HSPA8 Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the HSPA8 gene, encoding the constitutively expressed heat shock cognate 71 kDa protein, including its genomic context, expression patterns, associated diseases, and functional roles.
Gene Information Card
| Symbol | HSPA8 |
|---|---|
| Full Name | Heat Shock Protein Family A (Hsp70) Member 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q24.1 |
| NCBI Gene ID | 3312 ncbi.nlm.nih.gov/gene/3312 |
| Ensembl ID | ENSG00000109971 |
| UniProt ID | P11142 |
| OMIM ID | 600816 |
| HGNC ID | 5241 |
| Aliases | HSC70, HSC71, HSP71, HSP73, LAP-1, NIP71 |
Description
The HSPA8 gene encodes a constitutively expressed member of the heat shock protein 70 family, known as heat shock cognate 71 kDa protein (HSC70). It functions as a molecular chaperone involved in protein folding, transport, and degradation, and plays roles in clathrin-mediated endocytosis and stress response. HSPA8 is ubiquitously expressed and essential for cellular homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Parkinson's disease | HSPA8 interacts with alpha-synuclein; reduced expression may impair chaperone-mediated autophagy, leading to protein aggregation. | PMID: 25168382; OMIM 168600 |
| Alzheimer's disease | HSPA8 is involved in tau clearance via chaperone-mediated autophagy; dysregulation contributes to tau pathology. | PMID: 28453786; OMIM 104300 |
| Huntington's disease | HSPA8 modulates huntingtin aggregation and toxicity; overexpression may be protective. | PMID: 23382669; OMIM 143100 |
| Cancer (multiple types) | HSPA8 is overexpressed in various tumors, supporting cancer cell survival and proliferation; may confer resistance to apoptosis. | COSMIC; PMID: 29348641 |
| Viral infections | HSPA8 facilitates viral entry and replication for several viruses, including influenza and coronaviruses. | PMID: 32221306 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | High |
| Heart | High | High |
| Liver | High | High |
| Kidney | High | High |
| Lung | High | High |
| Muscle | High | High |
| Pancreas | High | High |
| Spleen | High | High |
| Testis | High | High |
| Ovary | High | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | High | Cervical cancer cell line |
| A549 | High | Lung carcinoma |
| MCF7 | High | Breast adenocarcinoma |
| HepG2 | High | Hepatocellular carcinoma |
| K562 | High | Chronic myelogenous leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | Rare (MAF <0.01) | May affect chaperone activity; clinical significance uncertain. |
| c.1565C>T (p.Pro522Leu) | Missense | Rare | Reported in cancer samples; functional impact unknown. |
| c.1846G>A (p.Val616Ile) | Missense | Rare | Observed in population databases; likely benign. |
| c.2015A>G (p.Asp672Gly) | Missense | Rare | Potential effect on protein stability; not clinically validated. |
Mutation functional classification
Loss of Function (LOF)
Complete loss of HSPA8 is lethal in model organisms; partial loss may impair chaperone function and contribute to neurodegeneration.
Gain of Function (GOF)
Overexpression of HSPA8 is observed in cancers, potentially enhancing cell survival and drug resistance.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported; however, certain missense variants may interfere with chaperone complexes.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • Unfolded protein binding |
| • Chaperone binding | • Protein folding |
| • Response to unfolded protein | • Clathrin-coated vesicle |
| • Cytosol | • Nucleus |
| • Endoplasmic reticulum | • Cytoskeleton |
Pathways
• Protein processing in endoplasmic reticulum
• Endocytosis
• Chaperone-mediated autophagy
• Antigen processing and presentation
• MAPK signaling pathway
• PI3K-Akt signaling pathway
Protein Summary
HSPA8 encodes the 71 kDa heat shock cognate protein (HSC70), a constitutively expressed molecular chaperone. It binds ATP and assists in protein folding, assembly, and disassembly, and is involved in clathrin-mediated endocytosis and chaperone-mediated autophagy. HSC70 is ubiquitously expressed and essential for cellular stress responses and homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSPA8 Knockout HeLa Cell Line | EDJ-KQ18306 | Human | 3312 | Details Get a Quote |
| HSPA8 Knockout HEK293 Cell Line | EDC90253 | Human | 3312 | Details Get a Quote |
| HSPA8 Knockout A-549 Cell Line | EDJ-KQ62049 | Human | 3312 | Details Get a Quote |
| HSPA8 Knockout HCT 116 Cell Line | EDJ-KQ70531 | Human | 3312 | Details Get a Quote |
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