KRR1
gene geneOn this page
Also known as RIP-1
Summary
KRR1 (KRR1 small subunit processome component, HGNC:5176) is a protein-coding gene on chromosome 12q21.2, encoding KRR1 small subunit processome component homolog (Q13601). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. It is a common-essential gene (DepMap: required in 97.2% of cancer cell lines).
Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Located in chromosome; intercellular bridge; and nuclear lumen. Part of small-subunit processome.
Source: NCBI Gene 11103 — RefSeq curated summary.
At a glance
- GWAS associations: 12
- Clinical variants (ClinVar): 47 total
- Cancer dependency (DepMap): dependent in 97.2% of screened cell lines (common-essential)
- MANE Select transcript:
NM_007043
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:5176 |
| Approved symbol | KRR1 |
| Name | KRR1 small subunit processome component |
| Location | 12q21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RIP-1 |
| Ensembl gene | ENSG00000111615 |
| Ensembl biotype | protein_coding |
| OMIM | 612817 |
| Entrez | 11103 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 7 protein_coding, 3 retained_intron
ENST00000229214, ENST00000438169, ENST00000550023, ENST00000550898, ENST00000551070, ENST00000907976, ENST00000907977, ENST00000935725, ENST00000935726, ENST00000935727
RefSeq mRNA: 1 — MANE Select: NM_007043
NM_007043
CCDS: CCDS9012
Canonical transcript exons
ENST00000229214 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000937320 | 75506484 | 75506609 |
| ENSE00000937321 | 75506316 | 75506399 |
| ENSE00000937322 | 75505198 | 75505254 |
| ENSE00001239174 | 75503904 | 75504074 |
| ENSE00001362565 | 75490863 | 75499951 |
| ENSE00002376883 | 75511513 | 75511609 |
| ENSE00003488836 | 75506782 | 75506916 |
| ENSE00003595938 | 75501723 | 75501816 |
| ENSE00003615577 | 75508274 | 75508446 |
| ENSE00003653005 | 75501923 | 75502000 |
Expression profiles
Bgee: expression breadth ubiquitous, 291 present calls, max score 98.11.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 43.5581 / max 1085.8300, expressed in 1802 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 132164 | 43.5581 | 1802 |
Top tissues by expression
296 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 98.11 | gold quality |
| oocyte | CL:0000023 | 97.73 | gold quality |
| tendon | UBERON:0000043 | 95.93 | gold quality |
| secondary oocyte | CL:0000655 | 95.78 | gold quality |
| adrenal tissue | UBERON:0018303 | 94.49 | gold quality |
| caput epididymis | UBERON:0004358 | 94.45 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 94.44 | gold quality |
| cauda epididymis | UBERON:0004360 | 94.08 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 93.67 | gold quality |
| corpus epididymis | UBERON:0004359 | 93.24 | gold quality |
| tonsil | UBERON:0002372 | 92.40 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.38 | gold quality |
| mammary duct | UBERON:0001765 | 92.36 | gold quality |
| hair follicle | UBERON:0002073 | 92.29 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 92.20 | gold quality |
| colonic epithelium | UBERON:0000397 | 92.15 | gold quality |
| stromal cell of endometrium | CL:0002255 | 92.09 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 92.06 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 92.03 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 91.93 | gold quality |
| biceps brachii | UBERON:0001507 | 91.85 | gold quality |
| esophagus mucosa | UBERON:0002469 | 91.74 | gold quality |
| medial globus pallidus | UBERON:0002477 | 91.52 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 91.48 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 91.38 | gold quality |
| cranial nerve II | UBERON:0000941 | 91.30 | gold quality |
| endometrium | UBERON:0001295 | 91.20 | gold quality |
| minor salivary gland | UBERON:0001830 | 91.15 | gold quality |
| synovial joint | UBERON:0002217 | 91.13 | gold quality |
| bone marrow | UBERON:0002371 | 91.03 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9543 | yes | 6.62 |
| E-ENAD-17 | no | 382.14 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
100 targeting KRR1, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-3682-5P | 99.93 | 67.97 | 1163 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-219A-5P | 99.91 | 73.36 | 735 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 97.2% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 1)
- The antibody response to KRR1 was higher in sera of patients with invasive ductal carcinoma than in sera of patients with other histological types of breast tumors. (PMID:27847402)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | krr1 | ENSDARG00000011246 |
| mus_musculus | Krr1 | ENSMUSG00000063334 |
| rattus_norvegicus | Krr1 | ENSRNOG00000004035 |
| drosophila_melanogaster | dbe | FBGN0020305 |
| caenorhabditis_elegans | WBGENE00015461 |
Protein
Protein identifiers
KRR1 small subunit processome component homolog — Q13601 (reviewed: Q13601)
Alternative names: HIV-1 Rev-binding protein 2, KRR-R motif-containing protein 1, Rev-interacting protein 1
All UniProt accessions (1): Q13601
UniProt curated annotations — full annotation on UniProt →
Function. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome.
Subunit / interactions. Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3. (Microbial infection) Directly interacts with HIV-1 protein VPR. Also identified in a complex with NR3C1 and HIV-1 protein VPR.
Subcellular location. Nucleus. Nucleolus Nucleus. Cytoplasm.
Similarity. Belongs to the KRR1 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q13601-1 | 1 | yes |
| Q13601-2 | 2 |
RefSeq proteins (1): NP_008974* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004087 | KH_dom | Domain |
| IPR024166 | rRNA_assembly_KRR1 | Family |
| IPR036612 | KH_dom_type_1_sf | Homologous_superfamily |
| IPR041174 | KRR1-like_KH1 | Domain |
| IPR048548 | KRR1-like_KH2 | Domain |
| IPR048549 | KRR1-like_KH2_euk | Domain |
| IPR048550 | KRR1-like_KH1_euk | Domain |
Pfam: PF17903, PF21800
UniProt features (26 total): sequence conflict 9, modified residue 3, cross-link 3, region of interest 3, compositionally biased region 3, initiator methionine 1, chain 1, splice variant 1, sequence variant 1, domain 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7MQ8 | ELECTRON MICROSCOPY | 3.6 |
| 7MQ9 | ELECTRON MICROSCOPY | 3.87 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13601-F1 | 81.24 | 0.48 |
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 (6): 3, 5, 24, 340, 369, 2
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-6790901 | rRNA modification in the nucleus and cytosol |
| R-HSA-6791226 | Major pathway of rRNA processing in the nucleolus and cytosol |
| R-HSA-72312 | rRNA processing |
| R-HSA-8868773 | rRNA processing in the nucleus and cytosol |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 174 (showing top):
GOBP_RIBOSOME_BIOGENESIS, MORF_FLT1, YAGI_AML_WITH_INV_16_TRANSLOCATION, MORF_MSH3, GOBP_MATURATION_OF_SSU_RRNA, MORF_BRCA1, MORF_ESR1, MORF_RAD51L3, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, chr12q21, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, NOUZOVA_TRETINOIN_AND_H4_ACETYLATION, MORF_ATF2, MORF_BCL2L11
GO Biological Process (3): rRNA processing (GO:0006364), ribosomal small subunit biogenesis (GO:0042274), ribosome biogenesis (GO:0042254)
GO Molecular Function (3): RNA binding (GO:0003723), nucleic acid binding (GO:0003676), protein binding (GO:0005515)
GO Cellular Component (9): nucleoplasm (GO:0005654), chromosome (GO:0005694), nucleolus (GO:0005730), cytoplasm (GO:0005737), membrane (GO:0016020), small-subunit processome (GO:0032040), intercellular bridge (GO:0045171), nucleus (GO:0005634), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| rRNA processing in the nucleus and cytosol | 2 |
| Metabolism of RNA | 1 |
| rRNA processing | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| ribosome biogenesis | 2 |
| ribonucleoprotein complex biogenesis | 2 |
| binding | 2 |
| nuclear lumen | 2 |
| intracellular membraneless organelle | 2 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| nucleic acid binding | 1 |
| intracellular anatomical structure | 1 |
| nucleolus | 1 |
| preribosome | 1 |
| t-UTP complex | 1 |
| nuclear protein-containing complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
2873 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KRR1 | KRI1 | Q8N9T8 | 784 |
| KRR1 | HNRNPK | P61978 | 753 |
| KRR1 | PDCD11 | Q14690 | 737 |
| KRR1 | BYSL | Q13895 | 710 |
| KRR1 | BMS1 | Q14692 | 696 |
| KRR1 | RRP7A | Q9Y3A4 | 692 |
| KRR1 | UTP20 | O75691 | 678 |
| KRR1 | NOL6 | Q9H6R4 | 678 |
| KRR1 | DDX52 | Q9Y2R4 | 665 |
| KRR1 | WDR46 | O15213 | 664 |
| KRR1 | SUOX | P51687 | 649 |
| KRR1 | DENND1A | Q8TEH3 | 642 |
| KRR1 | FCF1 | Q9Y324 | 627 |
| KRR1 | HEATR1 | Q9H583 | 625 |
| KRR1 | PNO1 | Q9NRX1 | 617 |
IntAct
218 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NOP10 | DKC1 | psi-mi:“MI:0914”(association) | 0.890 |
| LARP7 | CCNT1 | psi-mi:“MI:0914”(association) | 0.850 |
| RPS14 | KRR1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| H2AX | PPM1G | psi-mi:“MI:0914”(association) | 0.730 |
| USP44 | CETN2 | psi-mi:“MI:0914”(association) | 0.690 |
| H1-1 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| SNRPA1 | HTATSF1 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| RPS14 | MAGEB2 | psi-mi:“MI:0914”(association) | 0.560 |
| H1-6 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| H1-4 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| MAK16 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPL7 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| RPSA | DKC1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZCRB1 | DKC1 | psi-mi:“MI:0914”(association) | 0.530 |
| N | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.530 |
| NSA2 | TYW5 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS3 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| CCDC59 | GAPDHS | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (475): KRR1 (Affinity Capture-RNA), KRR1 (Affinity Capture-MS), KRR1 (Affinity Capture-MS), KRR1 (Affinity Capture-MS), KRR1 (Affinity Capture-MS), KRR1 (Affinity Capture-MS), KRR1 (Affinity Capture-MS), KRR1 (Affinity Capture-MS), KRR1 (Affinity Capture-MS), KRR1 (Affinity Capture-MS), KRR1 (Affinity Capture-MS), KRR1 (Affinity Capture-MS), KRR1 (Affinity Capture-MS), KRR1 (Two-hybrid), AATF (Co-fractionation)
ESM2 similar proteins: A5IQE7, A6QEP6, A6TZ71, A7WZ38, A8YZU0, A9GI17, B3LU25, B3MM49, B3N899, B4G9L6, B4JDU5, B4KF66, B4LTY6, B4N0P7, B4P2Y8, B4U4H7, B5VEQ2, B9DKS1, C0MH28, C8Z430, E7LRT8, E7QBZ1, O07633, O74777, P0C1E7, P17531, P18333, P25586, P56835, Q13601, Q2FJ50, Q2G0I5, Q2YS71, Q3B7L9, Q49VE6, Q4L3R9, Q54UU6, Q5FJL5, Q5HI83, Q5HRF2
Diamond homologs: B3LU25, B3MM49, B3N899, B4G9L6, B4JDU5, B4KF66, B4LTY6, B4N0P7, B4P2Y8, B5VEQ2, C8Z430, E7LRT8, E7QBZ1, O74777, P25586, Q13601, Q3B7L9, Q54UU6, Q8BGA5, Q9VPU8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 187 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Eukaryotic Translation Initiation | 13 | 33.4× | 8e-16 |
| Cap-dependent Translation Initiation | 13 | 33.4× | 8e-16 |
| SARS-CoV-1 modulates host translation machinery | 13 | 33.4× | 8e-16 |
| Eukaryotic Translation Elongation | 13 | 30.2× | 4e-15 |
| Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S | 13 | 29.5× | 5e-15 |
| Formation of Senescence-Associated Heterochromatin Foci (SAHF) | 5 | 28.0× | 7e-06 |
| Nonsense-Mediated Decay (NMD) | 14 | 27.2× | 1e-15 |
| Influenza Viral RNA Transcription and Replication | 14 | 25.1× | 4e-15 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of DNA recombination | 7 | 46.0× | 1e-08 |
| chromosome condensation | 7 | 34.5× | 9e-08 |
| maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 5 | 27.4× | 6e-05 |
| regulation of mRNA splicing, via spliceosome | 5 | 25.9× | 7e-05 |
| cytoplasmic translation | 23 | 24.9× | 3e-23 |
| ribosomal small subunit biogenesis | 15 | 20.0× | 2e-13 |
| ribosomal large subunit biogenesis | 7 | 18.1× | 9e-06 |
| translation | 23 | 13.8× | 3e-17 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
47 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 24 |
| Likely benign | 8 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1948 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:75495571:TTACA:T | acceptor_loss | 1.0000 |
| 12:75495572:TACA:T | acceptor_loss | 1.0000 |
| 12:75495572:TACAG:T | acceptor_gain | 1.0000 |
| 12:75495573:ACAG:A | acceptor_loss | 1.0000 |
| 12:75495573:ACAGA:A | acceptor_gain | 1.0000 |
| 12:75495574:CAG:C | acceptor_gain | 1.0000 |
| 12:75495574:CAGA:C | acceptor_loss | 1.0000 |
| 12:75495575:A:AG | acceptor_gain | 1.0000 |
| 12:75495575:A:C | acceptor_loss | 1.0000 |
| 12:75495575:AGA:A | acceptor_gain | 1.0000 |
| 12:75495575:AGAG:A | acceptor_gain | 1.0000 |
| 12:75495575:AGAGG:A | acceptor_gain | 1.0000 |
| 12:75495576:G:GA | acceptor_gain | 1.0000 |
| 12:75495576:GA:G | acceptor_gain | 1.0000 |
| 12:75495576:GAG:G | acceptor_gain | 1.0000 |
| 12:75495576:GAGG:G | acceptor_gain | 1.0000 |
| 12:75495576:GAGGG:G | acceptor_gain | 1.0000 |
| 12:75495659:TGTGG:T | donor_loss | 1.0000 |
| 12:75495660:GTG:G | donor_gain | 1.0000 |
| 12:75495660:GTGGT:G | donor_loss | 1.0000 |
| 12:75495661:TGGTG:T | donor_loss | 1.0000 |
| 12:75495663:G:GG | donor_gain | 1.0000 |
| 12:75495664:T:G | donor_loss | 1.0000 |
| 12:75495665:G:GT | donor_loss | 1.0000 |
| 12:75495666:AGTAA:A | donor_loss | 1.0000 |
| 12:75498684:A:AG | acceptor_gain | 1.0000 |
| 12:75498685:A:G | acceptor_gain | 1.0000 |
| 12:75498692:A:AG | acceptor_gain | 1.0000 |
| 12:75498693:G:GG | acceptor_gain | 1.0000 |
| 12:75498721:G:GG | donor_gain | 1.0000 |
AlphaMissense
2526 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:75504009:A:C | F242L | 1.000 |
| 12:75504009:A:T | F242L | 1.000 |
| 12:75504011:A:G | F242L | 1.000 |
| 12:75504018:C:A | W239C | 1.000 |
| 12:75504018:C:G | W239C | 1.000 |
| 12:75504020:A:G | W239R | 1.000 |
| 12:75504020:A:T | W239R | 1.000 |
| 12:75504052:A:G | L228S | 1.000 |
| 12:75504067:A:G | M223T | 1.000 |
| 12:75505198:T:A | K220N | 1.000 |
| 12:75505198:T:G | K220N | 1.000 |
| 12:75505214:G:T | P215Q | 1.000 |
| 12:75505216:A:C | H214Q | 1.000 |
| 12:75505216:A:T | H214Q | 1.000 |
| 12:75505217:T:C | H214R | 1.000 |
| 12:75505218:G:C | H214D | 1.000 |
| 12:75506338:C:T | G194E | 1.000 |
| 12:75506339:C:G | G194R | 1.000 |
| 12:75506339:C:T | G194R | 1.000 |
| 12:75506350:A:T | V190D | 1.000 |
| 12:75506359:C:T | G187E | 1.000 |
| 12:75506360:C:G | G187R | 1.000 |
| 12:75506360:C:T | G187R | 1.000 |
| 12:75506376:A:C | C181W | 1.000 |
| 12:75506389:A:G | L177P | 1.000 |
| 12:75506506:C:T | G166D | 1.000 |
| 12:75506507:C:G | G166R | 1.000 |
| 12:75506520:T:A | R161S | 1.000 |
| 12:75506520:T:G | R161S | 1.000 |
| 12:75506521:C:G | R161T | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000708245 (12:75500374 C>CTCAATA), RS1000779003 (12:75506811 G>A), RS1000806805 (12:75497266 T>C), RS1000972255 (12:75510896 G>A), RS1000984369 (12:75503724 C>A,T), RS1001076824 (12:75491034 T>C), RS1001321188 (12:75492412 A>G), RS1001602953 (12:75505398 G>A), RS1001826806 (12:75498410 T>G), RS1001944167 (12:75512035 T>C), RS1001987913 (12:75512076 A>G,T), RS1002019025 (12:75511857 G>A), RS1002205769 (12:75500011 A>G), RS1002288375 (12:75494253 A>G), RS1002297888 (12:75495877 AAAC>A,AAACAAC)
Disease associations
OMIM: gene MIM:612817 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
12 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002041_7 | Blood trace element (Cu levels) | 3.000000e-06 |
| GCST003144_6 | Polycystic ovary syndrome | 2.000000e-08 |
| GCST003518_77 | Daytime sleep phenotypes | 8.000000e-06 |
| GCST005984_58 | Glomerular filtration rate | 1.000000e-11 |
| GCST005985_38 | Creatinine levels | 1.000000e-12 |
| GCST005986_15 | Blood urea nitrogen levels | 6.000000e-09 |
| GCST006061_120 | Atrial fibrillation | 4.000000e-10 |
| GCST006061_121 | Atrial fibrillation | 8.000000e-09 |
| GCST007089_12 | Polycystic ovary syndrome | 2.000000e-09 |
| GCST007344_10 | Estimated glomerular filtration rate | 1.000000e-08 |
| GCST009723_31 | Vertical cup-disc ratio (adjusted for vertical disc diameter) | 3.000000e-08 |
| GCST010396_209 | Gut microbiota (bacterial taxa, hurdle binary method) | 4.000000e-06 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005267 | serum copper measurement |
| EFO:0007828 | daytime rest measurement |
| EFO:0006939 | cup-to-disc ratio measurement |
| EFO:0007874 | gut microbiome measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| deoxynivalenol | increases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| nivalenol | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| ICG 001 | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Vorinostat | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | increases methylation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Coal | decreases expression, increases abundance | 1 |
| Dinitrochlorobenzene | affects binding | 1 |
| Estradiol | affects expression | 1 |
| Gold | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methotrexate | affects response to substance | 1 |
| Mitoxantrone | affects response to substance | 1 |
| Piroxicam | increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Selenium | decreases expression | 1 |
| Smoke | decreases expression, increases abundance | 1 |
| Thimerosal | increases expression | 1 |
| Valproic Acid | 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): polycystic ovary syndrome