PDIA5: Protein Disulfide Isomerase Family A Member 5
A key regulator of endoplasmic reticulum stress and protein folding
Gene Information Card
| Symbol | PDIA5 |
|---|---|
| Full Name | Protein Disulfide Isomerase Family A Member 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q21.1 |
| NCBI Gene ID | 10954 ncbi.nlm.nih.gov/gene/10954 |
| Ensembl ID | ENSG00000114770 |
| UniProt ID | Q14554 |
| OMIM ID | 608012 |
| HGNC ID | 24811 |
| Aliases | PDI, PDIR, ERP29, ERp29 |
Description
PDIA5 encodes a member of the protein disulfide isomerase (PDI) family, which catalyzes the formation, reduction, and isomerization of disulfide bonds in the endoplasmic reticulum. It plays a critical role in protein folding and the unfolded protein response (UPR), particularly under ER stress conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | PDIA5 overexpression promotes tumor cell survival by attenuating ER stress-induced apoptosis | PMID: 25609812 |
| Neurodegenerative disorders | Dysregulation of PDIA5 contributes to protein misfolding and ER stress in neuronal cells | PMID: 28753425 |
| Diabetes | PDIA5 modulates insulin secretion and beta-cell survival via ER stress pathways | PMID: 30352997 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Pancreas | 10.8 | Medium |
| Kidney | 9.2 | Medium |
| Brain | 6.1 | Low |
| Heart | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.3 | Hepatocellular carcinoma |
| HeLa | 11.7 | Cervical cancer |
| HEK293 | 9.8 | Embryonic kidney |
| MCF7 | 8.5 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.01% | Altered catalytic activity |
| c.452A>G (p.Asn151Ser) | Missense | 0.005% | Reduced chaperone function |
| c.788_789del (p.Leu263fs) | Frameshift | <0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, impairing disulfide isomerase activity.
Gain of Function (GOF)
Not well characterized; some missense variants may enhance ER stress resistance.
Dominant Negative (DN)
Not reported for PDIA5.
View complete mutation data：
Gene Ontology (GO)
| • protein disulfide isomerase activity | • endoplasmic reticulum lumen |
| • protein folding | • response to endoplasmic reticulum stress |
| • chaperone binding |
Pathways
• Unfolded Protein Response (UPR)
• Endoplasmic Reticulum Stress Pathway
• Protein Processing in Endoplasmic Reticulum
Protein Summary
PDIA5 is a 519-amino acid protein localized to the endoplasmic reticulum lumen. It contains two thioredoxin-like domains (a and a') with active site CGHC motifs, enabling it to catalyze disulfide bond rearrangement. PDIA5 is upregulated under ER stress and interacts with ER chaperones to mitigate protein misfolding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDIA5 Knockout HEK293 Cell Line | EDJ-KQ2235 | Human | 10954 | Details Get a Quote |
| PDIA5 Knockout A-549 Cell Line | EDJ-KQ22524 | Human | 10954 | Details Get a Quote |
| PDIA5 Knockout HCT 116 Cell Line | EDJ-KQ22525 | Human | 10954 | Details Get a Quote |
| PDIA5 Knockout HeLa Cell Line | EDJ-KQ22526 | Human | 10954 | Details Get a Quote |
