• Gene id: 149628

Gene Summary

• Gene Symbol: PYHIN1   Gene   UCSC   Ensembl
• Aliases: IFIX
• Gene name: pyrin and HIN domain family member 1
• Alternate names: pyrin and HIN domain-containing protein 1, interferon-inducible protein X,
• Gene location: 1q23.1 (158931546: 158990908)     Exons: 13     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 605161

Protein Summary

• Protein general information: Q6K0P9  
  • Name: Pyrin and HIN domain containing protein 1 (Interferon inducible protein X)
  • Length: 492  
  • Mass: 55065
  • 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
• Sequence:

  MANNYKKIVLLKGLEVINDYHFRIVKSLLSNDLKLNPKMKEEYDKIQIADLMEEKFPGDAGLGKLIEFFKEIPTL
  GDLAETLKREKLKVANKIESIPVKGIIPSKKTKQKEVYPATPACTPSNRLTAKGAEETLGPQKRKKPSEEETGTK
  RSKMSKEQTRPSCSAGASTSTAMGRSPPPQTSSSAPPNTSSTESLKPLANRHATASKNIFREDPIIAMVLNATKV
  FKYESSENEQRRMFHATVATQTQFFHVKVLNINLKRKFIKKRIIIISNYSKRNSLLEVNEASSVSEAGPDQTFEV
  PKDIIRRAKKIPKINILHKQTSGYIVYGLFMLHTKIVNRKTTIYEIQDKTGSMAVVGKGECHNIPCEKGDKLRLF
  CFRLRKRENMSKLMSEMHSFIQIQKNTNQRSHDSRSMALPQEQSQHPKPSEASTTLPESHLKTPQMPPTTPSSSS
  FTKKDETHPGAQSSPANFRITSPTVAPPLSSDTSTNRHPAVP

• Structural information:
  • Protein Domains: (1..8-)
    (/note="Pyrin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00061-)
    (199..39-)
    (/note="HIN-200-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00106"-)
  • Interpro: IPR004020  IPR040205  IPR004021  
  • Prosite: PS50824 PS50834
  • STRING: ENSP00000357122
• Other Databases: GeneCards:  PYHIN1  Malacards:  PYHIN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035458	cellular response to interferon-beta	IBA	biological process
GO:0032731	positive regulation of interleukin-1 beta production	IBA	biological process
GO:0002218	activation of innate immune response	IBA	biological process
GO:0005730	nucleolus	IBA	cellular component
GO:0003690	double-stranded DNA binding	IBA	molecular function
GO:0002218	activation of innate immune response	IEA	biological process
GO:0035458	cellular response to interferon-beta	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:2000060	positive regulation of ubiquitin-dependent protein catabolic process	IDA	biological process
GO:1900182	positive regulation of protein localization to nucleus	IDA	biological process
GO:1902164	positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0043388	positive regulation of DNA binding	IDA	biological process
GO:0050821	protein stabilization	IMP	biological process
GO:0031648	protein destabilization	IMP	biological process
GO:0035457	cellular response to interferon-alpha	IMP	biological process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:2000060	positive regulation of ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0032991	protein-containing complex	IMP	cellular component
GO:0031648	protein destabilization	IMP	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq