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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PIBF1
progesterone immunomodulatory binding factor 1
Chromosome 13 Β· 13q21.33-q22.1
NCBI Gene: 10464Ensembl: ENSG00000083535.17HGNC: HGNC:23352UniProt: Q8WXW3
95PubMed Papers
21Diseases
0Drugs
17Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
interleukin-4 receptor bindingprotein bindingmitotic metaphase chromosome alignmentnegative regulation of prostaglandin biosynthetic processJoubert syndrome 33Joubert syndromeAtaxiadevelopmental disability
✦AI Summary

PIBF1 (progesterone immunomodulatory binding factor 1) is a multifunctional protein with critical roles in pregnancy maintenance, immune regulation, and cellular processes. During pregnancy, PIBF1 protects against preterm labor by being expressed in decidual B cells in response to IL-33 signaling, where it maintains uterine quiescence and prevents inflammation-induced preterm birth 1. The protein is essential for trophoblast syncytialization and promotes cardiovascular development in the embryo 2. PIBF1 regulates endometrial receptivity through the IL6/STAT3 pathway, with decreased expression in mid-secretory phase associated with recurrent implantation failure 3. Beyond reproduction, PIBF1 functions as a ciliogenesis regulator, with mutations causing Joubert syndrome, a ciliopathy 4. In cancer contexts, PIBF1 displays tissue-specific effects: it acts oncogenically in triple-negative breast cancer by suppressing ATR/CHK1 signaling pathways 5, while paradoxically correlating with better prognosis in breast cancer patients receiving chemotherapy 6. The protein also modulates immune responses by suppressing natural killer cell cytotoxicity in colorectal cancer through enhancer switching mechanisms 7. These diverse functions highlight PIBF1's importance in pregnancy, development, and disease pathogenesis.

Sources cited
1
PIBF1 is expressed by decidual B cells in response to IL-33 and protects against preterm labor
PMID: 27918564
2
PIBF1 is vital for trophoblast syncytialization and promotes cardiovascular development
PMID: 38374152
3
PIBF1 regulates endometrial receptivity via IL6/STAT3 pathway and is decreased in recurrent implantation failure
PMID: 34026283
4
PIBF1 mutations cause Joubert syndrome and the protein regulates ciliogenesis
PMID: 26167768
5
PIBF1 acts oncogenically in triple-negative breast cancer by suppressing ATR/CHK1 signaling
PMID: 32529408
6
PIBF1 expression correlates with better prognosis in breast cancer patients receiving chemotherapy
PMID: 40835624
7
PIBF1 suppresses natural killer cell cytotoxicity in colorectal cancer through enhancer switching
PMID: 40854986
Disease Associationsβ“˜21
Joubert syndrome 33Open Targets
0.72Strong
Joubert syndromeOpen Targets
0.64Moderate
AtaxiaOpen Targets
0.46Moderate
cerebellar ataxiaOpen Targets
0.46Moderate
developmental disabilityOpen Targets
0.46Moderate
cephaloceleOpen Targets
0.42Moderate
genetic disorderOpen Targets
0.41Moderate
Dandy-Walker syndromeOpen Targets
0.32Weak
Abruptio PlacentaeOpen Targets
0.22Weak
COVID-19Open Targets
0.20Weak
ciliopathyOpen Targets
0.19Weak
open-angle glaucomaOpen Targets
0.19Weak
hidradenitis suppurativaOpen Targets
0.13Weak
Immunodeficiency by defective expression of HLA class 2Open Targets
0.12Weak
MHC class II deficiencyOpen Targets
0.12Weak
emphysemaOpen Targets
0.09Suggestive
cancerOpen Targets
0.07Suggestive
self-injurious ideationOpen Targets
0.07Suggestive
breast carcinomaOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.05Suggestive
Joubert syndrome 33UniProt
Pathogenic Variants17
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys)Likely pathogenic
Joubert syndrome 33|Cephalocele;Joubert syndrome 33|Dandy-Walker syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 503
NM_006346.4(PIBF1):c.2076_2100del (p.Val693fs)Likely pathogenic
Joubert syndrome 33
β˜…β˜†β˜†β˜†2024β†’ Residue 693
NM_006346.4(PIBF1):c.157C>T (p.Arg53Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 53
NM_006346.4(PIBF1):c.118C>T (p.Arg40Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 40
NM_006346.4(PIBF1):c.1731-1G>ALikely pathogenic
Joubert syndrome 33
β˜…β˜†β˜†β˜†2023
NM_006346.4(PIBF1):c.1056_1068del (p.Lys353fs)Likely pathogenic
Joubert syndrome 33|PIBF1-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 353
NM_006346.4(PIBF1):c.597_598insAAGAAAGGAATCCATTAAGAAAG (p.Glu200delinsLysLysGlyIleHisTer)Likely pathogenic
Joubert syndrome 33
β˜…β˜†β˜†β˜†2022β†’ Residue 200
NM_006346.4(PIBF1):c.1801C>T (p.Arg601Ter)Pathogenic
Joubert syndrome 33
β˜…β˜†β˜†β˜†2019β†’ Residue 601
NM_006346.4(PIBF1):c.1213C>T (p.Arg405Ter)Likely pathogenic
Joubert syndrome 33
β˜…β˜†β˜†β˜†2019β†’ Residue 405
NM_006346.4(PIBF1):c.1669del (p.Leu557fs)Likely pathogenic
Joubert syndrome
β˜…β˜†β˜†β˜†2015β†’ Residue 557
NM_006346.4(PIBF1):c.1150_1151insCAGATTGAAAACCAACCAAGAAATTGATCAGCTTCG (p.Ile384delinsThrAspTer)Likely pathogenic
Joubert syndrome 33
β˜…β˜†β˜†β˜†β†’ Residue 384
NM_006346.4(PIBF1):c.1910A>C (p.Asp637Ala)Pathogenic
Joubert syndrome 33|PIBF1-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 637
NM_006346.4(PIBF1):c.802_803del (p.Lys268fs)Likely pathogenic
PIBF1-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 268
NM_006346.4(PIBF1):c.1939del (p.Ile647fs)Pathogenic
Familial hypercholesterolemia
β˜†β˜†β˜†β˜†2022β†’ Residue 647
NM_006346.4(PIBF1):c.1453C>T (p.Gln485Ter)Pathogenic
Joubert syndrome 33
β˜†β˜†β˜†β˜†2020β†’ Residue 485
NM_006346.4(PIBF1):c.1181_1182insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA (p.Arg385_Arg396dup)Pathogenic
Joubert syndrome 33
β˜†β˜†β˜†β˜†2020β†’ Residue 385
NM_006346.4(PIBF1):c.1918A>T (p.Ile640Phe)Pathogenic
Cephalocele;Joubert syndrome 33|Dandy-Walker syndrome
β˜†β˜†β˜†β˜†2019β†’ Residue 640
View on ClinVar β†—
Related Genes
CEP63Protein interaction82%CCDC14Protein interaction75%PCNTProtein interaction73%OFD1Protein interaction73%CEP135Protein interaction73%KLF5Protein interaction72%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
88%
Heart
81%
Lung
55%
Liver
54%
Brain
39%
Gene Interaction Network
Click a node to explore
PIBF1CEP63CCDC14PCNTOFD1CEP135KLF5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8WXW3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.24LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.87 [0.63–1.24]
RankingsWhere PIBF1 stands among ~20K protein-coding genes
  • #5,051of 20,598
    Most Researched95 Β· top quartile
  • #2,336of 5,498
    Most Pathogenic Variants17
  • #13,007of 17,882
    Most Constrained (LOEUF)1.24
Genes detectedPIBF1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Decreased PIBF1/IL6/p-STAT3 during the mid-secretory phase inhibits human endometrial stromal cell proliferation and decidualization.
PMID: 34026283
J Adv Res Β· 2021
1.00
2
An siRNA-based functional genomics screen for theΒ identification of regulators of ciliogenesis and ciliopathyΒ genes.
PMID: 26167768
Nat Cell Biol Β· 2015
0.90
3
PIBF1 regulates trophoblast syncytialization and promotes cardiovascular development.
PMID: 38374152
Nat Commun Β· 2024
0.80
4
Characterization of cis-regulatory elements and functional variants in colorectal cancer using epigenomics and CRISPRi screenings.
PMID: 40854986
Nat Cancer Β· 2025
0.70
5
PIBF1 suppresses the ATR/CHK1 signaling pathway and promotes proliferation and motility of triple-negative breast cancer cells.
PMID: 32529408
Breast Cancer Res Treat Β· 2020
0.60