PDAP1: PDGFA-Associated Protein 1
A comprehensive resource for PDAP1 gene information, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | PDAP1 |
|---|---|
| Full Name | PDGFA associated protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 11333 ncbi.nlm.nih.gov/gene/11333 |
| Ensembl ID | ENSG00000106211 |
| UniProt ID | Q13442 |
| OMIM ID | 607075 |
| HGNC ID | 8630 |
| Aliases | HASPP28, PAP, PDGFA-associated protein 1 |
Description
PDAP1 (PDGFA associated protein 1) is a protein-coding gene located on chromosome 7q22.1. It encodes a 28 kDa protein that interacts with platelet-derived growth factor A (PDGFA) and may modulate PDGFA signaling. PDAP1 is involved in cell growth regulation and has been implicated in various cancers, including breast and ovarian cancer. The gene is widely expressed in normal tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | PDAP1 overexpression may promote cell proliferation via PDGFA pathway modulation | PMID: 20628086 |
| Ovarian cancer | Altered PDAP1 expression associated with tumor progression | PMID: 21804531 |
| Glioma | PDAP1 upregulation linked to poor prognosis | PMID: 25485619 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 15.2 | Medium |
| Lung | 10.1 | Medium |
| Kidney | 9.8 | Low |
| Testis | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.3 | Embryonic kidney cells |
| HeLa | 11.2 | Cervical cancer cells |
| MCF7 | 16.8 | Breast cancer cells |
| A549 | 9.5 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.01% | p.Met1Val; potential loss of start codon |
| c.214C>T | Nonsense | 0.005% | p.Gln72*; premature truncation |
| c.345G>A | Missense | 0.02% | p.Val115Met; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Gln72*) likely lead to loss of function via nonsense-mediated decay.
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)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) | • identical protein binding (GO:0042802) |
| • negative regulation of apoptotic process (GO:0043066) |
Pathways
• PDGF signaling pathway
• PI3K-Akt signaling pathway
Protein Summary
PDAP1 is a 28 kDa cytoplasmic protein that binds to PDGFA and modulates its mitogenic activity. It is involved in cell growth regulation and apoptosis. The protein is expressed in multiple tissues and is implicated in cancer progression, particularly in breast and ovarian cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDAP1 Knockout HEK293 Cell Line | EDJ-KQ51064 | Human | 11333 | Details Get a Quote |
| PDAP1 Knockout HeLa Cell Line | EDJ-KQ55633 | Human | 11333 | Details Get a Quote |
| PDAP1 Knockout A-549 Cell Line | EDJ-KQ64131 | Human | 11333 | Details Get a Quote |
| PDAP1 Knockout HCT 116 Cell Line | EDJ-KQ72576 | Human | 11333 | Details Get a Quote |
