TMF1
gene geneOn this page
Also known as ARA160TMF
Summary
TMF1 (TATA element modulatory factor 1, HGNC:11870) is a protein-coding gene on chromosome 3p14.1, encoding TATA element modulatory factor (P82094). Potential coactivator of the androgen receptor.
Enables nuclear androgen receptor binding activity and transcription coactivator activity. Involved in androgen receptor signaling pathway and positive regulation of transcription by RNA polymerase II. Located in Golgi apparatus.
Source: NCBI Gene 7110 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 156 total — 1 pathogenic
- MANE Select transcript:
NM_007114
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11870 |
| Approved symbol | TMF1 |
| Name | TATA element modulatory factor 1 |
| Location | 3p14.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ARA160, TMF |
| Ensembl gene | ENSG00000144747 |
| Ensembl biotype | protein_coding |
| OMIM | 601126 |
| Entrez | 7110 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 10 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000398559, ENST00000477872, ENST00000488010, ENST00000489370, ENST00000645406, ENST00000646304, ENST00000646708, ENST00000936590, ENST00000948162, ENST00000948163, ENST00000948164, ENST00000948165, ENST00000948166, ENST00000948167
RefSeq mRNA: 2 — MANE Select: NM_007114
NM_001363879, NM_007114
CCDS: CCDS43105, CCDS87105
Canonical transcript exons
ENST00000398559 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000966895 | 69047358 | 69048562 |
| ENSE00000966896 | 69044492 | 69044595 |
| ENSE00000966897 | 69043750 | 69043876 |
| ENSE00000966898 | 69042807 | 69042912 |
| ENSE00000966899 | 69039551 | 69039693 |
| ENSE00000966900 | 69038843 | 69039009 |
| ENSE00000966901 | 69038564 | 69038720 |
| ENSE00000966902 | 69035023 | 69035115 |
| ENSE00000966903 | 69033548 | 69033704 |
| ENSE00000966904 | 69029815 | 69030007 |
| ENSE00001909854 | 69019827 | 69023320 |
| ENSE00003479250 | 69028226 | 69028295 |
| ENSE00003625724 | 69027900 | 69027992 |
| ENSE00003651633 | 69025560 | 69025712 |
| ENSE00003659887 | 69024055 | 69024180 |
| ENSE00003687972 | 69025996 | 69026097 |
| ENSE00003828424 | 69051945 | 69052333 |
Expression profiles
Bgee: expression breadth ubiquitous, 279 present calls, max score 96.45.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.9931 / max 259.0913, expressed in 1818 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 42952 | 19.5806 | 1813 |
| 42953 | 5.2416 | 1660 |
| 42951 | 2.9322 | 1462 |
| 42954 | 0.7183 | 441 |
| 42949 | 0.2788 | 92 |
| 42950 | 0.2417 | 79 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 96.45 | gold quality |
| stromal cell of endometrium | CL:0002255 | 93.55 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 92.92 | gold quality |
| caput epididymis | UBERON:0004358 | 92.87 | gold quality |
| adrenal tissue | UBERON:0018303 | 91.95 | gold quality |
| islet of Langerhans | UBERON:0000006 | 91.89 | gold quality |
| bronchial epithelial cell | CL:0002328 | 91.51 | gold quality |
| right uterine tube | UBERON:0001302 | 91.13 | gold quality |
| corpus epididymis | UBERON:0004359 | 90.98 | gold quality |
| rectum | UBERON:0001052 | 90.93 | gold quality |
| body of pancreas | UBERON:0001150 | 90.80 | gold quality |
| left testis | UBERON:0004533 | 90.74 | gold quality |
| minor salivary gland | UBERON:0001830 | 90.45 | gold quality |
| pancreas | UBERON:0001264 | 90.37 | gold quality |
| endometrium | UBERON:0001295 | 89.83 | gold quality |
| monocyte | CL:0000576 | 89.61 | gold quality |
| right testis | UBERON:0004534 | 89.61 | gold quality |
| cauda epididymis | UBERON:0004360 | 89.21 | gold quality |
| testis | UBERON:0000473 | 89.19 | gold quality |
| mononuclear cell | CL:0000842 | 89.17 | gold quality |
| leukocyte | CL:0000738 | 89.06 | gold quality |
| right lung | UBERON:0002167 | 89.04 | gold quality |
| tibia | UBERON:0000979 | 89.01 | gold quality |
| gall bladder | UBERON:0002110 | 89.01 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 88.95 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 88.72 | gold quality |
| left ovary | UBERON:0002119 | 88.61 | gold quality |
| right ovary | UBERON:0002118 | 88.43 | gold quality |
| mouth mucosa | UBERON:0003729 | 88.43 | gold quality |
| adenohypophysis | UBERON:0002196 | 88.41 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| AR | Activation |
miRNA regulators (miRDB)
230 targeting TMF1, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
Literature-anchored findings (GeneRIF, showing 5)
- These observations suggest critical roles for TMF in two Rab6-dependent retrograde transport processes: one from endosomes to the Golgi and the other from the Golgi to the endoplasmic reticulum. (PMID:17698061)
- Overexpression of TMF/ARA160 downregulates proangiogenic genes and attenuates the progression of prostate cancer xenografts. (PMID:19330832)
- COG complex interacts with two different Rabs in addition to each end of the golgin “TATA element modulatory factor” (TMF). (PMID:23239882)
- In patient with chronic granulomatous disease, a 5.8-kb, incomplete and partly exonized TMF1 transcript was identified in intron 1 of CYBB, in opposite orientation to the host gene. (PMID:24478191)
- In the nucleus, PDGFRbeta formed ligand-inducible complexes with the tyrosine kinase Fer and its substrate, TATA element-modifying factor 1 (TMF-1). (PMID:29545370)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tmf1 | ENSDARG00000057997 |
| mus_musculus | Tmf1 | ENSMUSG00000030059 |
| rattus_norvegicus | Tmf1 | ENSRNOG00000056462 |
Paralogs (44): MYH13 (ENSG00000006788), MYO16 (ENSG00000041515), MYO9A (ENSG00000066933), MYO3B (ENSG00000071909), MYH7B (ENSG00000078814), MYO15A (ENSG00000091536), MYH7 (ENSG00000092054), MYO3A (ENSG00000095777), MYO9B (ENSG00000099331), MYH9 (ENSG00000100345), MYH14 (ENSG00000105357), MYH1 (ENSG00000109061), MYH3 (ENSG00000109063), MYH2 (ENSG00000125414), MYO1B (ENSG00000128641), MYO5C (ENSG00000128833), CGNL1 (ENSG00000128849), MYH8 (ENSG00000133020), MYH10 (ENSG00000133026), MYH11 (ENSG00000133392), MYO18B (ENSG00000133454), CCDC102A (ENSG00000135736), MYO1G (ENSG00000136286), MYO7A (ENSG00000137474), MYO1F (ENSG00000142347), CGN (ENSG00000143375), MYH15 (ENSG00000144821), MYO10 (ENSG00000145555), CCDC102B (ENSG00000150636), MYO1E (ENSG00000157483), CCDC158 (ENSG00000163749), MYO1A (ENSG00000166866), MYO5B (ENSG00000167306), MYO7B (ENSG00000169994), MYO1H (ENSG00000174527), MYO1D (ENSG00000176658), MYO18A (ENSG00000196535), MYO6 (ENSG00000196586), MYO5A (ENSG00000197535), MYH6 (ENSG00000197616)
Protein
Protein identifiers
TATA element modulatory factor — P82094 (reviewed: P82094)
Alternative names: Androgen receptor coactivator 160 kDa protein, Androgen receptor-associated protein of 160 kDa
All UniProt accessions (3): P82094, A0A2R8Y7M0, F8WF45
UniProt curated annotations — full annotation on UniProt →
Function. Potential coactivator of the androgen receptor. Mediates STAT3 degradation. May play critical roles in two RAB6-dependent retrograde transport processes: one from endosomes to the Golgi and the other from the Golgi to the ER. This protein binds the HIV-1 TATA element and inhibits transcriptional activation by the TATA-binding protein (TBP).
Subunit / interactions. Interacts with TRNP1; may regulate TRNP1 proteasomal degradation. Component of the SNF/SWI transcription factor complexes. Interacts with RAB6A. Interacts with STAT3 and FER. Interacts with TCEB1.
Subcellular location. Cytoplasm. Nucleus. Golgi apparatus membrane.
Post-translational modifications. Phosphorylated by FER.
Domain organisation. The Elongin BC complex binding domain is also known as BC-box with the consensus [APST]-L-x(3)-C-x(3)-[AILV].
Induction. Down-regulated in malignant brain tumors.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P82094-1 | 1 | yes |
| P82094-2 | 2 |
RefSeq proteins (2): NP_001350808, NP_009045* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR022091 | TMF_TATA-bd | Domain |
| IPR022092 | TMF_DNA-bd | Family |
| IPR052602 | Growth_transcription_reg | Family |
Pfam: PF12325, PF12329
UniProt features (39 total): modified residue 17, compositionally biased region 7, region of interest 6, sequence variant 4, coiled-coil region 2, chain 1, splice variant 1, mutagenesis site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P82094-F1 | 66.05 | 0.38 |
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 (17): 72, 77, 112, 136, 199, 217, 328, 330, 333, 338, 344, 413, 542, 925, 928, 929, 933
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 333–335 | strongly reduced the ubiquitination directing activity of the protein. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6811440 | Retrograde transport at the Trans-Golgi-Network |
MSigDB gene sets: 258 (showing top):
MODULE_416, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_VESICLE_ORGANIZATION, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, BROWNE_HCMV_INFECTION_16HR_UP, GOBP_MALE_GAMETE_GENERATION, REACTOME_MEMBRANE_TRAFFICKING, CAGCTG_AP4_Q5, GOBP_POSITIVE_REGULATION_OF_LIPID_TRANSPORT, GOBP_CELL_CELL_SIGNALING, GOBP_ORGANIC_HYDROXY_COMPOUND_TRANSPORT
GO Biological Process (17): acrosome assembly (GO:0001675), positive regulation of cytokine production (GO:0001819), spermatid nucleus differentiation (GO:0007289), negative regulation of gene expression (GO:0010629), flagellated sperm motility (GO:0030317), androgen receptor signaling pathway (GO:0030521), luteinizing hormone secretion (GO:0032275), Leydig cell differentiation (GO:0033327), defense response to bacterium (GO:0042742), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of proteasomal protein catabolic process (GO:0061136), epithelial cell apoptotic process (GO:1904019), negative regulation of epithelial cell apoptotic process (GO:1904036), positive regulation of testosterone secretion (GO:2000845), apoptotic process (GO:0006915), spermatid development (GO:0007286), male gonad development (GO:0008584)
GO Molecular Function (4): DNA binding (GO:0003677), transcription coactivator activity (GO:0003713), nuclear androgen receptor binding (GO:0050681), protein binding (GO:0005515)
GO Cellular Component (7): Golgi membrane (GO:0000139), nucleus (GO:0005634), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), cytosol (GO:0005829), cytoplasm (GO:0005737), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Intra-Golgi and retrograde Golgi-to-ER traffic | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular membrane-bounded organelle | 3 |
| cytoplasm | 3 |
| cellular anatomical structure | 3 |
| developmental process involved in reproduction | 2 |
| spermatid development | 2 |
| positive regulation of DNA-templated transcription | 2 |
| endomembrane system | 2 |
| cellular component assembly involved in morphogenesis | 1 |
| cellular process involved in reproduction in multicellular organism | 1 |
| secretory granule organization | 1 |
| organelle assembly | 1 |
| cytokine production | 1 |
| regulation of cytokine production | 1 |
| positive regulation of gene expression | 1 |
| positive regulation of multicellular organismal process | 1 |
| nucleus organization | 1 |
| gene expression | 1 |
| regulation of gene expression | 1 |
| negative regulation of macromolecule biosynthetic process | 1 |
| cilium-dependent cell motility | 1 |
| cilium movement involved in cell motility | 1 |
| sperm motility | 1 |
| nuclear receptor-mediated steroid hormone signaling pathway | 1 |
| gonadotropin secretion | 1 |
| male gonad development | 1 |
| cell differentiation | 1 |
| defense response | 1 |
| response to bacterium | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| proteasomal protein catabolic process | 1 |
| regulation of protein catabolic process | 1 |
| apoptotic process | 1 |
| negative regulation of apoptotic process | 1 |
| epithelial cell apoptotic process | 1 |
| regulation of epithelial cell apoptotic process | 1 |
| positive regulation of lipid transport | 1 |
| testosterone secretion | 1 |
| positive regulation of hormone secretion | 1 |
| regulation of testosterone secretion | 1 |
Protein interactions and networks
STRING
1232 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMF1 | RAB6A | P20340 | 846 |
| TMF1 | ANKAR | Q7Z5J8 | 820 |
| TMF1 | OSGEPL1 | Q9H4B0 | 669 |
| TMF1 | RAB6B | Q9NRW1 | 657 |
| TMF1 | GOLGA5 | Q8TBA6 | 546 |
| TMF1 | ZFPL1 | O95159 | 538 |
| TMF1 | USO1 | O60763 | 532 |
| TMF1 | RNF14 | Q9UBS8 | 506 |
| TMF1 | TBP | P20226 | 482 |
| TMF1 | STT3A | P46977 | 478 |
| TMF1 | GCC1 | Q96CN9 | 473 |
| TMF1 | NFATC2 | Q13469 | 470 |
| TMF1 | RUNDC1 | Q96C34 | 451 |
| TMF1 | GCC2 | Q8IWJ2 | 447 |
| TMF1 | BLZF1 | Q9H2G9 | 444 |
IntAct
51 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PLK1 | SPAG9 | psi-mi:“MI:0914”(association) | 0.790 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| FOXK2 | DVL2 | psi-mi:“MI:0914”(association) | 0.640 |
| TMF1 | CMTM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLK1 | C1orf226 | psi-mi:“MI:0914”(association) | 0.560 |
| KXD1 | HIP1 | psi-mi:“MI:0914”(association) | 0.530 |
| BAG2 | HGS | psi-mi:“MI:0914”(association) | 0.530 |
| CBFA2T3 | CBFA2T2 | psi-mi:“MI:0914”(association) | 0.530 |
| KXD1 | TRAK2 | psi-mi:“MI:0914”(association) | 0.530 |
| TMF1 | NR3C1 | psi-mi:“MI:0915”(physical association) | 0.520 |
| NR3C1 | TMF1 | psi-mi:“MI:0915”(physical association) | 0.520 |
| TMF1 | CEBPZ | psi-mi:“MI:0915”(physical association) | 0.400 |
| TMF1 | E2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TMF1 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| TMF1 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| TFAP2C | TMF1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| USP7 | STIL | psi-mi:“MI:0914”(association) | 0.350 |
| PDHA1 | psi-mi:“MI:0914”(association) | 0.350 | |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PLK1 | ERCC6L | psi-mi:“MI:0914”(association) | 0.350 |
| TNFRSF10A | psi-mi:“MI:0914”(association) | 0.350 | |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| AP1M2 | AP1G1 | psi-mi:“MI:0914”(association) | 0.350 |
| BSPRY | SRGAP2 | psi-mi:“MI:0914”(association) | 0.350 |
| CCDC183 | PCNT | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (132): TMF1 (Affinity Capture-MS), TMF1 (Affinity Capture-MS), TMF1 (Affinity Capture-MS), TMF1 (Two-hybrid), TMF1 (Proximity Label-MS), TMF1 (Affinity Capture-MS), TMF1 (Affinity Capture-MS), TMF1 (Proximity Label-MS), TMF1 (Affinity Capture-MS), TMF1 (Affinity Capture-MS), TMF1 (Affinity Capture-MS), TMF1 (Affinity Capture-MS), TMF1 (Affinity Capture-MS), TMF1 (Affinity Capture-MS), TMF1 (Affinity Capture-MS)
ESM2 similar proteins: A0MZ66, A0MZ67, A6PWD2, A7MD70, B3DLE8, B9EKI3, F7DP49, O35550, O35551, O45420, P82094, Q05D60, Q08DR9, Q15276, Q28IH8, Q3KR99, Q3UIJ9, Q4L180, Q4R7H3, Q4V7C8, Q53EZ4, Q5BIX7, Q5R923, Q5RA03, Q5RI56, Q5U3Z6, Q6NRC9, Q6NRW2, Q6P0R8, Q6P402, Q6P6L0, Q7YS99, Q7Z7B0, Q861Q8, Q8BT07, Q8BVC4, Q8K2Q9, Q8K3K8, Q8K4T4, Q8R5M4
Diamond homologs: B9EKI3, P82094
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
156 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 121 |
| Likely benign | 10 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1064533 | Single allele | Pathogenic |
SpliceAI
2591 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:69023321:CTGAA:C | acceptor_loss | 1.0000 |
| 3:69024053:A:AC | donor_gain | 1.0000 |
| 3:69024054:C:CC | donor_gain | 1.0000 |
| 3:69025583:C:A | donor_gain | 1.0000 |
| 3:69025589:G:C | donor_gain | 1.0000 |
| 3:69025595:G:C | donor_gain | 1.0000 |
| 3:69027894:CAATA:C | donor_loss | 1.0000 |
| 3:69027895:AATAC:A | donor_loss | 1.0000 |
| 3:69027896:ATACC:A | donor_loss | 1.0000 |
| 3:69027897:TA:T | donor_loss | 1.0000 |
| 3:69027898:A:AT | donor_loss | 1.0000 |
| 3:69027899:C:CA | donor_loss | 1.0000 |
| 3:69027990:TGT:T | acceptor_gain | 1.0000 |
| 3:69027991:GT:G | acceptor_gain | 1.0000 |
| 3:69027993:C:CC | acceptor_gain | 1.0000 |
| 3:69028221:AATAC:A | donor_loss | 1.0000 |
| 3:69028222:ATAC:A | donor_loss | 1.0000 |
| 3:69028223:TA:T | donor_loss | 1.0000 |
| 3:69028224:ACCTT:A | donor_loss | 1.0000 |
| 3:69028225:C:T | donor_loss | 1.0000 |
| 3:69028234:T:A | donor_gain | 1.0000 |
| 3:69035021:ACCT:A | donor_loss | 1.0000 |
| 3:69035022:CCTG:C | donor_gain | 1.0000 |
| 3:69035111:CCCAC:C | acceptor_gain | 1.0000 |
| 3:69035112:CCAC:C | acceptor_gain | 1.0000 |
| 3:69035112:CCACC:C | acceptor_gain | 1.0000 |
| 3:69035113:CAC:C | acceptor_gain | 1.0000 |
| 3:69035113:CACC:C | acceptor_gain | 1.0000 |
| 3:69035114:AC:A | acceptor_gain | 1.0000 |
| 3:69035115:CC:C | acceptor_gain | 1.0000 |
AlphaMissense
7208 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:69023292:A:G | L1056P | 1.000 |
| 3:69052049:G:T | A13D | 1.000 |
| 3:69023241:A:G | L1073P | 0.999 |
| 3:69023253:A:G | L1069P | 0.999 |
| 3:69023272:C:G | A1063P | 0.999 |
| 3:69024131:A:G | L1021P | 0.999 |
| 3:69025594:A:G | L993P | 0.999 |
| 3:69025606:A:G | L989P | 0.999 |
| 3:69033562:A:G | L796P | 0.999 |
| 3:69033611:C:G | A780P | 0.999 |
| 3:69033628:T:G | Q774P | 0.999 |
| 3:69033631:C:G | R773P | 0.999 |
| 3:69033634:A:G | L772P | 0.999 |
| 3:69033682:C:G | R756P | 0.999 |
| 3:69033692:C:G | A753P | 0.999 |
| 3:69033700:A:G | L750P | 0.999 |
| 3:69035030:A:G | L746P | 0.999 |
| 3:69035105:A:G | L721P | 0.999 |
| 3:69052004:A:G | L28P | 0.999 |
| 3:69052016:A:T | I24N | 0.999 |
| 3:69052028:G:T | A20D | 0.999 |
| 3:69023263:C:G | A1066P | 0.998 |
| 3:69024059:A:G | L1045P | 0.998 |
| 3:69024141:C:G | A1018P | 0.998 |
| 3:69024152:C:G | R1014P | 0.998 |
| 3:69024164:A:G | L1010P | 0.998 |
| 3:69033670:A:G | L760P | 0.998 |
| 3:69038858:A:G | L660P | 0.998 |
| 3:69039684:A:G | L565P | 0.998 |
| 3:69052016:A:C | I24S | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000072943 (3:69051602 G>A,C,T), RS1000073728 (3:69046871 T>C), RS1000091140 (3:69029091 T>G), RS1000126432 (3:69051972 C>A,T), RS1000298310 (3:69039120 A>C,G), RS1000304409 (3:69029116 C>G,T), RS1000518845 (3:69035461 T>G), RS1000532619 (3:69041691 T>C), RS1000572378 (3:69021684 TG>T), RS1000704217 (3:69027589 A>T), RS1000950227 (3:69044046 T>C), RS1001132029 (3:69050572 T>C), RS1001163345 (3:69021045 C>A,T), RS1001301128 (3:69037919 G>A), RS1001360199 (3:69044391 A>C,G)
Disease associations
OMIM: gene MIM:601126 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009391_1084 | Metabolite levels | 2.000000e-06 |
| GCST010143_29 | Meat-related diet | 5.000000e-09 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010543 | uridine diphosphate galactose measurement |
| EFO:0010544 | uridine diphosphate glucose measurement |
| EFO:0008111 | diet measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
47 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| methylmercuric chloride | decreases expression, increases expression | 1 |
| bisphenol A | increases methylation | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium bichromate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| jinfukang | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Clorgyline | increases expression | 1 |
| Demecolcine | increases expression | 1 |
| Enzyme Inhibitors | increases O-linked glycosylation, decreases activity | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Lead | affects expression | 1 |
| Mercury | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Phenobarbital | affects expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.