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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. [provided by RefSeq, Aug 2011]
PYHIN1 (Pyrin And HIN Domain Family Member 1) is a Protein Coding gene. Diseases associated with PYHIN1 include Breast Cancer and Limited Scleroderma. An important paralog of this gene is IFI16.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH01J158929 | Promoter/Enhancer | 1.1 | EPDnew Ensembl ENCODE | 600.7 | +1.4 | 1431 | 5.2 | JUNB SPI1 BATF TCF7 | PYHIN1 ACKR1 piR-58706-001 IFI16 | |
GH01J159004 | Promoter/Enhancer | 2.1 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 1.4 | +80.3 | 80289 | 12.6 | SP1 ATF7 IKZF1 POLR2A BACH1 JUND STAT3 RELA ZNF24 MTA1 | IFI16 OR6N2 RAD1P2 CADM3-AS1 ACKR1 AIM2 PYHIN1 lnc-AIM2-3 PYDC5 | |
GH01J158818 | Enhancer | 1.3 | FANTOM5 ENCODE dbSUPER | 1.3 | -111.3 | -111342 | 2 | LEF1 IKZF1 JUND MTA2 PKNOX1 ZNF24 NR2C1 ZNF740 DPF2 HDAC1 | MNDA CD1D PYHIN1 IFI16 piR-32023-021 OR10AA1P OR6N1 OR6N2 | |
GH01J158808 | Promoter/Enhancer | 0.9 | FANTOM5 Ensembl dbSUPER | 1.8 | -121.2 | -121170 | 1.3 | SPI1 CEBPB | OR10AA1P MNDA OR6N2 OR6N1 PYHIN1 IFI16 piR-32023-021 | |
GH01J158997 | Enhancer | 0.3 | ENCODE dbSUPER | 4.4 | +66.4 | 66410 | 0.2 | PYHIN1 IFI16 lnc-AIM2-3 piR-34416 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003690 | double-stranded DNA binding | IBA | 21873635 |
GO:0031625 | ubiquitin protein ligase binding | IPI | 16479015 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IEA | -- |
GO:0005730 | nucleolus | IBA | 21873635 |
GO:0016607 | nuclear speck | IEA | -- |
GO:0032991 | protein-containing complex | IMP | 16479015 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002218 | activation of innate immune response | IBA | 21873635 |
GO:0007049 | cell cycle | IEA | -- |
GO:0031648 | protein destabilization | IMP | 16479015 |
GO:0032731 | positive regulation of interleukin-1 beta production | IBA | 21873635 |
GO:0035457 | cellular response to interferon-alpha | IMP | 16479015 |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PYHIN1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pydc4 31 |
|
ManyToMany | |
Pyhin1 31 |
|
ManyToMany | |||
Ifi203 31 |
|
ManyToMany | |||
Ifi202b 31 |
|
ManyToMany | |||
Pydc3 31 |
|
ManyToMany | |||
Gm4955 31 |
|
ManyToMany | |||
AI607873 31 |
|
ManyToMany | |||
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs193920831 | Uncertain Significance: Malignant tumor of prostate | 158,941,999(+) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3587688 | CNV | loss | 21293372 |
nsv1002401 | CNV | loss | 25217958 |
nsv1007597 | CNV | loss | 25217958 |
nsv518819 | CNV | loss | 19592680 |
nsv525964 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
breast cancer |
|
|
limited scleroderma |
|
|