PIBF1
Progesterone immunomodulatory binding factor 1
Gene Information Card
| Symbol | PIBF1 |
|---|---|
| Full Name | progesterone immunomodulatory binding factor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q22.1 |
| NCBI Gene ID | 10464 ncbi.nlm.nih.gov/gene/10464 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | Q8WXW3 |
| OMIM ID | 607532 |
| HGNC ID | 23317 |
| Aliases | PIBF, C13orf24 |
Description
PIBF1 encodes a protein that binds progesterone and modulates immune responses, particularly during pregnancy. It is involved in the regulation of natural killer (NK) cell activity and cytokine production. The gene is located on chromosome 13q22.1 and is expressed in various tissues including placenta, endometrium, and immune cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Recurrent pregnancy loss | Altered PIBF1 expression may impair progesterone-mediated immunomodulation, leading to inadequate maternal-fetal immune tolerance | PMID: 17947238 |
| Endometriosis | Reduced PIBF1 levels in endometriotic lesions may contribute to local inflammation and impaired progesterone signaling | PMID: 21729881 |
| Cervical cancer | PIBF1 overexpression is associated with tumor progression and immune evasion | PMID: 25633834 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 45.2 | High |
| Endometrium | 28.7 | Medium |
| Lymph node | 15.3 | Medium |
| Spleen | 12.1 | Medium |
| Ovary | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.5 | Cervical cancer cell line |
| JEG-3 | 41.0 | Choriocarcinoma cell line |
| MCF-7 | 18.2 | Breast cancer cell line |
| K-562 | 22.4 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | missense | 0.01% (gnomAD) | Unknown functional impact |
| c.1567G>A (p.Val523Ile) | missense | 0.005% (gnomAD) | Likely benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • progesterone binding | • immune response |
| • regulation of cytokine production | • negative regulation of natural killer cell activity |
Pathways
• Progesterone-mediated oocyte maturation
• Immune system signaling
Protein Summary
The PIBF1 protein (1044 amino acids) contains a progesterone-binding domain and is primarily localized in the cytoplasm. It modulates immune responses by inhibiting NK cell cytotoxicity and promoting a Th2 cytokine profile. The protein is also implicated in cell cycle regulation and tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIBF1 Knockout HEK293 Cell Line | EDJ-KQ7053 | Human | 10464 | Details Get a Quote |
| PIBF1 Knockout A-549 Cell Line | EDJ-KQ31841 | Human | 10464 | Details Get a Quote |
| PIBF1 Knockout HCT 116 Cell Line | EDJ-KQ31842 | Human | 10464 | Details Get a Quote |
| PIBF1 Knockout HeLa Cell Line | EDJ-KQ31843 | Human | 10464 | Details Get a Quote |
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