PFDN5
Prefoldin Subunit 5
Gene Information Card
| Symbol | PFDN5 |
|---|---|
| Full Name | Prefoldin Subunit 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 5204 ncbi.nlm.nih.gov/gene/5204 |
| Ensembl ID | ENSG00000123349 |
| UniProt ID | Q99471 |
| OMIM ID | 604899 |
| HGNC ID | 8869 |
| Aliases | MM-1, PFD5, c-Myc-binding protein |
Description
PFDN5 (Prefoldin Subunit 5) encodes a subunit of the prefoldin complex, a molecular chaperone that assists in the folding of nascent polypeptides, particularly actin and tubulin. The protein also functions as a c-Myc-binding protein (MM-1) and can repress c-Myc transcriptional activity. PFDN5 is involved in cell cycle regulation, apoptosis, and tumor suppression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of PFDN5 expression may reduce c-Myc repression, promoting oncogenesis | ClinVar, COSMIC |
| Colorectal cancer | Somatic mutations and altered expression linked to tumor progression | COSMIC |
| Prostate cancer | Downregulation associated with aggressive disease | NCBI Gene, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 32.5 | High |
| Brain | 18.2 | Medium |
| Heart | 15.1 | Medium |
| Liver | 10.3 | Low |
| Lung | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 45.2 | High expression |
| HeLa | 38.1 | High expression |
| MCF7 | 22.4 | Medium expression |
| A549 | 15.6 | Medium expression |
| HepG2 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96Gln) | Missense | 0.02% (gnomAD) | Unknown functional impact |
| c.421C>T (p.Arg141Trp) | Missense | 0.01% (gnomAD) | Potential loss of c-Myc binding |
| c.1A>G (p.Met1Val) | Start loss | Rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Val) likely abolish protein production, reducing chaperone activity and c-Myc repression.
Gain of Function (GOF)
No documented gain-of-function mutations in PFDN5.
Dominant Negative (DN)
Missense mutations in the prefoldin domain may disrupt complex assembly, potentially acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • protein folding (GO:0006457) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • protein binding (GO:0005515) |
| • transcription corepressor activity (GO:0003714) |
Pathways
• Prefoldin mediated transfer of substrate to CCT/TriC
• c-Myc transcription factor network
Protein Summary
Prefoldin subunit 5 is a 17 kDa protein that forms part of the heterohexameric prefoldin complex. It contains a prefoldin domain and interacts with cytosolic chaperonin (CCT) to facilitate actin and tubulin folding. Additionally, PFDN5 binds to the N-terminal region of c-Myc, repressing its transcriptional activity and inhibiting cell proliferation. The protein is widely expressed, with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PFDN5 Knockout HEK293 Cell Line | EDJ-KQ5445 | Human | 5204 | Details Get a Quote |
| PFDN5 Knockout HCT 116 Cell Line | EDJ-KQ28631 | Human | 5204 | Details Get a Quote |
| PFDN5 Knockout HeLa Cell Line | EDJ-KQ28632 | Human | 5204 | Details Get a Quote |
| PFDN5 Knockout A-549 Cell Line | EDJ-KQ62611 | Human | 5204 | Details Get a Quote |
