519 G>A), RS1000080146 (12:16386496 T>C), RS1000099350 (12:16488357 A>G,T), RS1000100626 (12:16426832 C>A,T), RS1000112128 (12:16398869 G>T), RS1000145160 (12:16438853 A>G), RS1000149954 (12:16553826 G>C), RS1000164506 (12:16505620 A>G,T), RS1000166261 (12:16378117 T>G), RS1000183115 (12:16516209 CAA>C)
Disease associations
OMIM: gene MIM:138330 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): pulmonary disease, chronic obstructive, susceptibility to (MONDO:0100167)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001525_20 | Visceral fat | 5.000000e-06 |
| GCST002816_1 | Colorectal cancer (aspirin and/or NSAID use interaction) | 5.000000e-09 |
| GCST009391_71 | Metabolite levels | 4.000000e-06 |
| GCST009524_200 | Household income (MTAG) | 6.000000e-09 |
| GCST011354_10 | Bell’s palsy | 8.000000e-06 |
| GCST011461_2 | Barrett’s esophagus or Esophageal adenocarcinoma | 1.000000e-08 |
| GCST011461_7 | Barrett’s esophagus or Esophageal adenocarcinoma | 5.000000e-09 |
| GCST011462_2 | Barrett’s esophagus or esophageal adenocarcinoma x sex interaction (2df test) | 4.000000e-08 |
| GCST011584_1 | Metastatic colorectal cancer survival in treatment with chemotherapy plus biologics | 1.000000e-06 |
| GCST90026416_16 | Mild age-related type 2 diabetes | 8.000000e-06 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007010 | drug use measurement |
| EFO:0007012 | NSAID use measurement |
| EFO:0007013 | aspirin use measurement |
| EFO:0010353 | diacylglycerol 34:2 measurement |
| EFO:0009695 | household income |
| EFO:0008343 | sex interaction measurement |
| EFO:0000714 | survival time |
| EFO:1001480 | metastatic colorectal cancer |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL1743184 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
Binding affinities (BindingDB)
2 measured of 4 human assays (4 total across all organisms); most potent 2 below. Values come from heterogeneous assays and are not directly comparable.
| Ligand | Measure | Value |
|---|---|---|
| 640/359 | KI | 32700 nM |
| CEFOPERAZONE | KI | 245000 nM |
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.42 | Kd | 3764 | nM | CHEMBL5653589 |
| 5.42 | ED50 | 3764 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 6 total; 1 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 | 2148747: Binding affinity to human MGST1 incubated for 45 mins by Kinobead based pull down assay | kd | 3.7638 | uM |
CTD chemical–gene interactions
111 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tobacco Smoke Pollution | decreases expression, increases expression | 6 |
| Benzo(a)pyrene | increases methylation, increases expression | 5 |
| bisphenol A | affects expression, decreases expression, increases expression, increases methylation | 4 |
| sodium arsenite | increases abundance, increases expression, increases reaction, decreases expression | 4 |
| Acetaminophen | decreases expression, affects cotreatment, affects expression | 4 |
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases methylation | 4 |
| Cadmium Chloride | increases expression, decreases reaction, increases abundance, increases palmitoylation, decreases expression | 4 |
| trichostatin A | increases expression, affects cotreatment | 3 |
| Cadmium | decreases expression, increases expression, decreases reaction, increases abundance, increases palmitoylation | 3 |
| Estradiol | affects cotreatment, increases expression, decreases expression | 3 |
| Tetrachlorodibenzodioxin | decreases expression, increases expression | 3 |
| Tretinoin | decreases expression | 3 |
| lead acetate | increases expression | 2 |
| arsenite | affects binding, increases reaction, increases abundance, increases expression | 2 |
| nickel sulfate | increases expression | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression, increases expression | 2 |
| Arsenic | increases expression, increases abundance | 2 |
| Nickel | decreases expression | 2 |
| Sodium Selenite | decreases expression, increases expression | 2 |
| beta-Naphthoflavone | increases expression | 2 |
| bisphenol F | increases expression | 1 |
| TL8-506 | affects cotreatment, increases expression | 1 |
| bismuth tripotassium dicitrate | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| 6-hydroxy-5-((p- sulfophenyl)azo)-2-naphthalenesulfonic acid disodium salt | affects cotreatment, increases expression | 1 |
| sodium arsenate | increases abundance, increases expression | 1 |
| O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate | affects response to substance, affects expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, increases expression | 1 |
| beta-lapachone | increases expression | 1 |
ChEMBL screening assays
3 unique, capped per target: 2 admet, 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1743239 | ADMET | Substrates for human microsomal glutathione transferase MGST1 | Casarett and Doull’s Toxicology The Basic Science of Poisons, 7th edition |
| CHEMBL5651789 | Binding | Binding affinity to human MGST1 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
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E1MU | HyCyte SK-HEP-1 KO-hMGST1 | 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): Barrett esophagus, Bell’s palsy, esophageal adenocarcinoma, pulmonary disease, chronic obstructive, susceptibility to