HSPA6: Heat Shock Protein Family A (Hsp70) Member 6
A stress-inducible member of the Hsp70 chaperone family involved in protein folding and cytoprotection.
Gene Information Card
| Symbol | HSPA6 |
|---|---|
| Full Name | Heat Shock Protein Family A (Hsp70) Member 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 3310 ncbi.nlm.nih.gov/gene/3310 |
| Ensembl ID | ENSG00000173110 |
| UniProt ID | P17066 |
| OMIM ID | 140555 |
| HGNC ID | 5238 |
| Aliases | HSP70B' |
Description
HSPA6 encodes a 70 kDa heat shock protein (Hsp70B') that is strongly induced by heat shock and other cellular stresses. It functions as a molecular chaperone, assisting in protein folding, assembly, and protection against aggregation. Unlike the constitutive Hsp70 (HSPA8), HSPA6 is expressed at very low levels under normal conditions but is rapidly upregulated upon stress. It is localized to the cytoplasm and nucleus and interacts with co-chaperones to facilitate protein homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegenerative disorders (e.g., Alzheimer's, Parkinson's) | HSPA6 upregulation may protect against protein aggregation; dysregulation linked to impaired proteostasis. | PMID: 25664836; PMID: 30321596 |
| Cancer (various types) | Overexpression in certain tumors may promote cell survival under stress; potential role in chemoresistance. | PMID: 29127120; PMID: 31474352 |
| Heat stroke / hyperthermia | Induced by thermal stress; protective role in cellular thermotolerance. | PMID: 12665516 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.4 | Low |
| Brain (cortex) | 0.2 | Low |
| Heart | 0.1 | Low |
| Liver | 0.1 | Low |
| Kidney | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.5 | Induced upon heat shock |
| HEK293 | 0.3 | Low basal; strongly induced by stress |
| SH-SY5Y | 0.2 | Upregulated in response to proteotoxic stress |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense / start loss | <0.01% (gnomAD) | Likely loss of function; no known disease association |
| c.103C>T (p.Arg35Cys) | Missense | <0.01% (gnomAD) | Unknown significance; not reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in disease; start-loss variant may reduce protein expression.
Gain of Function (GOF)
Not described.
Dominant Negative (DN)
Not described.
View complete mutation data:
Gene Ontology (GO)
| • ATP binding (GO:0005524) | • unfolded protein binding (GO:0051082) |
| • protein folding (GO:0006457) | • response to heat (GO:0009408) |
| • cellular response to heat (GO:0034605) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) |
Pathways
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
• Heat shock response (Reactome: R-HSA-3371556)
• Chaperone-mediated protein folding (Reactome: R-HSA-390466)
Protein Summary
HSPA6 (Hsp70B') is a 70 kDa heat-inducible chaperone protein. It contains an N-terminal ATPase domain and a C-terminal substrate-binding domain. Under stress, it binds exposed hydrophobic patches on misfolded proteins, preventing aggregation and facilitating refolding. It is part of the Hsp70 family and works with co-chaperones such as Hsp40 and nucleotide exchange factors. Its expression is tightly regulated by heat shock factor 1 (HSF1).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSPA6 Knockout HEK293 Cell Line | EDJ-KQ673 | Human | 3310 | Details Get a Quote |
| HSPA6 Knockout HeLa Cell Line | EDJ-KQ53581 | Human | 3310 | Details Get a Quote |
| HSPA6 Knockout A-549 Cell Line | EDJ-KQ62048 | Human | 3310 | Details Get a Quote |
| HSPA6 Knockout HCT 116 Cell Line | EDJ-KQ70530 | Human | 3310 | Details Get a Quote |