Gene Gene information from NCBI Gene database.
Entrez ID 149628
Gene name Pyrin and HIN domain family member 1
Gene symbol PYHIN1
Synonyms (NCBI Gene)
IFIX
Chromosome 1
Chromosome location 1q23.1
Summary 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 i
miRNA miRNA information provided by mirtarbase database.
97
miRTarBase ID miRNA Experiments Reference
MIRT509223 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT509222 hsa-miR-205-3p HITS-CLIP 21572407
MIRT509221 hsa-miR-190a-3p HITS-CLIP 21572407
MIRT509220 hsa-miR-1277-5p HITS-CLIP 21572407
MIRT509223 hsa-miR-5011-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0002218 Process Activation of innate immune response IBA
GO:0002218 Process Activation of innate immune response IEA
GO:0003690 Function Double-stranded DNA binding IBA
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612677 28894 ENSG00000163564
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6K0P9
Protein name Pyrin and HIN domain-containing protein 1 (Interferon-inducible protein X)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02758 PYRIN 8 80 PAAD/DAPIN/Pyrin domain Domain
PF02760 HIN 211 379 HIN-200/IF120x domain Family
Tissue specificity 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. {ECO:0000269|PubMed:15122330}.
Sequence
MANNYKKIVLLKGLEVINDYHFRIVKSLLSNDLKLNPKMKEEYDKIQIADLMEEKFPGDA
GLGKLIEFFKEIPTLGDLAE
TLKREKLKVANKIESIPVKGIIPSKKTKQKEVYPATPACT
PSNRLTAKGAEETLGPQKRKKPSEEETGTKRSKMSKEQTRPSCSAGASTSTAMGRSPPPQ
TSSSAPPNTSSTESLKPLANRHATASKNIFREDPIIAMVLNATKVFKYESSENEQRRMFH
ATVATQTQFFHVKVLNINLKRKFIKKRIIIISNYSKRNSLLEVNEASSVSEAGPDQTFEV
PKDIIRRAKKIPKINILHKQTSGYIVYGLFMLHTKIVNRKTTIYEIQDKTGSMAVVGKGE
CHNIPCEKGDKLRLFCFRL
RKRENMSKLMSEMHSFIQIQKNTNQRSHDSRSMALPQEQSQ
HPKPSEASTTLPESHLKTPQMPPTTPSSSSFTKKDETHPGAQSSPANFRITSPTVAPPLS
SDTSTNRHPAVP
Sequence length 492
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Prostate cancer Uncertain significance rs193920831 RCV000149390
PYHIN1-related disorder Uncertain significance; Benign rs201546012, rs139161219 RCV003901726
RCV003921960
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Asthma Associate 25895113
Breast Neoplasms Inhibit 16479015, 34599264
Carcinogenesis Associate 16479015
Colitis Ulcerative Stimulate 36165492
Inflammatory Bowel Diseases Associate 25895113
Mouth Neoplasms Associate 34599264
Neoplasms Inhibit 34599264
Squamous Cell Carcinoma of Head and Neck Inhibit 34599264
Tuberculosis Associate 31843671