PFDN4
Prefoldin Subunit 4: A Molecular Chaperone Involved in Protein Folding and Cytoskeletal Dynamics
Gene Information Card
| Symbol | PFDN4 |
|---|---|
| Full Name | Prefoldin Subunit 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.12 |
| NCBI Gene ID | 5203 ncbi.nlm.nih.gov/gene/5203 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9NQP4 |
| OMIM ID | 610180 |
| HGNC ID | 8867 |
| Aliases | PFD4, C1orf107 |
Description
PFDN4 encodes prefoldin subunit 4, a component of the prefoldin complex that acts as a molecular chaperone. This complex binds and stabilizes newly synthesized polypeptides, facilitating their transfer to the cytosolic chaperonin TRiC/CCT for proper folding. PFDN4 is involved in the biogenesis of actin and tubulin, thereby playing a critical role in cytoskeletal organization and cell division.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | Altered prefoldin function may impair photoreceptor protein folding and ciliary transport; PFDN4 mutations linked to retinal degeneration | ClinVar; OMIM |
| Cancer (various) | Dysregulation of PFDN4 expression affects cell cycle and cytoskeletal dynamics; overexpression observed in some tumors | COSMIC; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney; moderate expression |
| HeLa | 8.7 | Cervical carcinoma; moderate expression |
| K562 | 6.3 | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Unknown; reported in retinitis pigmentosa |
| c.418G>A (p.Gly140Arg) | Missense | <0.01% | Unknown; reported in retinitis pigmentosa |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in PFDN4 may impair prefoldin complex assembly or chaperone activity, leading to defective protein folding and cytoskeletal abnormalities.
Gain of Function (GOF)
No evidence of gain-of-function mutations in PFDN4.
Dominant Negative (DN)
Potential dominant-negative effects if mutant subunits disrupt prefoldin complex function, but not confirmed.
View complete mutation data：
Gene Ontology (GO)
| • protein folding | • chaperone cofactor-dependent protein refolding |
| • cytoskeleton organization | • tubulin complex assembly |
| • actin filament organization |
Pathways
• Prefoldin mediated transfer of substrate to CCT/TriC
• Chaperonin-mediated protein folding
Protein Summary
Prefoldin subunit 4 is a 134-amino acid protein that forms part of the heterohexameric prefoldin complex. It contains a coiled-coil domain and interacts with other prefoldin subunits to create a jellyfish-like structure that captures unfolded proteins. PFDN4 is essential for the proper folding of cytoskeletal proteins, particularly actin and tubulin, and is highly conserved across eukaryotes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PFDN4 Knockout HEK293 Cell Line | EDJ-KQ50510 | Human | 5203 | Details Get a Quote |
| PFDN4 Knockout HeLa Cell Line | EDJ-KQ54122 | Human | 5203 | Details Get a Quote |
| PFDN4 Knockout A-549 Cell Line | EDJ-KQ62610 | Human | 5203 | Details Get a Quote |
| PFDN4 Knockout HCT 116 Cell Line | EDJ-KQ71084 | Human | 5203 | Details Get a Quote |
