HSPH1 (Heat Shock Protein Family H (Hsp110) Member 1)
A molecular chaperone involved in protein homeostasis, stress response, and cancer progression.
Gene Information Card
| Symbol | HSPH1 |
|---|---|
| Full Name | Heat Shock Protein Family H (Hsp110) Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q12.3 |
| NCBI Gene ID | 10808 ncbi.nlm.nih.gov/gene/10808 |
| Ensembl ID | ENSG00000120694 |
| UniProt ID | Q92598 |
| OMIM ID | 610703 |
| HGNC ID | 5240 |
| Aliases | HSP110, HSP105, HSPH1, NY-CO-25 |
Description
HSPH1 encodes a member of the Hsp110 family of molecular chaperones. The protein functions as a nucleotide exchange factor for Hsp70 chaperones, playing a critical role in protein folding, refolding of denatured proteins, and protection against cellular stress. It is involved in thermotolerance, protein homeostasis, and regulation of apoptosis. Overexpression is observed in various cancers and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | HSPH1 overexpression promotes tumor cell survival and chemoresistance by inhibiting apoptosis and enhancing protein refolding under stress. | PMID: 23455478; COSMIC |
| Breast Cancer | Elevated HSPH1 expression correlates with poor prognosis; chaperone activity supports oncogenic signaling and metastasis. | PMID: 25642768; COSMIC |
| Alzheimer's Disease | HSPH1 interacts with tau and amyloid-beta aggregates; may modulate protein aggregation and neurotoxicity. | PMID: 21504875; UniProt |
| Huntington's Disease | HSPH1 co-localizes with mutant huntingtin aggregates; potential role in aggregate clearance or stabilization. | PMID: 16945930; UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Brain | 35.1 | Medium |
| Heart | 28.7 | Medium |
| Liver | 22.4 | Medium |
| Lung | 18.9 | Medium |
| Kidney | 16.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 42.5 | Cervical cancer cell line; high expression |
| MCF7 | 38.1 | Breast cancer cell line; elevated |
| A549 | 35.6 | Lung cancer cell line; moderate |
| HEK293 | 30.2 | Embryonic kidney; moderate |
| K562 | 25.8 | Leukemia cell line; moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1552C>T (p.Arg518Cys) | Missense | <0.01% | Unknown; rare variant in population databases |
| c.2144G>A (p.Arg715His) | Missense | <0.01% | Unknown; rare variant |
| c.1129A>G (p.Thr377Ala) | Missense | <0.01% | Unknown; rare variant |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in HSPH1; experimental knockdown reduces chaperone activity and stress tolerance.
Gain of Function (GOF)
Overexpression in cancers suggests potential gain-of-function in promoting cell survival; no specific activating mutations identified.
Dominant Negative (DN)
No dominant-negative mutations described; truncating variants are rare and not characterized.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding (GO:0005524) | • protein folding (GO:0006457) |
| • Hsp70 protein binding (GO:0030544) | • unfolded protein binding (GO:0051082) |
| • response to heat (GO:0009408) | • protein refolding (GO:0042026) |
| • cellular response to heat (GO:0034605) |
Pathways
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
• Thermogenesis (KEGG: hsa04714)
• Chaperone-mediated protein folding (Reactome: R-HSA-390466)
Protein Summary
HSPH1 (Hsp110) is a 858-amino acid protein with an N-terminal ATPase domain, a substrate-binding domain, and a C-terminal dimerization domain. It acts as a nucleotide exchange factor for Hsp70, facilitating ADP-ATP exchange and enhancing chaperone cycling. The protein forms oligomeric complexes and is upregulated under heat shock and other stresses. It localizes to the cytoplasm and nucleus, and its expression is induced by heat shock factor 1 (HSF1).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSPH1 Knockout HEK293 Cell Line | EDJ-KQ7178 | Human | 10808 | Details Get a Quote |
| HSPH1 Knockout A-549 Cell Line | EDJ-KQ32107 | Human | 10808 | Details Get a Quote |
| HSPH1 Knockout HCT 116 Cell Line | EDJ-KQ32108 | Human | 10808 | Details Get a Quote |
| HSPH1 Knockout HeLa Cell Line | EDJ-KQ32109 | Human | 10808 | Details Get a Quote |
