PYHIN1
gene geneOn this page
Also known as IFIXMGC23885
Summary
PYHIN1 (pyrin and HIN domain family member 1, HGNC:28894) is a protein-coding gene on chromosome 1q23.1, encoding Pyrin and HIN domain-containing protein 1 (Q6K0P9). Major mediator of the tumor suppressor activity of IFN in breast cancer cells.
The protein encoded by this gene belongs to the HIN-200 family of interferon-inducible proteins that share a 200-amino acid signature motif at their C-termini. HIN200 proteins are primarily nuclear and are involved in transcriptional regulation of genes important for cell cycle control, differentiation, and apoptosis. Downregulation of this gene is associated with breast cancer. This protein acts as a tumor suppressor by promoting ubiquitination and subsequent degradation of MDM2, which leads to stabilization of p53/TP53. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.
Source: NCBI Gene 149628 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 62 total
- MANE Select transcript:
NM_152501
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28894 |
| Approved symbol | PYHIN1 |
| Name | pyrin and HIN domain family member 1 |
| Location | 1q23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | IFIX, MGC23885 |
| Ensembl gene | ENSG00000163564 |
| Ensembl biotype | protein_coding |
| OMIM | 612677 |
| Entrez | 149628 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000368135, ENST00000368138, ENST00000368140, ENST00000392252, ENST00000392254, ENST00000458222, ENST00000485134
RefSeq mRNA: 5 — MANE Select: NM_152501
NM_001410886, NM_152501, NM_198928, NM_198929, NM_198930
CCDS: CCDS1178, CCDS1179, CCDS30907, CCDS30908, CCDS91077
Canonical transcript exons
ENST00000368140 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001076006 | 158938397 | 158938542 |
| ENSE00001380490 | 158973647 | 158973771 |
| ENSE00001383959 | 158944875 | 158945042 |
| ENSE00001446405 | 158931552 | 158931776 |
| ENSE00001632728 | 158976701 | 158977059 |
| ENSE00002382769 | 158939080 | 158939247 |
| ENSE00002387824 | 158936891 | 158937175 |
| ENSE00003622783 | 158941977 | 158942399 |
| ENSE00003692892 | 158943790 | 158943978 |
Expression profiles
Bgee: expression breadth ubiquitous, 168 present calls, max score 93.35.
FANTOM5 (CAGE): breadth broad, TPM avg 5.7239 / max 498.4989, expressed in 254 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 5914 | 5.3003 | 244 |
| 5913 | 0.1450 | 54 |
| 5915 | 0.1394 | 60 |
| 5911 | 0.1009 | 44 |
| 5912 | 0.0382 | 21 |
Top tissues by expression
271 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 93.35 | gold quality |
| blood | UBERON:0000178 | 87.36 | gold quality |
| lymph node | UBERON:0000029 | 86.14 | gold quality |
| spleen | UBERON:0002106 | 82.50 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.38 | gold quality |
| buccal mucosa cell | CL:0002336 | 81.34 | gold quality |
| vermiform appendix | UBERON:0001154 | 77.38 | gold quality |
| superficial temporal artery | UBERON:0001614 | 76.42 | gold quality |
| gall bladder | UBERON:0002110 | 74.61 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 74.45 | gold quality |
| tonsil | UBERON:0002372 | 73.19 | gold quality |
| diaphragm | UBERON:0001103 | 73.12 | gold quality |
| caecum | UBERON:0001153 | 72.58 | gold quality |
| olfactory bulb | UBERON:0002264 | 71.53 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 71.49 | gold quality |
| type B pancreatic cell | CL:0000169 | 71.36 | gold quality |
| bone marrow cell | CL:0002092 | 71.23 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 70.76 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 69.75 | gold quality |
| upper lobe of lung | UBERON:0008948 | 69.75 | gold quality |
| right lung | UBERON:0002167 | 69.57 | gold quality |
| rectum | UBERON:0001052 | 69.51 | gold quality |
| omental fat pad | UBERON:0010414 | 69.38 | gold quality |
| peritoneum | UBERON:0002358 | 69.30 | gold quality |
| small intestine | UBERON:0002108 | 69.20 | gold quality |
| bone marrow | UBERON:0002371 | 69.17 | gold quality |
| leukocyte | CL:0000738 | 69.08 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 68.74 | gold quality |
| right lobe of liver | UBERON:0001114 | 67.96 | gold quality |
| colonic epithelium | UBERON:0000397 | 67.59 | gold quality |
Single-cell (SCXA)
Detected in 11 experiment(s), a significant marker in 9.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-1 | yes | 101.05 |
| E-MTAB-9467 | yes | 39.28 |
| E-CURD-122 | yes | 39.21 |
| E-HCAD-10 | yes | 27.19 |
| E-ANND-3 | yes | 23.57 |
| E-MTAB-10553 | yes | 13.63 |
| E-MTAB-6678 | yes | 10.31 |
| E-MTAB-9067 | yes | 5.73 |
| E-GEOD-130148 | yes | 4.89 |
| E-GEOD-75367 | no | 382.93 |
| E-CURD-112 | no | 3.70 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| HDAC1 | Repression |
| SERPINB5 | Activation |
Upstream regulators (CollecTRI, top): TP53
miRNA regulators (miRDB)
54 targeting PYHIN1, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548O-5P | 99.94 | 71.24 | 3488 |
Literature-anchored findings (GeneRIF, showing 5)
- a new member of the hematopoietic interferon (IFN)-inducible nuclear protein. Six different alternatively spliced forms are transcribed from the IFIX gene (PMID:15122330)
- IFIX alpha1 isoform functions as a tumor suppressor by repressing HDM2 function (PMID:16479015)
- IFIXalpha suppressed the invasion activity of MDA-MB-468 breast cancer cells, and its inhibitory effect was reversed by the knockdown of maspin (PMID:18247378)
- Study demonstrates that IFIX antiviral functions work in part via viral transcriptional suppression and that HSV-1 has acquired mechanisms to block its functions via proteasome-dependent degradation. (PMID:28077445)
- PYHIN1 regulates pro-inflammatory cytokine induction rather than innate immune DNA sensing in airway epithelial cells. (PMID:32102850)
Cross-species orthologs
0 orthologs
Paralogs (3): MNDA (ENSG00000163563), IFI16 (ENSG00000163565), AIM2 (ENSG00000163568)
Protein
Protein identifiers
Pyrin and HIN domain-containing protein 1 — Q6K0P9 (reviewed: Q6K0P9)
Alternative names: Interferon-inducible protein X
All UniProt accessions (2): Q6K0P9, X6RHR0
UniProt curated annotations — full annotation on UniProt →
Function. Major mediator of the tumor suppressor activity of IFN in breast cancer cells. Promotes ubiquitination and subsequent degradation of MDM2, which leads to p53/TP53 stabilization. Promotes ubiquitination and subsequent degradation of HDAC1, which in turn enhances maspin expression, and impairs invasive activity of cancer cells.
Subunit / interactions. Interacts with MDM2.
Subcellular location. Nucleus. Nucleoplasm Nucleus. Nucleus speckle.
Tissue specificity. Expressed in spleen, lymph node and peripheral blood leukocytes, and at lower levels in thymus, bone marrow and fetal liver. Down-regulated in breast tumors.
Domain organisation. The HIN-200 domain mediates interaction with MDM2.
Induction. By IFN-alphas and IFNG/IFN-gamma in hematopoietic cancer cells.
Similarity. Belongs to the HIN-200 family.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6K0P9-1 | 1, alpha1 | yes |
| Q6K0P9-2 | 2, alpha2 | |
| Q6K0P9-3 | 3, beta1 | |
| Q6K0P9-4 | 4, beta2 | |
| Q6K0P9-5 | 5, gamma1 | |
| Q6K0P9-6 | 6, gamma2 |
RefSeq proteins (5): NP_001397815, NP_689714, NP_945146, NP_945147, NP_945148 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004020 | DAPIN | Domain |
| IPR004021 | HIN200/IF120x | Domain |
| IPR011029 | DEATH-like_dom_sf | Homologous_superfamily |
| IPR012340 | NA-bd_OB-fold | Homologous_superfamily |
| IPR040205 | HIN-200 | Family |
Pfam: PF02758, PF02760
UniProt features (14 total): compositionally biased region 5, splice variant 4, domain 2, region of interest 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6K0P9-F1 | 72.76 | 0.52 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 164 (showing top):
GOBP_POSITIVE_REGULATION_OF_DNA_DAMAGE_RESPONSE_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR, GOBP_RESPONSE_TO_PEPTIDE, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_DNA_DAMAGE_RESPONSE_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR, GOBP_RESPONSE_TO_INTERFERON_BETA, GOBP_RESPONSE_TO_INTERFERON_ALPHA, GOBP_POSITIVE_REGULATION_OF_BINDING, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION_TO_NUCLEUS, GOBP_POSITIVE_REGULATION_OF_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_PROTEIN_DESTABILIZATION, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM
GO Biological Process (10): activation of innate immune response (GO:0002218), protein destabilization (GO:0031648), cellular response to interferon-alpha (GO:0035457), cellular response to interferon-beta (GO:0035458), positive regulation of DNA binding (GO:0043388), positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517), positive regulation of DNA-templated transcription (GO:0045893), protein stabilization (GO:0050821), positive regulation of protein localization to nucleus (GO:1900182), positive regulation of ubiquitin-dependent protein catabolic process (GO:2000060)
GO Molecular Function (2): double-stranded DNA binding (GO:0003690), ubiquitin protein ligase binding (GO:0031625)
GO Cellular Component (6): nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), nuclear speck (GO:0016607), protein-containing complex (GO:0032991), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of protein stability | 2 |
| cellular response to cytokine stimulus | 2 |
| DNA binding | 2 |
| nuclear lumen | 2 |
| cellular anatomical structure | 2 |
| activation of immune response | 1 |
| positive regulation of innate immune response | 1 |
| response to interferon-alpha | 1 |
| response to interferon-beta | 1 |
| positive regulation of binding | 1 |
| regulation of DNA binding | 1 |
| DNA damage response, signal transduction by p53 class mediator | 1 |
| regulation of DNA damage response, signal transduction by p53 class mediator | 1 |
| positive regulation of signal transduction by p53 class mediator | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| protein localization to nucleus | 1 |
| regulation of protein localization to nucleus | 1 |
| positive regulation of protein localization | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| positive regulation of protein catabolic process | 1 |
| regulation of ubiquitin-dependent protein catabolic process | 1 |
| ubiquitin-like protein ligase binding | 1 |
| intracellular membraneless organelle | 1 |
| cytoplasm | 1 |
| nuclear ribonucleoprotein granule | 1 |
| cellular_component | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1330 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PYHIN1 | MEFV | O15553 | 778 |
| PYHIN1 | SERPINB5 | P36952 | 585 |
| PYHIN1 | PYCARD | Q9ULZ3 | 531 |
| PYHIN1 | ORMDL3 | Q8N138 | 507 |
| PYHIN1 | DENND1B | Q6P3S1 | 480 |
| PYHIN1 | GSDMB | Q8TAX9 | 479 |
| PYHIN1 | GBP3 | Q9H0R5 | 462 |
| PYHIN1 | IFIT3 | O14879 | 461 |
| PYHIN1 | CMPK2 | Q5EBM0 | 455 |
| PYHIN1 | CGAS | Q8N884 | 454 |
| PYHIN1 | XAF1 | Q6GPH4 | 447 |
| PYHIN1 | DDX41 | Q9UJV9 | 445 |
| PYHIN1 | GBP6 | Q6ZN66 | 437 |
| PYHIN1 | SUMO2 | P55855 | 430 |
| PYHIN1 | IFIT2 | P09913 | 425 |
IntAct
7 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PYHIN1 | psi-mi:“MI:0407”(direct interaction) | 0.540 | |
| PYHIN1 | psi-mi:“MI:0915”(physical association) | 0.540 | |
| UL83 | PYHIN1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PYHIN1 | DUSP14 | psi-mi:“MI:0914”(association) | 0.350 |
| PYHIN1 | SUPT5H | psi-mi:“MI:0914”(association) | 0.350 |
| PYHIN1 | psi-mi:“MI:0403”(colocalization) | 0.270 |
BioGRID (431): TRIM26 (Affinity Capture-MS), SERPINB5 (Affinity Capture-MS), CALML3 (Affinity Capture-MS), VPRBP (Affinity Capture-MS), LYG2 (Affinity Capture-MS), S100A3 (Affinity Capture-MS), PLCD1 (Affinity Capture-MS), LRRC15 (Affinity Capture-MS), HEPHL1 (Affinity Capture-MS), LGALS3 (Affinity Capture-MS), VSIG8 (Affinity Capture-MS), DSG4 (Affinity Capture-MS), NEU2 (Affinity Capture-MS), AIM1 (Affinity Capture-MS), FAM26D (Affinity Capture-MS)
ESM2 similar proteins: A6H5X4, B1AUS7, D0QMC3, O35368, O60224, O60225, P0C6Y7, P0DOV1, P0DOV2, P23497, P41218, Q15361, Q16384, Q16385, Q16666, Q2KIN0, Q3U827, Q3ZCI6, Q4R7Q1, Q504N7, Q5H9L4, Q5I0E2, Q5I0J8, Q5RAK3, Q5RCZ8, Q5RD14, Q5W0A0, Q62187, Q6K0P9, Q71F23, Q7RTT3, Q7RTT4, Q7RTT5, Q7RTT6, Q86T96, Q8BV49, Q8BVM9, Q8C0V1, Q8C6C7, Q8CGE8
Diamond homologs: D0QMC3, O14862, O35368, P0DOV1, P0DOV2, P41218, Q16666, Q3V3Q4, Q504N7, Q5RD14, Q6K0P9, Q8BV49, Q8CGE8, Q8SPH9, Q91VJ1, Q9R002, W6CW81
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PYHIN1 | “down-regulates quantity by destabilization” | MDM2 | binding |
| PYHIN1 | “down-regulates quantity by repression” | HDAC1 | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
62 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 46 |
| Likely benign | 9 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
989 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:158931772:GTAAG:G | donor_gain | 1.0000 |
| 1:158931777:G:GG | donor_gain | 1.0000 |
| 1:158943786:GCA:G | acceptor_loss | 1.0000 |
| 1:158943788:A:AG | acceptor_gain | 1.0000 |
| 1:158943788:A:C | acceptor_loss | 1.0000 |
| 1:158943789:G:GG | acceptor_gain | 1.0000 |
| 1:158943789:GA:G | acceptor_gain | 1.0000 |
| 1:158943789:GAA:G | acceptor_gain | 1.0000 |
| 1:158943789:GAAA:G | acceptor_gain | 1.0000 |
| 1:158943789:GAAAA:G | acceptor_gain | 1.0000 |
| 1:158943893:GAGA:G | donor_gain | 1.0000 |
| 1:158943975:CCAG:C | donor_loss | 1.0000 |
| 1:158943976:CAG:C | donor_loss | 1.0000 |
| 1:158943979:GTGAG:G | donor_loss | 1.0000 |
| 1:158943980:T:A | donor_loss | 1.0000 |
| 1:158931773:TAAG:T | donor_gain | 0.9900 |
| 1:158931775:AGGTG:A | donor_loss | 0.9900 |
| 1:158931776:GGTG:G | donor_loss | 0.9900 |
| 1:158931777:G:GA | donor_loss | 0.9900 |
| 1:158931778:T:G | donor_loss | 0.9900 |
| 1:158938393:T:G | acceptor_gain | 0.9900 |
| 1:158938395:A:AG | acceptor_gain | 0.9900 |
| 1:158938396:G:GG | acceptor_gain | 0.9900 |
| 1:158938396:GTT:G | acceptor_gain | 0.9900 |
| 1:158939079:GAAAA:G | acceptor_gain | 0.9900 |
| 1:158941963:T:TA | acceptor_gain | 0.9900 |
| 1:158941967:T:G | acceptor_gain | 0.9900 |
| 1:158943783:GTTGC:G | acceptor_loss | 0.9900 |
| 1:158943896:A:G | donor_gain | 0.9900 |
| 1:158943934:G:T | donor_gain | 0.9900 |
AlphaMissense
3242 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:158943967:A:C | S394R | 0.993 |
| 1:158943969:T:A | S394R | 0.993 |
| 1:158943969:T:G | S394R | 0.993 |
| 1:158942184:T:C | F263L | 0.989 |
| 1:158942186:C:A | F263L | 0.989 |
| 1:158942186:C:G | F263L | 0.989 |
| 1:158942112:T:C | F239L | 0.987 |
| 1:158942114:T:A | F239L | 0.987 |
| 1:158942114:T:G | F239L | 0.987 |
| 1:158942118:G:C | A241P | 0.986 |
| 1:158943916:T:C | F377L | 0.986 |
| 1:158943918:T:A | F377L | 0.986 |
| 1:158943918:T:G | F377L | 0.986 |
| 1:158942185:T:C | F263S | 0.984 |
| 1:158937076:T:C | F56L | 0.979 |
| 1:158937078:C:A | F56L | 0.979 |
| 1:158937078:C:G | F56L | 0.979 |
| 1:158943817:T:G | Y344D | 0.977 |
| 1:158943917:T:C | F377S | 0.977 |
| 1:158937055:G:C | A49P | 0.975 |
| 1:158942113:T:C | F239S | 0.975 |
| 1:158942119:C:A | A241D | 0.975 |
| 1:158942385:T:C | F330L | 0.975 |
| 1:158942387:T:A | F330L | 0.975 |
| 1:158942387:T:G | F330L | 0.975 |
| 1:158943968:G:T | S394I | 0.970 |
| 1:158942073:T:C | F226L | 0.967 |
| 1:158942075:T:A | F226L | 0.967 |
| 1:158942075:T:G | F226L | 0.967 |
| 1:158937056:C:A | A49D | 0.964 |
dbSNP variants (sampled 300 via entrez): RS1000009592 (1:158986313 G>C), RS1000155565 (1:158947315 T>C), RS1000176095 (1:158989381 C>G), RS1000194296 (1:158936040 T>C), RS1000205795 (1:158956976 C>G), RS1000231402 (1:158983113 C>G), RS1000277345 (1:158939547 C>T), RS1000366495 (1:158933494 C>T), RS1000419111 (1:158933244 A>G), RS1000438624 (1:158947666 A>C), RS1000475506 (1:158986022 TA>T), RS1000484033 (1:158961783 G>A), RS1000494262 (1:158966145 A>C,G), RS1000590654 (1:158953525 C>A,T), RS1000660815 (1:158952903 T>A)
Disease associations
OMIM: gene MIM:612677 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): prostate cancer (MONDO:0008315)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001182_7 | Asthma | 4.000000e-09 |
| GCST002743_1 | Neutrophil count in HIV-infection | 3.000000e-06 |
| GCST009269_21 | Dental caries (decayed and filled deciduous teeth) | 3.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004833 | neutrophil count |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: other protein — Absent in melanoma (AIM)-like receptors (ALRs)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases expression, increases methylation | 2 |
| Dinitrochlorobenzene | affects binding, decreases expression | 2 |
| Formaldehyde | decreases expression, increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | affects methylation | 1 |
| nickel sulfate | decreases expression | 1 |
| hydroquinone | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Demecolcine | increases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Lipopolysaccharides | affects response to substance, increases expression, decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| N-Nitrosopyrrolidine | increases expression | 1 |
| Nickel | increases expression | 1 |
| Oxazolone | decreases expression | 1 |
| Vincristine | increases expression | 1 |
| Aflatoxin B1 | increases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1H5 | Abcam A-549 PYHIN1 KO 1 | Cancer cell line | Male |
| CVCL_B2PP | Abcam A-549 PYHIN1 KO 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.