PIBF1

Gene Information
 
Gene Symbol
PIBF1
 
Aliases
C13orf24, CEP90, JBTS33, PIBF
 
Entrez Gene ID
 
Gene Name
Progesterone immunomodulatory binding factor 1
 
Chromosomal Location
13q21.33-q22.1
 
HGNC ID
 
Summary
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, natural killer (NK) cell activity, and arachidonic acid metabolism. Low serum levels of this protein have been associated with spontaneous pre-term labor in humans. This protein may promote the proliferation, migration and invasion of glioma. [provided by RefSeq, Mar 2017]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0007080 Biological process Mitotic metaphase plate congression IMP 21224392
GO:0031393 Biological process Negative regulation of prostaglandin biosynthetic process IDA 3863495
GO:0032695 Biological process Negative regulation of interleukin-12 production IDA 14634107
GO:0032733 Biological process Positive regulation of interleukin-10 production IDA 14634107
GO:0032815 Biological process Negative regulation of natural killer cell activation IDA 12516630
Protein Information
 
Protein Name
Progesterone-induced-blocking factor 1, centrosomal protein of 90 kDa
 
Function
Plays a role in ciliogenesis. .; [Isoform 1]: Pericentriolar protein required to maintain mitotic spindle pole integrity (PubMed:21224392). Required for the centrosomal accumulation of PCM1 and the recruitment of centriolar satellite proteins such as BBS4. Via association with PCM1 may be involved in primary cilia formation (PubMed:23110211). Required for CEP63 centrosomal localization and its interaction with WDR62. Together with CEP63 promotes centriole duplication. Promotes the centrosomal localization of CDK2 (PubMed:26297806). .; [Isoform 4]: The secreted form is a mediator of progesterone that by acting on the phospholipase A2 enzyme interferes with arachidonic acid metabolism, induces a Th2 biased immune response, and by controlling decidual naturakl killer cells (NK) activity exerts an anti-abortive effect (PubMed:14634107, PubMed:3863495, PubMed:12516630). Increases the production of Th2-type cytokines by signaling via the JAK/STAT pathway. Activates STAT6 and inhibits STAT4 phosphorylation. Signaling via a not identified receptor seems to implicate IL4R and a GPI-anchored protein (PubMed:16393965, PubMed:25218441).
 
Refseq Proteins
 
UniProt
Interactions
 
STRING MINT IntAct
ENSP00000361965 P00813
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Joubert Syndrome
Endocrine System Diseases
PCOS
Eye Diseases
Familial aplasia of the vermis
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
PCOS 
 
 
Related 
26 (10 infertile PCO, 10 infertile normal, 6 fertile normal) 
Women with PCO had significantly lower levels of progesterone in the early luteal phase than fertile women with normal ovaries. 

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