• Gene id: 10464

Gene Summary

• Gene Symbol: PIBF1   Gene   UCSC   Ensembl
• Aliases: C13orf24, CEP90, JBTS33, PIBF
• Gene name: progesterone immunomodulatory binding factor 1
• Alternate names: progesterone-induced-blocking factor 1, centrosomal protein of 90 kDa,
• Gene location: 13q21.33-q22.1 (72782132: 73016460)     Exons: 22     NC_000013.11
• Gene summary(Entrez): This gene encodes a protein that is induced by the steroid hormone progesterone and plays a role in the maintenance of pregnancy. The encoded protein regulates multiple facets of the immune system to promote normal pregnancy including cytokine synthesis,
• OMIM: 607532

Protein Summary

• Protein general information: Q8WXW3  
  • Name: Progesterone induced blocking factor 1 (PIBF) (Centrosomal protein of 90 kDa) (CEP90)
  • Length: 757  
  • Mass: 89805
  • Tissue specificity: Expressed at highest levels in testis. Moderate expression is detected in spleen, thymus, prostate, ovary, small intestine, and colon (PubMed
• Sequence:

  MSRKISKESKKVNISSSLESEDISLETTVPTDDISSSEEREGKVRITRQLIERKELLHNIQLLKIELSQKTMMID
  NLKVDYLTKIEELEEKLNDALHQKQLLTLRLDNQLAFQQKDASKYQELMKQEMETILLRQKQLEETNLQLREKAG
  DVRRNLRDFELTEEQYIKLKAFPEDQLSIPEYVSVRFYELVNPLRKEICELQVKKNILAEELSTNKNQLKQLTET
  YEEDRKNYSEVQIRCQRLALELADTKQLIQQGDYRQENYDKVKSERDALEQEVIELRRKHEILEASHMIQTKERS
  ELSKEVVTLEQTVTLLQKDKEYLNRQNMELSVRCAHEEDRLERLQAQLEESKKAREEMYEKYVASRDHYKTEYEN
  KLHDELEQIRLKTNQEIDQLRNASREMYERENRNLREARDNAVAEKERAVMAEKDALEKHDQLLDRYRELQLSTE
  SKVTEFLHQSKLKSFESERVQLLQEETARNLTQCQLECEKYQKKLEVLTKEFYSLQASSEKRITELQAQNSEHQA
  RLDIYEKLEKELDEIIMQTAEIENEDEAERVLFSYGYGANVPTTAKRRLKQSVHLARRVLQLEKQNSLILKDLEH
  RKDQVTQLSQELDRANSLLNQTQQPYRYLIESVRQRDSKIDSLTESIAQLEKDVSNLNKEKSALLQTKNQMALDL
  EQLLNHREELAAMKQILVKMHSKHSENSLLLTKTEPKHVTENQKSKTLNVPKEHEDNIFTPKPTLFTKKEAPEWS
  KKQKMKT

• Structural information:
  • Interpro: IPR026205  
  • DIP: 56669
  • STRING: ENSP00000317144
• Other Databases: GeneCards:  PIBF1  Malacards:  PIBF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005813	centrosome	IDA	cellular component
GO:0031393	negative regulation of prostaglandin biosynthetic process	IDA	biological process
GO:0032815	negative regulation of natural killer cell activation	IDA	biological process
GO:0005136	interleukin-4 receptor binding	IDA	molecular function
GO:0042976	activation of Janus kinase activity	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0032733	positive regulation of interleukin-10 production	IDA	biological process
GO:0032695	negative regulation of interleukin-12 production	IDA	biological process
GO:0042531	positive regulation of tyrosine phosphorylation of STAT protein	IDA	biological process
GO:0042532	negative regulation of tyrosine phosphorylation of STAT protein	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0060271	cilium assembly	IMP	biological process
GO:0007080	mitotic metaphase plate congression	IMP	biological process
GO:0090307	mitotic spindle assembly	IMP	biological process
GO:1905515	non-motile cilium assembly	IMP	biological process
GO:0071539	protein localization to centrosome	IMP	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component

Diseases

Associated diseases	References
Joubert syndrome	KEGG:H00530
Joubert syndrome	KEGG:H00530
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)