PEBP1
Phosphatidylethanolamine Binding Protein 1
Gene Information Card
| Symbol | PEBP1 |
|---|---|
| Full Name | Phosphatidylethanolamine Binding Protein 1 |
| Gene Type | protein coding |
| Chromosomal Location | 12q24.23 |
| NCBI Gene ID | 5037 ncbi.nlm.nih.gov/gene/5037 |
| Ensembl ID | ENSG00000139220 |
| UniProt ID | P30086 |
| OMIM ID | 602443 |
| HGNC ID | 8630 |
| Aliases | RKIP, PBP, HCNP, HEL-210, HEL-S-34, prostatic binding protein |
Description
PEBP1 encodes phosphatidylethanolamine binding protein 1, also known as Raf kinase inhibitory protein (RKIP). It functions as a negative regulator of the MAPK/ERK signaling cascade by binding to Raf-1 and inhibiting its activation. Additionally, PEBP1 modulates G protein-coupled receptor signaling and has roles in spermatogenesis, neuroprotection, and metastasis suppression. The protein is widely expressed, with highest levels in brain, testis, and prostate.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Loss of RKIP expression leads to increased MAPK signaling and metastasis | PMID: 15626733, PMID: 20593214 |
| Alzheimer disease | PEBP1 interacts with tau and amyloid-beta; altered expression in affected brain regions | PMID: 17088211, PMID: 23382115 |
| Major depressive disorder | Reduced PEBP1 levels in prefrontal cortex associated with depressive symptoms | PMID: 20074512 |
| Male infertility | PEBP1 is essential for sperm maturation and motility | PMID: 11751933 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.6 | High |
| Testis | 22.3 | High |
| Prostate | 18.7 | Medium |
| Heart | 12.1 | Medium |
| Liver | 8.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 25.0 | High expression |
| HeLa | 20.5 | Moderate expression |
| MCF7 | 15.3 | Moderate expression |
| A549 | 12.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287C>T (p.Ser96Phe) | Missense | <0.01% | Reduced Raf-1 binding; loss of inhibitory function |
| c.374G>A (p.Arg125His) | Missense | <0.01% | Impaired protein stability; associated with cancer |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., Ser96Phe) reduce RKIP binding to Raf-1, leading to constitutive MAPK activation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylethanolamine binding | • Raf kinase inhibitor activity |
| • MAPK cascade negative regulation | • spermatogenesis |
| • nervous system development |
Pathways
• MAPK signaling pathway (negative regulation)
• G protein-coupled receptor signaling
• ERK cascade
Protein Summary
PEBP1 is a 187-amino acid protein (21 kDa) that adopts a beta-sandwich fold with a conserved ligand-binding pocket. It binds phosphatidylethanolamine and inhibits Raf-1 kinase activity, thereby suppressing the MAPK/ERK pathway. The protein also functions as a precursor of hippocampal cholinergic neurostimulating peptide (HCNP) and is involved in acetylcholine synthesis. Post-translational modifications include phosphorylation at Ser96, which modulates its inhibitory activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PEBP1 Knockout HEK293 Cell Line | EDC07757 | Human | 5037 | Details Get a Quote |
| PEBP1 Knockout A-549 Cell Line | EDC08295 | Human | 5037 | Details Get a Quote |
| PEBP1 Knockout HCT 116 Cell Line | EDJ-KQ24662 | Human | 5037 | Details Get a Quote |
| PEBP1 Knockout HeLa Cell Line | EDJ-KQ24663 | Human | 5037 | Details Get a Quote |
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