AIG1
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Also known as dJ95L4.1AIG-1FLJ10485
Summary
AIG1 (androgen induced 1, HGNC:21607) is a protein-coding gene on chromosome 6q24.2, encoding Androgen-induced gene 1 protein (Q9NVV5). Hydrolyzes bioactive fatty-acid esters of hydroxy-fatty acids (FAHFAs), but not other major classes of lipids.
Enables hydrolase activity. Involved in long-chain fatty acid catabolic process. Located in membrane.
Source: NCBI Gene 51390 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 42 total
- MANE Select transcript:
NM_016108
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21607 |
| Approved symbol | AIG1 |
| Name | androgen induced 1 |
| Location | 6q24.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | dJ95L4.1, AIG-1, FLJ10485 |
| Ensembl gene | ENSG00000146416 |
| Ensembl biotype | protein_coding |
| OMIM | 608514 |
| Entrez | 51390 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 9 protein_coding, 1 retained_intron
ENST00000275235, ENST00000357847, ENST00000367596, ENST00000367601, ENST00000447498, ENST00000458219, ENST00000470265, ENST00000494282, ENST00000629020, ENST00000646199
RefSeq mRNA: 23 — MANE Select: NM_016108
NM_001286587, NM_001286588, NM_001286589, NM_001363721, NM_001366344, NM_001366345, NM_001366346, NM_001366347, NM_001366348, NM_001366349, NM_001366350, NM_001366351, NM_001366352, NM_001366353, NM_001366354, NM_001366355, NM_001366356, NM_001366358, NM_001366359, NM_001366361, NM_001366362, NM_001366363, NM_016108
CCDS: CCDS5198, CCDS69215, CCDS69216, CCDS87450, CCDS94013, CCDS94014
Canonical transcript exons
ENST00000357847 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001931414 | 143060889 | 143061066 |
| ENSE00002225513 | 143165082 | 143165183 |
| ENSE00002237822 | 143284110 | 143284225 |
| ENSE00003590091 | 143136835 | 143136990 |
| ENSE00003728578 | 143339639 | 143341058 |
| ENSE00003785805 | 143333282 | 143333445 |
Expression profiles
Bgee: expression breadth ubiquitous, 273 present calls, max score 98.31.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 45.2359 / max 456.3778, expressed in 1789 samples.
FANTOM5 promoters (14 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 70229 | 37.3588 | 1756 |
| 70227 | 3.2428 | 1178 |
| 70231 | 1.3691 | 97 |
| 70226 | 0.7160 | 353 |
| 70233 | 0.5574 | 81 |
| 70235 | 0.4837 | 82 |
| 70234 | 0.4745 | 75 |
| 70237 | 0.3145 | 59 |
| 70228 | 0.2588 | 130 |
| 70230 | 0.1283 | 54 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 98.31 | gold quality |
| right lobe of liver | UBERON:0001114 | 96.73 | gold quality |
| liver | UBERON:0002107 | 95.13 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 94.63 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 94.42 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 94.39 | gold quality |
| islet of Langerhans | UBERON:0000006 | 94.33 | gold quality |
| jejunal mucosa | UBERON:0000399 | 93.95 | gold quality |
| prefrontal cortex | UBERON:0000451 | 93.89 | gold quality |
| spinal cord | UBERON:0002240 | 93.85 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 93.64 | gold quality |
| stromal cell of endometrium | CL:0002255 | 93.59 | gold quality |
| primary visual cortex | UBERON:0002436 | 93.57 | gold quality |
| calcaneal tendon | UBERON:0003701 | 93.55 | gold quality |
| adult organism | UBERON:0007023 | 93.43 | gold quality |
| renal medulla | UBERON:0000362 | 93.38 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 93.25 | gold quality |
| heart right ventricle | UBERON:0002080 | 93.14 | gold quality |
| corpus callosum | UBERON:0002336 | 93.06 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 92.68 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 92.67 | gold quality |
| cingulate cortex | UBERON:0003027 | 92.63 | gold quality |
| thoracic aorta | UBERON:0001515 | 92.50 | gold quality |
| ascending aorta | UBERON:0001496 | 92.49 | gold quality |
| heart left ventricle | UBERON:0002084 | 92.44 | gold quality |
| cardiac ventricle | UBERON:0002082 | 92.43 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 92.36 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 92.32 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 92.12 | gold quality |
| right frontal lobe | UBERON:0002810 | 92.09 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-10 | yes | 32.70 |
| E-ANND-3 | yes | 11.60 |
| E-GEOD-100618 | no | 182.35 |
| E-GEOD-109979 | no | 72.34 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
49 targeting AIG1, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-MIR-489-3P | 99.80 | 66.46 | 839 |
| HSA-MIR-3913-3P | 99.74 | 66.53 | 938 |
| HSA-MIR-7154-5P | 99.69 | 70.52 | 1900 |
| HSA-MIR-651-5P | 99.64 | 68.49 | 1104 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
Literature-anchored findings (GeneRIF, showing 3)
- identified a novel Pirh2-interacting protein, AIG1, by yeast two-hybrid screening and confirmed its interaction with p53 both in vitro and in vivo (PMID:21622095)
- These results indicate that AIG1 and ADTRP are founding members of an evolutionarily conserved class of transmembrane threonine hydrolases involved in bioactive lipid metabolism. (PMID:27018888)
- High AIG1 expression is associated with virulence in clinical isolates of Entamoeba histolytica. (PMID:29554130)
Cross-species orthologs
10 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | aig1 | ENSDARG00000007171 |
| mus_musculus | Aig1 | ENSMUSG00000019806 |
| rattus_norvegicus | Aig1 | ENSRNOG00000010753 |
| drosophila_melanogaster | CG11601 | FBGN0031244 |
| drosophila_melanogaster | CG3625 | FBGN0031245 |
| drosophila_melanogaster | CG6149 | FBGN0036158 |
| caenorhabditis_elegans | WBGENE00007068 | |
| caenorhabditis_elegans | WBGENE00007994 | |
| caenorhabditis_elegans | WBGENE00007995 | |
| caenorhabditis_elegans | WBGENE00304175 |
Paralogs (1): ADTRP (ENSG00000111863)
Protein
Protein identifiers
Androgen-induced gene 1 protein — Q9NVV5 (reviewed: Q9NVV5)
Alternative names: Fatty acid esters of hydroxy fatty acids hydrolase AIG1
All UniProt accessions (6): Q9NVV5, A0A2R8YCJ8, Q5T2H0, Q5T2H3, Q5T2H4, Q5THU2
UniProt curated annotations — full annotation on UniProt →
Function. Hydrolyzes bioactive fatty-acid esters of hydroxy-fatty acids (FAHFAs), but not other major classes of lipids. Show a preference for FAHFAs with branching distal from the carboxylate head group of the lipids.
Subcellular location. Cell membrane.
Tissue specificity. Highly expressed in heart, ovary, testis, liver, and kidney, at lower levels in spleen, prostate, brain, skeletal muscle, pancreas, small intestine and colon, and undetected in peripheral blood leukocytes, thymus, lung and placenta. AIG1 expression is higher in hair follicles from males than from females.
Activity regulation. Inhibited by N-hydroxyhydantoin carbamate JJH260 and beta-lactone KC01.
Induction. By dihydrotestosterone (DHT).
Similarity. Belongs to the AIG1 family.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NVV5-2 | 1 | yes |
| Q9NVV5-1 | 2 | |
| Q9NVV5-3 | 3 | |
| Q9NVV5-4 | 4 | |
| Q9NVV5-5 | 5 | |
| Q9NVV5-6 | 6 |
RefSeq proteins (23): NP_001273516, NP_001273517, NP_001273518, NP_001350650, NP_001353273, NP_001353274, NP_001353275, NP_001353276, NP_001353277, NP_001353278, NP_001353279, NP_001353280, NP_001353281, NP_001353282, NP_001353283, NP_001353284, NP_001353285, NP_001353287, NP_001353288, NP_001353290, NP_001353291, NP_001353292, NP_057192* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006838 | ADTRP_AIG1 | Family |
Pfam: PF04750
Catalyzed reactions (Rhea), 12 shown:
- 9-(9Z-octadecenoyloxy)-octadecanoate + H2O = 9-hydroxy-octadecanoate + (9Z)-octadecenoate + H(+) (RHEA:52048)
- 9-hexadecanoyloxy-octadecanoate + H2O = 9-hydroxy-octadecanoate + hexadecanoate + H(+) (RHEA:52052)
- 12-hexadecanoyloxy-octadecanoate + H2O = 12-hydroxyoctadecanoate + hexadecanoate + H(+) (RHEA:52056)
- 12-(9Z-octadecenoyloxy)-octadecanoate + H2O = 12-hydroxyoctadecanoate + (9Z)-octadecenoate + H(+) (RHEA:52060)
- 13-(9Z-octadecenoyloxy)-octadecanoate + H2O = 13-hydroxy-octadecanoate + (9Z)-octadecenoate + H(+) (RHEA:52064)
- 9-(9Z-hexadecenoyloxy)-octadecanoate + H2O = (9Z)-hexadecenoate + 9-hydroxy-octadecanoate + H(+) (RHEA:52068)
- 12-(9Z-hexadecenoyloxy)-octadecanoate + H2O = 12-hydroxyoctadecanoate + (9Z)-hexadecenoate + H(+) (RHEA:52072)
- 13-(9Z-hexadecenoyloxy)-octadecanoate + H2O = 13-hydroxy-octadecanoate + (9Z)-hexadecenoate + H(+) (RHEA:52076)
- 12-octadecanoyloxy-octadecanoate + H2O = 12-hydroxyoctadecanoate + octadecanoate + H(+) (RHEA:52080)
- 13-octadecanoyloxy-octadecanoate + H2O = 13-hydroxy-octadecanoate + octadecanoate + H(+) (RHEA:52084)
- 5-(9Z-hexadecenoyloxy)-octadecanoate + H2O = 5-hydroxy-octadecanoate + (9Z)-hexadecenoate + H(+) (RHEA:52092)
- 9-octadecanoyloxy-octadecanoate + H2O = 9-hydroxy-octadecanoate + octadecanoate + H(+) (RHEA:52096)
UniProt features (28 total): topological domain 7, splice variant 7, transmembrane region 6, site 2, mutagenesis site 2, sequence conflict 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NVV5-F1 | 93.92 | 0.86 |
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 (2): 43 (important for catalytic activity); 134 (important for catalytic activity)
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 43 | loss of hydrolase activity. |
| 134 | loss of hydrolase activity. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 156 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, GOBP_FATTY_ACID_CATABOLIC_PROCESS, BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, MODULE_511, GOBP_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, TCF11_01, TGANTCA_AP1_C, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS, RYTTCCTG_ETS2_B
GO Biological Process (2): long-chain fatty acid catabolic process (GO:0042758), lipid metabolic process (GO:0006629)
GO Molecular Function (2): hydrolase activity (GO:0016787), protein binding (GO:0005515)
GO Cellular Component (3): plasma membrane (GO:0005886), endomembrane system (GO:0012505), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| long-chain fatty acid metabolic process | 1 |
| fatty acid catabolic process | 1 |
| primary metabolic process | 1 |
| catalytic activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
Protein interactions and networks
STRING
390 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| AIG1 | GIMAP2 | Q9UG22 | 589 |
| AIG1 | CPA5 | Q8WXQ8 | 586 |
| AIG1 | GIMAP7 | Q8NHV1 | 559 |
| AIG1 | GIMAP1 | Q8WWP7 | 533 |
| AIG1 | RCHY1 | Q96PM5 | 507 |
| AIG1 | GIMAP5 | Q96F15 | 494 |
| AIG1 | TESPA1 | A2RU30 | 450 |
| AIG1 | PMEPA1 | Q969W9 | 448 |
| AIG1 | RNF34 | Q969K3 | 442 |
| AIG1 | GIMAP4 | Q9NUV9 | 442 |
| AIG1 | HIVEP2 | P31629 | 441 |
| AIG1 | TP53 | P04637 | 437 |
| AIG1 | RBM33 | Q96EV2 | 435 |
| AIG1 | POU1F1 | P28069 | 408 |
| AIG1 | GIMAP6 | Q6P9H5 | 404 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RCHY1 | AIG1 | psi-mi:“MI:0915”(physical association) | 0.600 |
| AIG1 | RCHY1 | psi-mi:“MI:0403”(colocalization) | 0.600 |
| MEP1B | AIG1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| AIG1 | CCR9 | psi-mi:“MI:0915”(physical association) | 0.370 |
| AIG1 | FZD7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| AIG1 | GPR35 | psi-mi:“MI:0915”(physical association) | 0.370 |
| AIG1 | MC4R | psi-mi:“MI:0915”(physical association) | 0.370 |
| CSTL1 | DENND11 | psi-mi:“MI:0914”(association) | 0.350 |
| MAGEA8 | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| MGARP | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| GCGR | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| SLC19A2 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A4 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| SLC2A5 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC6A12 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC6A15 | EI24 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (70): AIG1 (PCA), AIG1 (Affinity Capture-MS), AIG1 (Two-hybrid), AIG1 (Affinity Capture-RNA), AIG1 (Two-hybrid), AIG1 (Two-hybrid), AIG1 (Two-hybrid), AIG1 (Two-hybrid), AIG1 (Two-hybrid), AIG1 (Two-hybrid), AIG1 (Two-hybrid), AIG1 (Two-hybrid), AIG1 (Two-hybrid), AIG1 (Two-hybrid), AIG1 (Two-hybrid)
ESM2 similar proteins: A0A1B0GVZ9, A4IFN5, A5PK40, A6NH52, A6NI61, B2LYG4, B2RZC9, B6ID01, D2HKB0, D3ZG27, P86229, Q0VDI3, Q15012, Q15546, Q17QJ2, Q1RLT2, Q2TA01, Q4R4I5, Q4R6E8, Q5H8A4, Q5R7Q1, Q5RAH0, Q5RL79, Q5U3C3, Q5VTY9, Q5ZML7, Q64232, Q6PHN7, Q6QRN8, Q719N3, Q71SV0, Q8BWB6, Q8IY49, Q8N6M3, Q8NFT2, Q8R189, Q8VD53, Q8VDI9, Q8VDR5, Q9CQC4
Diamond homologs: Q5M828, Q60534, Q8C138, Q96IZ2, Q9D8B1, Q9NVV5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
42 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 33 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2319 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:143061063:TCTG:T | donor_gain | 1.0000 |
| 6:143061063:TCTGG:T | donor_loss | 1.0000 |
| 6:143061064:CTGGT:C | donor_loss | 1.0000 |
| 6:143061065:TGGT:T | donor_loss | 1.0000 |
| 6:143061066:GGTAA:G | donor_loss | 1.0000 |
| 6:143061067:G:GG | donor_gain | 1.0000 |
| 6:143061067:GT:G | donor_loss | 1.0000 |
| 6:143136957:G:GT | donor_gain | 1.0000 |
| 6:143136965:C:G | donor_gain | 1.0000 |
| 6:143136986:GGGTT:G | donor_gain | 1.0000 |
| 6:143136987:GGTTG:G | donor_gain | 1.0000 |
| 6:143136988:GTT:G | donor_gain | 1.0000 |
| 6:143136991:G:GG | donor_gain | 1.0000 |
| 6:143165080:A:AG | acceptor_gain | 1.0000 |
| 6:143165080:AGTTT:A | acceptor_gain | 1.0000 |
| 6:143165081:G:GG | acceptor_gain | 1.0000 |
| 6:143165081:GTTT:G | acceptor_gain | 1.0000 |
| 6:143165081:GTTTG:G | acceptor_gain | 1.0000 |
| 6:143333268:C:A | acceptor_gain | 1.0000 |
| 6:143333441:GAAAA:G | donor_gain | 1.0000 |
| 6:143333442:AAAA:A | donor_gain | 1.0000 |
| 6:143333443:AAA:A | donor_gain | 1.0000 |
| 6:143333444:AA:A | donor_gain | 1.0000 |
| 6:143333444:AAG:A | donor_loss | 1.0000 |
| 6:143333446:G:GG | donor_gain | 1.0000 |
| 6:143333446:GTA:G | donor_loss | 1.0000 |
| 6:143333447:TAA:T | donor_loss | 1.0000 |
| 6:143339043:G:GT | donor_gain | 1.0000 |
| 6:143061062:ATCTG:A | donor_gain | 0.9900 |
| 6:143061064:CTG:C | donor_gain | 0.9900 |
AlphaMissense
1565 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:143061046:T:C | F41L | 1.000 |
| 6:143061048:C:A | F41L | 1.000 |
| 6:143061048:C:G | F41L | 1.000 |
| 6:143165097:T:C | F105L | 1.000 |
| 6:143165099:C:A | F105L | 1.000 |
| 6:143165099:C:G | F105L | 1.000 |
| 6:143165100:T:A | W106R | 1.000 |
| 6:143165100:T:C | W106R | 1.000 |
| 6:143061032:G:A | G36E | 0.999 |
| 6:143061040:T:A | W39R | 0.999 |
| 6:143061040:T:C | W39R | 0.999 |
| 6:143061065:T:C | L47P | 0.999 |
| 6:143136985:G:A | G98R | 0.999 |
| 6:143136985:G:C | G98R | 0.999 |
| 6:143136985:G:T | G98W | 0.999 |
| 6:143165131:T:A | I116K | 0.999 |
| 6:143165166:T:A | W128R | 0.999 |
| 6:143165166:T:C | W128R | 0.999 |
| 6:143284110:C:G | H134D | 0.999 |
| 6:143333313:T:A | W183R | 0.999 |
| 6:143333313:T:C | W183R | 0.999 |
| 6:143061047:T:C | F41S | 0.998 |
| 6:143061050:T:C | L42P | 0.998 |
| 6:143136853:T:C | F54L | 0.998 |
| 6:143136855:T:A | F54L | 0.998 |
| 6:143136855:T:G | F54L | 0.998 |
| 6:143136950:G:C | R86P | 0.998 |
| 6:143165097:T:A | F105I | 0.998 |
| 6:143165098:T:C | F105S | 0.998 |
| 6:143165122:G:T | R113I | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000000816 (6:143288462 C>T), RS1000008913 (6:143154915 T>G), RS1000038448 (6:143240562 C>T), RS1000042624 (6:143217507 A>G), RS1000056236 (6:143211167 A>AGAGT), RS1000060344 (6:143145704 T>C), RS1000062943 (6:143071656 C>A,G,T), RS1000065560 (6:143197109 A>G), RS1000065779 (6:143312993 A>G), RS1000070958 (6:143064940 T>C), RS1000102583 (6:143168304 C>T), RS1000112165 (6:143282141 A>C), RS1000119729 (6:143105456 T>C), RS1000119764 (6:143306545 T>C), RS1000121930 (6:143148805 C>G)
Disease associations
OMIM: gene MIM:608514 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001320_10 | Acute lymphoblastic leukemia (childhood) | 5.000000e-06 |
| GCST003518_87 | Daytime sleep phenotypes | 1.000000e-06 |
| GCST007096_155 | Pulse pressure | 7.000000e-15 |
| GCST007269_204 | Pulse pressure | 5.000000e-12 |
| GCST007436_3 | Carotid intima media thickness | 5.000000e-08 |
| GCST007637_43 | Diffusing capacity of carbon monoxide | 4.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007828 | daytime rest measurement |
| EFO:0005763 | pulse pressure measurement |
| EFO:0009369 | diffusing capacity of the lung for carbon monoxide |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PubChem BioAssay actives
2 with measured affinity, of 2 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 |
|---|---|---|---|---|
| (6Z)-6-(2-oxo-4-tridecyloxetan-3-ylidene)hexanamide | 1801987: Gel-based ABPP Assay from Article 10.1038/nchembio.2051: “AIG1 and ADTRP are atypical integral membrane hydrolases that degrade bioactive FAHFAs.” | ic50 | 0.1700 | uM |
| [7-[4-(dimethylamino)benzoyl]-1,3-dioxo-5,6,8,8a-tetrahydroimidazo[1,5-a]pyrazin-2-yl] 4-[2-(4-chlorophenyl)ethyl]piperidine-1-carboxylate | 1801987: Gel-based ABPP Assay from Article 10.1038/nchembio.2051: “AIG1 and ADTRP are atypical integral membrane hydrolases that degrade bioactive FAHFAs.” | ic50 | 0.5000 | uM |
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, increases expression, affects expression, affects cotreatment | 6 |
| Benzo(a)pyrene | affects methylation, decreases expression | 5 |
| Aflatoxin B1 | affects expression, decreases expression, decreases methylation | 3 |
| trichostatin A | affects cotreatment, decreases expression | 2 |
| Vehicle Emissions | decreases reaction, increases expression, increases abundance | 2 |
| Calcitriol | increases expression | 2 |
| Cisplatin | affects expression, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Particulate Matter | decreases reaction, increases expression, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| beta-methylcholine | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, decreases expression, affects cotreatment | 1 |
| ICG 001 | increases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases reaction, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression, decreases expression | 1 |
| bisphenol S | affects cotreatment, increases expression | 1 |
| NSC 689534 | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Dexamethasone | increases expression, affects cotreatment | 1 |
| Chlorpyrifos | decreases response to substance, decreases expression | 1 |
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): acute lymphoblastic leukemia