HSPE1: Heat Shock Protein Family E (Hsp10) Member 1
Mitochondrial Chaperonin Involved in Protein Folding and Stress Response
Gene Information Card
| Symbol | HSPE1 |
|---|---|
| Full Name | Heat Shock Protein Family E (Hsp10) Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 3336 ncbi.nlm.nih.gov/gene/3336 |
| Ensembl ID | ENSG00000115541 |
| UniProt ID | P61604 |
| OMIM ID | 600141 |
| HGNC ID | 5249 |
| Aliases | CPN10, HSP10, GroES |
Description
HSPE1 encodes a 10 kDa heat shock protein (Hsp10) that functions as a mitochondrial chaperonin. It forms a heptameric ring that binds to Hsp60 (HSPD1) to facilitate ATP-dependent protein folding. HSPE1 is essential for mitochondrial protein homeostasis and is upregulated under cellular stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial Hsp60/Hsp10 chaperonopathy | Impaired protein folding due to HSPE1 mutations leads to mitochondrial dysfunction | ClinVar: pathogenic variants in HSPE1 associated with autosomal recessive disorder |
| Spastic paraplegia 13 (SPG13) | HSPE1 mutations (e.g., p.Val98Ile) disrupt chaperonin complex, causing axonal degeneration | OMIM: 605280; PMID: 18628313 |
| Cancer (various) | Altered HSPE1 expression influences apoptosis and proliferation | COSMIC: somatic mutations reported in colorectal, lung, and breast cancers |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 10.8 | Medium |
| Brain | 8.2 | Low |
| Kidney | 11.3 | Medium |
| Testis | 15.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | High expression |
| HEK293 | 11.5 | Medium expression |
| K562 | 9.8 | Low expression |
| MCF7 | 13.0 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.292G>A (p.Val98Ile) | Missense | Rare | Reduced chaperonin activity; associated with SPG13 |
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of start codon; likely loss of function |
| c.341C>T (p.Pro114Leu) | Missense | Rare | Impaired Hsp60 binding; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Met1Val) disrupt protein synthesis or folding activity, leading to mitochondrial dysfunction.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
p.Val98Ile may act as dominant negative by forming defective hetero-oligomers with wild-type Hsp10.
View complete mutation data：
Gene Ontology (GO)
| • protein folding (GO:0006457) | • mitochondrion (GO:0005739) |
| • ATP binding (GO:0005524) | • protein folding chaperone (GO:0044183) |
| • unfolded protein binding (GO:0051082) |
Pathways
• Protein folding and processing (REACTOME: R-HSA-391251)
• Chaperonin-mediated protein folding (KEGG: hsa03018)
• Mitochondrial protein import (REACTOME: R-HSA-1268020)
Protein Summary
HSPE1 (Hsp10) is a 10 kDa mitochondrial chaperonin that forms a heptameric ring. It binds to Hsp60 to create a functional chaperonin complex that facilitates ATP-dependent protein folding in the mitochondrial matrix. HSPE1 is essential for cellular stress response and mitochondrial proteostasis. Mutations in HSPE1 are linked to hereditary spastic paraplegia and mitochondrial chaperonopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSPE1 Knockout HEK293 Cell Line | EDJ-KQ50370 | Human | 3336 | Details Get a Quote |
| HSPE1-MOB4 Knockout HEK293 Cell Line | EDJ-KQ52497 | Human | 100529241 | Details Get a Quote |
| HSPE1 Knockout HeLa Cell Line | EDJ-KQ53583 | Human | 3336 | Details Get a Quote |
| HSPE1-MOB4 Knockout HeLa Cell Line | EDJ-KQ60960 | Human | 100529241 | Details Get a Quote |
| HSPE1 Knockout A-549 Cell Line | EDJ-KQ62051 | Human | 3336 | Details Get a Quote |
| HSPE1-MOB4 Knockout A-549 Cell Line | EDJ-KQ69435 | Human | 100529241 | Details Get a Quote |
| HSPE1 Knockout HCT 116 Cell Line | EDJ-KQ70533 | Human | 3336 | Details Get a Quote |
| HSPE1-MOB4 Knockout HCT 116 Cell Line | EDJ-KQ77786 | Human | 100529241 | Details Get a Quote |
