PFDN1
Prefoldin Subunit 1
Gene Information Card
| Symbol | PFDN1 |
|---|---|
| Full Name | Prefoldin Subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 5201 ncbi.nlm.nih.gov/gene/5201 |
| Ensembl ID | ENSG00000113522 |
| UniProt ID | O60925 |
| OMIM ID | 604897 |
| HGNC ID | 8866 |
| Aliases | PFD1, prefoldin 1 |
Description
PFDN1 encodes a subunit of the prefoldin complex, a molecular chaperone that binds and stabilizes newly synthesized polypeptides, facilitating their transfer to the cytosolic chaperonin TRiC/CCT for proper folding. The prefoldin complex is essential for the correct folding of actin and tubulin, and PFDN1 dysfunction is implicated in cancer progression and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression of PFDN1 promotes cell proliferation and metastasis via enhanced protein folding and stabilization of oncogenic proteins. | COSMIC, NCBI |
| Neurodegenerative disorders | Impaired prefoldin function leads to accumulation of misfolded proteins and cellular stress. | UniProt, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.8 | Medium |
| Heart | 8.5 | Low |
| Liver | 6.3 | Low |
| Kidney | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.4 | Embryonic kidney cells |
| HeLa | 11.0 | Cervical cancer cells |
| K562 | 9.8 | Leukemia cells |
| A549 | 8.2 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214G>A (p.Gly72Arg) | Missense | 0.01% | Unknown functional impact |
| c.341C>T (p.Pro114Leu) | Missense | 0.005% | Potential loss of chaperone activity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations may impair prefoldin complex assembly or substrate binding.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein folding | • chaperone cofactor-dependent protein refolding |
| • cytoskeleton organization | • tubulin complex assembly |
Pathways
• Prefoldin mediated transfer of substrate to CCT/TriC
• Protein folding and processing in endoplasmic reticulum
Protein Summary
Prefoldin subunit 1 is a 14 kDa protein that forms part of the heterohexameric prefoldin complex. It contains a coiled-coil domain that mediates interactions with other subunits and with unfolded polypeptides. The protein is localized in the cytoplasm and nucleus, and its expression is upregulated in various cancers.
Related Services
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|---|---|---|---|---|
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