RUSC1
geneOn this page
Also known as NESCA
Summary
RUSC1 (RUN and SH3 domain containing 1, HGNC:17153) is a protein-coding gene on chromosome 1q22, encoding AP-4 complex accessory subunit RUSC1 (Q9BVN2). Associates with the adapter-like complex 4 (AP-4) and may therefore play a role in vesicular trafficking of proteins at the trans-Golgi network.
Predicted to enable actin binding activity. Involved in protein polyubiquitination. Located in cytosol.
Source: NCBI Gene 23623 — RefSeq curated summary.
At a glance
- GWAS associations: 16
- Clinical variants (ClinVar): 61 total
- MANE Select transcript:
NM_001105203
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17153 |
| Approved symbol | RUSC1 |
| Name | RUN and SH3 domain containing 1 |
| Location | 1q22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NESCA |
| Ensembl gene | ENSG00000160753 |
| Ensembl biotype | protein_coding |
| OMIM | 617318 |
| Entrez | 23623 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 18 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay
ENST00000292254, ENST00000368347, ENST00000368349, ENST00000368352, ENST00000368354, ENST00000462780, ENST00000467820, ENST00000468764, ENST00000471876, ENST00000473331, ENST00000479924, ENST00000485924, ENST00000489860, ENST00000490373, ENST00000492536, ENST00000497930, ENST00000696599, ENST00000878373, ENST00000878374, ENST00000878375, ENST00000878376, ENST00000878377, ENST00000925571, ENST00000955292
RefSeq mRNA: 8 — MANE Select: NM_001105203
NM_001105203, NM_001105204, NM_001105205, NM_001278227, NM_001278228, NM_001278229, NM_001278230, NM_014328
CCDS: CCDS1112, CCDS41410, CCDS41411, CCDS41412
Canonical transcript exons
ENST00000368352 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001910161 | 155326580 | 155327132 |
| ENSE00003472217 | 155325864 | 155325910 |
| ENSE00003563846 | 155324845 | 155324943 |
| ENSE00003589081 | 155325316 | 155325490 |
| ENSE00003621075 | 155325567 | 155325672 |
| ENSE00003634623 | 155325102 | 155325178 |
| ENSE00003967800 | 155321688 | 155323130 |
| ENSE00003967804 | 155330403 | 155331114 |
| ENSE00003967807 | 155328150 | 155328275 |
| ENSE00003967810 | 155320894 | 155320991 |
Expression profiles
Bgee: expression breadth ubiquitous, 284 present calls, max score 97.25.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.3061 / max 1222.7925, expressed in 1810 samples.
FANTOM5 promoters (17 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 5617 | 19.1674 | 1760 |
| 5603 | 4.9686 | 863 |
| 5610 | 1.3385 | 936 |
| 5619 | 0.9410 | 523 |
| 5611 | 0.8778 | 412 |
| 5608 | 0.4515 | 255 |
| 5602 | 0.3320 | 114 |
| 5609 | 0.2927 | 95 |
| 5618 | 0.1787 | 73 |
| 5614 | 0.1680 | 32 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 97.25 | gold quality |
| cortical plate | UBERON:0005343 | 96.98 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 96.89 | gold quality |
| cerebellar cortex | UBERON:0002129 | 96.82 | gold quality |
| cerebellum | UBERON:0002037 | 96.18 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 95.74 | gold quality |
| right frontal lobe | UBERON:0002810 | 95.50 | gold quality |
| ganglionic eminence | UBERON:0004023 | 94.64 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 94.44 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 94.36 | gold quality |
| ileal mucosa | UBERON:0000331 | 94.18 | gold quality |
| prefrontal cortex | UBERON:0000451 | 94.07 | gold quality |
| frontal cortex | UBERON:0001870 | 93.82 | gold quality |
| neocortex | UBERON:0001950 | 93.67 | gold quality |
| paraflocculus | UBERON:0005351 | 93.60 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 93.53 | gold quality |
| right coronary artery | UBERON:0001625 | 93.42 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 93.41 | gold quality |
| cingulate cortex | UBERON:0003027 | 93.33 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 93.31 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 93.26 | gold quality |
| thoracic aorta | UBERON:0001515 | 93.25 | gold quality |
| ascending aorta | UBERON:0001496 | 93.24 | gold quality |
| frontal pole | UBERON:0002795 | 93.13 | gold quality |
| adenohypophysis | UBERON:0002196 | 93.09 | gold quality |
| esophagus mucosa | UBERON:0002469 | 93.06 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 93.05 | gold quality |
| transverse colon | UBERON:0001157 | 93.00 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 92.96 | gold quality |
| hypothalamus | UBERON:0001898 | 92.88 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.07 |
| E-GEOD-100618 | no | 646.13 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
63 targeting RUSC1, 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-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-3913-5P | 99.78 | 67.26 | 968 |
| HSA-MIR-623 | 99.76 | 68.16 | 1170 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
| HSA-MIR-2116-3P | 99.74 | 64.32 | 889 |
Literature-anchored findings (GeneRIF, showing 6)
- Data show that NESCA and NEMO interact by their N-terminal region, that NESCA directly associates with TRAF6, which in turn catalyzes NESCA polyubiquitination, and that NESCA overexpression strongly inhibits TRAF6-mediated polyubiquitination of NEMO. (PMID:19365808)
- Nesca functions as an adapter involved in neuronal vesicular transport (PMID:22404429)
- RUN domain of NESCA can bind H-Ras, a downstream signaling molecule of TrkA, with high affinity. Moreover, NESCA RUN can directly interact with TrkA. (PMID:22821014)
- AP-4 deficiency causes missorting of ATG9A in diverse cell types, including patient-derived cells, as well as dysregulation of autophagy. (PMID:30262884)
- The present study demonstrated that lncRNA RUSC1ASN promoted cell viability and metastasis via Wnt/betacatenin signaling in human breast cancer. (PMID:30569097)
- LncRNA RUSC1-AS1 promotes osteosarcoma progression through regulating the miR-340-5p and PI3K/AKT pathway. (PMID:34048366)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rusc1 | ENSDARG00000078125 |
| mus_musculus | Rusc1 | ENSMUSG00000041263 |
| rattus_norvegicus | Fdps | ENSRNOG00000043377 |
Paralogs (1): RUSC2 (ENSG00000198853)
Protein
Protein identifiers
AP-4 complex accessory subunit RUSC1 — Q9BVN2 (reviewed: Q9BVN2)
Alternative names: New molecule containing SH3 at the carboxy-terminus, RUN and SH3 domain-containing protein 1
All UniProt accessions (9): Q9BVN2, A0A087WVK5, A0A087WW20, A0A087WX95, A0A087WYB2, A0A087WYU8, A0A087WZ68, A0A8Q3SIT1, Q68CX2
UniProt curated annotations — full annotation on UniProt →
Function. Associates with the adapter-like complex 4 (AP-4) and may therefore play a role in vesicular trafficking of proteins at the trans-Golgi network. Signaling adapter which plays a role in neuronal differentiation. Involved in regulation of NGF-dependent neurite outgrowth. May play a role in neuronal vesicular trafficking, specifically involving pre-synaptic membrane proteins. Seems to be involved in signaling pathways that are regulated by the prolonged activation of MAPK. Can regulate the polyubiquitination of IKBKG and thus may be involved in regulation of the NF-kappa-B pathway.
Subunit / interactions. Associated component of the adapter-like complex 4 (AP-4). Interacts with IKBKG and TRAF6. Interacts with F-actin, acetylated actin, TUBB3, STX1A, KIF5B and KLC1.
Subcellular location. Cytoplasm. Nucleus. Cytoskeleton. Cytoplasmic vesicle. Early endosome. Postsynaptic density. Golgi apparatus.
Tissue specificity. Predominantly expressed in brain.
Post-translational modifications. Phosphorylated on serine residues following nuclear translocation. Polyubiquitinated; polyubiquitination involves TRAF6.
Domain organisation. The RUN domain is necessary for NGF induced nuclear redistribution.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BVN2-1 | 1 | yes |
| Q9BVN2-2 | 2 | |
| Q9BVN2-3 | 3 | |
| Q9BVN2-4 | 4 |
RefSeq proteins (8): NP_001098673, NP_001098674, NP_001098675, NP_001265156, NP_001265157, NP_001265158, NP_001265159, NP_055143 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001452 | SH3_domain | Domain |
| IPR004012 | Run_dom | Domain |
| IPR036028 | SH3-like_dom_sf | Homologous_superfamily |
| IPR037213 | Run_dom_sf | Homologous_superfamily |
| IPR047341 | RUN_RUSC1 | Domain |
| IPR047343 | RUSC1_2 | Family |
Pfam: PF02759, PF14604
UniProt features (48 total): helix 12, region of interest 8, compositionally biased region 7, sequence conflict 7, splice variant 3, turn 3, domain 2, sequence variant 2, strand 2, chain 1, mutagenesis site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4GIW | X-RAY DIFFRACTION | 2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BVN2-F1 | 54.04 | 0.19 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 531 | abrogates nuclear redistribution. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 158 (showing top):
ATF_B, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, CREBP1_Q2, USF_C, PATIL_LIVER_CANCER, CREB_Q4, E4F1_Q6, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, ATF3_Q6, chr1q22, GOMF_ACTIN_BINDING, BASAKI_YBX1_TARGETS_UP, DOUGLAS_BMI1_TARGETS_UP
GO Biological Process (1): protein polyubiquitination (GO:0000209)
GO Molecular Function (2): actin binding (GO:0003779), protein binding (GO:0005515)
GO Cellular Component (12): nucleus (GO:0005634), early endosome (GO:0005769), Golgi apparatus (GO:0005794), cytosol (GO:0005829), microtubule (GO:0005874), postsynaptic density (GO:0014069), microtubule cytoskeleton (GO:0015630), cytoplasmic vesicle (GO:0031410), cytoplasm (GO:0005737), endosome (GO:0005768), cytoskeleton (GO:0005856), synapse (GO:0045202)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 3 |
| intracellular membrane-bounded organelle | 2 |
| endomembrane system | 2 |
| cellular anatomical structure | 2 |
| protein ubiquitination | 1 |
| cytoskeletal protein binding | 1 |
| binding | 1 |
| endosome | 1 |
| microtubule cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| asymmetric synapse | 1 |
| postsynaptic specialization | 1 |
| cytoskeleton | 1 |
| intracellular vesicle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasmic vesicle | 1 |
| intracellular membraneless organelle | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
1714 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RUSC1 | RUNDC3A | Q59EK9 | 793 |
| RUSC1 | SERINC1 | Q9NRX5 | 594 |
| RUSC1 | AP4E1 | Q9UPM8 | 521 |
| RUSC1 | ATG9A | Q7Z3C6 | 519 |
| RUSC1 | SERINC3 | Q13530 | 516 |
| RUSC1 | RUFY1 | Q96T51 | 473 |
| RUSC1 | CREBL2 | O60519 | 456 |
| RUSC1 | AP4S1 | Q9Y587 | 430 |
| RUSC1 | RUBCN | Q92622 | 426 |
| RUSC1 | ACBD4 | Q8NC06 | 421 |
| RUSC1 | KREMEN2 | Q8NCW0 | 419 |
| RUSC1 | RUFY3 | Q7L099 | 419 |
| RUSC1 | TEPSIN | Q96N21 | 417 |
| RUSC1 | METRN | Q9UJH8 | 415 |
| RUSC1 | APBA2 | Q99767 | 407 |
IntAct
305 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PNMA1 | RUSC1 | psi-mi:“MI:0915”(physical association) | 0.790 |
| RUSC1 | PNMA1 | psi-mi:“MI:0915”(physical association) | 0.790 |
| RUSC1 | FAM9B | psi-mi:“MI:0915”(physical association) | 0.670 |
| RBPMS | RUSC1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| RUSC1 | RBPMS | psi-mi:“MI:0915”(physical association) | 0.670 |
| FAM9B | RUSC1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| NUDT22 | RUSC1 | psi-mi:“MI:0915”(physical association) | 0.600 |
| WWP2 | RUSC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STUB1 | RUSC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RUSC1 | STUB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RUSC1 | ZNF620 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TBC1D25 | RUSC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAGEA3 | RUSC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAGEA6 | RUSC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CTAG1A | RUSC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RBPMS | RUSC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EXOSC8 | RUSC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (108): RUSC1 (Two-hybrid), RUSC1 (Two-hybrid), RUSC1 (Two-hybrid), RUSC1 (Two-hybrid), FAM9B (Two-hybrid), RUSC1 (Two-hybrid), RUSC1 (Affinity Capture-MS), RUSC1 (Affinity Capture-MS), RUSC1 (Affinity Capture-MS), RUSC1 (Affinity Capture-MS), RUSC1 (Affinity Capture-MS), RUSC1 (Affinity Capture-RNA), RUSC1 (Affinity Capture-MS), RUSC1 (Two-hybrid), RUSC1 (Two-hybrid)
ESM2 similar proteins: A0A1B0GUS0, A0A5F9ZHS7, A7E346, A7MB34, A8MZG2, B2RU40, D4A9R4, O08574, O75593, P0C1Z6, P0CG20, Q0VG99, Q0ZCJ7, Q17QH7, Q29RM2, Q2KIS6, Q2M2S6, Q2M3G4, Q2NL68, Q32LE6, Q3U1J1, Q5JXC2, Q5R815, Q5SW24, Q61660, Q63247, Q6NZ36, Q6PBC9, Q6ZN01, Q6ZRI6, Q7TN08, Q7Z591, Q80VF6, Q86WR7, Q8BG26, Q8BP99, Q8BXQ8, Q8IYS4, Q8N9Y4, Q8NAV2
Diamond homologs: A4FU49, A5D7F8, A5D8S5, A6QLK6, A7E3N7, B1V8A0, D3ZG83, E2RP94, E7F1U2, F1LRS8, G5EC32, M0R4F8, O35413, O35964, O42287, O42854, O43586, O60504, O70145, O89100, O94875, P0CR78, P0CR79, P10569, P19878, P34258, P38753, P62484, P97306, Q07840, Q09822, Q10199, Q13588, Q15811, Q28E95, Q2KJA1, Q3B7M5, Q3UTJ2, Q4R729, Q5HYK7
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TRAF6 | “down-regulates quantity by destabilization” | RUSC1 | polyubiquitination |
| RUSC1 | “up-regulates quantity by stabilization” | IKBKG | |
| RUSC1 | up-regulates | Neurite_outgrowth | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
61 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 46 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1052 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:155325389:A:AG | acceptor_gain | 1.0000 |
| 1:155325389:AC:A | acceptor_gain | 1.0000 |
| 1:155325390:C:CA | acceptor_gain | 1.0000 |
| 1:155325395:T:TA | acceptor_gain | 1.0000 |
| 1:155325486:GCCAG:G | donor_gain | 1.0000 |
| 1:155325487:CCAGG:C | donor_loss | 1.0000 |
| 1:155325488:CAGGT:C | donor_loss | 1.0000 |
| 1:155325489:AGGT:A | donor_loss | 1.0000 |
| 1:155325491:GT:G | donor_loss | 1.0000 |
| 1:155325901:G:GT | donor_gain | 1.0000 |
| 1:155328144:TTTTA:T | acceptor_loss | 1.0000 |
| 1:155328145:TTTA:T | acceptor_loss | 1.0000 |
| 1:155328147:TA:T | acceptor_loss | 1.0000 |
| 1:155328147:TAGGA:T | acceptor_gain | 1.0000 |
| 1:155328148:A:AC | acceptor_loss | 1.0000 |
| 1:155328148:A:AG | acceptor_gain | 1.0000 |
| 1:155328148:AG:A | acceptor_gain | 1.0000 |
| 1:155328148:AGGAG:A | acceptor_gain | 1.0000 |
| 1:155328149:G:GA | acceptor_loss | 1.0000 |
| 1:155328149:G:GG | acceptor_gain | 1.0000 |
| 1:155328149:GG:G | acceptor_gain | 1.0000 |
| 1:155328149:GGA:G | acceptor_gain | 1.0000 |
| 1:155328273:TAGGT:T | donor_loss | 1.0000 |
| 1:155328274:AGG:A | donor_loss | 1.0000 |
| 1:155328275:GGT:G | donor_loss | 1.0000 |
| 1:155328276:GTA:G | donor_loss | 1.0000 |
| 1:155328277:T:A | donor_loss | 1.0000 |
| 1:155325097:CCCA:C | acceptor_loss | 0.9900 |
| 1:155325099:CA:C | acceptor_loss | 0.9900 |
| 1:155325100:A:AG | acceptor_gain | 0.9900 |
AlphaMissense
5781 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:155325129:T:A | V495D | 0.998 |
| 1:155325149:T:C | F502L | 0.998 |
| 1:155325151:C:A | F502L | 0.998 |
| 1:155325151:C:G | F502L | 0.998 |
| 1:155325150:T:C | F502S | 0.997 |
| 1:155325178:G:C | K511N | 0.997 |
| 1:155325178:G:T | K511N | 0.997 |
| 1:155325376:T:C | C532R | 0.997 |
| 1:155325666:T:C | L603P | 0.997 |
| 1:155330456:T:C | F865S | 0.997 |
| 1:155325359:T:C | L526P | 0.996 |
| 1:155325386:T:C | L535P | 0.996 |
| 1:155325669:T:C | L604P | 0.996 |
| 1:155325883:T:A | W612R | 0.995 |
| 1:155325883:T:C | W612R | 0.995 |
| 1:155326688:T:C | L657P | 0.995 |
| 1:155326693:T:C | F659L | 0.995 |
| 1:155326695:C:A | F659L | 0.995 |
| 1:155326695:C:G | F659L | 0.995 |
| 1:155321808:T:C | L12P | 0.994 |
| 1:155325117:T:A | V491D | 0.994 |
| 1:155325138:T:G | I498S | 0.994 |
| 1:155325374:T:C | L531P | 0.994 |
| 1:155325386:T:A | L535H | 0.994 |
| 1:155325669:T:A | L604H | 0.994 |
| 1:155326670:T:C | L651P | 0.994 |
| 1:155326694:T:C | F659S | 0.994 |
| 1:155326700:T:C | L661P | 0.994 |
| 1:155330455:T:C | F865L | 0.994 |
| 1:155330457:C:A | F865L | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000097114 (1:155328571 A>T), RS1000146031 (1:155328755 C>A,T), RS1001299987 (1:155328994 A>C), RS1001401431 (1:155329037 T>C), RS1001674000 (1:155328809 G>A,T), RS1002277075 (1:155328033 C>A), RS1003629295 (1:155330447 A>G), RS1003785765 (1:155323970 G>A), RS1003836399 (1:155324261 G>C), RS1004543884 (1:155331335 G>A), RS1004822135 (1:155324474 C>A,T), RS1005415302 (1:155323723 G>C), RS1005426257 (1:155323297 T>A,G), RS1005614574 (1:155327456 A>G), RS1005700122 (1:155323559 C>A,T)
Disease associations
OMIM: gene MIM:617318 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
16 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004131_70 | Inflammatory bowel disease | 6.000000e-08 |
| GCST004132_44 | Crohn’s disease | 2.000000e-07 |
| GCST007294_124 | Body fat distribution (trunk fat ratio) | 8.000000e-35 |
| GCST007294_3 | Body fat distribution (trunk fat ratio) | 6.000000e-21 |
| GCST007294_50 | Body fat distribution (trunk fat ratio) | 1.000000e-15 |
| GCST007295_17 | Body fat distribution (leg fat ratio) | 3.000000e-13 |
| GCST007295_37 | Body fat distribution (leg fat ratio) | 7.000000e-17 |
| GCST007295_72 | Body fat distribution (leg fat ratio) | 1.000000e-28 |
| GCST010696_19 | Cortical thickness (min-P) | 2.000000e-10 |
| GCST010697_10 | Cortical surface area (min-P) | 3.000000e-10 |
| GCST010698_59 | Subcortical volume (min-P) | 9.000000e-10 |
| GCST010699_20 | Brain morphology (min-P) | 7.000000e-10 |
| GCST010700_5 | Cortical thickness (MOSTest) | 8.000000e-17 |
| GCST010701_66 | Cortical surface area (MOSTest) | 1.000000e-09 |
| GCST010702_43 | Subcortical volume (MOSTest) | 3.000000e-10 |
| GCST010703_253 | Brain morphology (MOSTest) | 4.000000e-14 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004341 | body fat distribution |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs11264359 | FDPS, RUSC1 | 3 | 3.75 | 1 | atorvastatin;Bisphosphonates |
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| methacrylaldehyde | increases oxidation, increases abundance, affects cotreatment | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| ICG 001 | increases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cisplatin | increases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Dronabinol | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | affects expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, decreases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
| Volatile Organic Compounds | affects cotreatment, increases oxidation | 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.