PAFAH1B3
Platelet Activating Factor Acetylhydrolase 1b Catalytic Subunit 3
Gene Information Card
| Symbol | PAFAH1B3 |
|---|---|
| Full Name | Platelet Activating Factor Acetylhydrolase 1b Catalytic Subunit 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 5050 ncbi.nlm.nih.gov/gene/5050 |
| Ensembl ID | ENSG00000105641 |
| UniProt ID | Q15102 |
| OMIM ID | 603074 |
| HGNC ID | 8576 |
| Aliases | PAFAHG, LIS1-associated protein, PAFAH1B3 |
Description
PAFAH1B3 encodes the gamma catalytic subunit of platelet-activating factor acetylhydrolase (PAF-AH) isoform 1b. This enzyme inactivates platelet-activating factor (PAF) by removing the acetyl group at the sn-2 position. The protein forms a complex with the regulatory beta subunit (PAFAH1B2) and the LIS1 protein (PAFAH1B1), which is critical for neuronal migration and brain development. PAFAH1B3 is widely expressed and implicated in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lissencephaly (indirect) | PAFAH1B3 is part of the LIS1 complex; disruption of complex integrity impairs neuronal migration | OMIM #607432 |
| Colorectal cancer | Overexpression of PAFAH1B3 promotes cell proliferation and invasion | COSMIC, PubMed: 31073015 |
| Hepatocellular carcinoma | Upregulation correlates with poor prognosis and metastasis | PubMed: 31525678 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| HeLa | 12.1 | Medium expression |
| HepG2 | 9.8 | Low expression |
| A549 | 11.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | 0.0004 | Unknown functional effect |
| c.458G>A (p.Arg153His) | Missense | 0.0002 | Unknown functional effect |
| c.1A>G (p.Met1Val) | Start loss | 0.0001 | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Val) likely abolish protein translation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • 1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847) | • lipid metabolic process (GO:0006629) |
| • cytoplasm (GO:0005737) | • nucleus (GO:0005634) |
Pathways
• Platelet activation and degranulation (Reactome: R-HSA-76002)
• PAF catabolism (Reactome: R-HSA-1482922)
Protein Summary
PAFAH1B3 is a 231-amino acid protein (26 kDa) that functions as the catalytic gamma subunit of PAF-AH 1b. It hydrolyzes the sn-2 acetyl group of platelet-activating factor, producing inactive lyso-PAF. The protein interacts with PAFAH1B2 and PAFAH1B1 (LIS1) to form a heterotrimeric complex essential for proper neuronal migration. Mutations or dysregulation of PAFAH1B3 are linked to lissencephaly spectrum disorders and multiple cancer types.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PAFAH1B3 Knockout HEK293 Cell Line | EDJ-KQ2002 | Human | 5050 | Details Get a Quote |
| PAFAH1B3 Knockout HCT 116 Cell Line | EDJ-KQ22011 | Human | 5050 | Details Get a Quote |
| PAFAH1B3 Knockout HeLa Cell Line | EDJ-KQ22012 | Human | 5050 | Details Get a Quote |
| PAFAH1B3 Knockout A-549 Cell Line | EDJ-KQ20710 | Human | 5050 | Details Get a Quote |
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