HSPD1 (HSP60): Chaperonin, Mitochondrial Protein Folding, and Disease-Associated Gene
A comprehensive biomedical reference for HSPD1, encoding the mitochondrial chaperonin HSP60, covering gene structure, function, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | HSPD1 |
|---|---|
| Full Name | Heat Shock Protein Family D (Hsp60) Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q33.1 (GRCh38) |
| NCBI Gene ID | 3329 ncbi.nlm.nih.gov/gene/3329 |
| Ensembl ID | ENSG00000144381 |
| UniProt ID | P10809 |
| OMIM ID | 118190 |
| HGNC ID | 5261 |
| Aliases | HSP60, HSP65, CPN60, GROEL, SPG13 |
Description
HSPD1 encodes the mitochondrial chaperonin HSP60, a member of the heat shock protein family. HSP60 forms a heptameric ring complex that, together with its co-chaperonin HSP10 (encoded by HSPE1), facilitates ATP-dependent folding of mitochondrial proteins imported from the cytoplasm. It is essential for mitochondrial proteostasis, stress response, and apoptosis regulation. Mutations in HSPD1 are associated with hereditary spastic paraplegia type 13 (SPG13) and hypomyelinating leukodystrophy (HLD4).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia 13 (SPG13) | Missense mutations (e.g., p.Val98Ile, p.Glu483Ala) impair chaperonin function, leading to mitochondrial dysfunction and axonal degeneration. | OMIM #605280; ClinVar; PMID: 11159947 |
| Hypomyelinating Leukodystrophy 4 (HLD4) | Mutations such as p.Asp29Gly and p.Val72Ile disrupt protein folding, causing severe neurological impairment with hypomyelination. | OMIM #612233; ClinVar; PMID: 18414213 |
| Mitochondrial Complex I Deficiency (secondary) | HSP60 dysfunction may indirectly affect oxidative phosphorylation due to impaired folding of mitochondrial respiratory chain subunits. | UniProt; PMID: 23382116 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | ~50 | Medium |
| Heart | ~80 | High |
| Liver | ~60 | Medium |
| Skeletal Muscle | ~70 | High |
| Kidney | ~55 | Medium |
| Testis | ~40 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | ~65 | Cervical carcinoma; high mitochondrial content |
| HepG2 | ~70 | Hepatocellular carcinoma; high metabolic activity |
| SH-SY5Y | ~50 | Neuroblastoma; relevant for neurological studies |
| MCF7 | ~60 | Breast adenocarcinoma; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Val98Ile | Missense | Rare (SPG13) | Impairs ATPase activity and chaperonin function |
| p.Glu483Ala | Missense | Rare (SPG13) | Disrupts substrate binding and folding |
| p.Asp29Gly | Missense | Rare (HLD4) | Affects mitochondrial import and protein stability |
| p.Val72Ile | Missense | Rare (HLD4) | Alters heptamer assembly and function |
Mutation functional classification
Loss of Function (LOF)
Most HSPD1 mutations are hypomorphic or loss-of-function, reducing chaperonin activity and mitochondrial protein folding capacity.
Gain of Function (GOF)
No clear gain-of-function mutations reported; some variants may cause dominant-negative effects.
Dominant Negative (DN)
Mutations like p.Val98Ile act in a dominant-negative manner, as the mutant subunit poisons the heptameric complex.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • chaperonin binding |
| • protein folding | • mitochondrial matrix |
| • response to stress | • protein refolding |
Pathways
• Mitochondrial protein import and folding
• Heat shock response
• Apoptosis regulation
Protein Summary
HSP60 is a 61 kDa mitochondrial chaperonin that forms a tetradecameric double-ring structure. It binds unfolded polypeptides in an ATP-dependent manner and, with HSP10, promotes their correct folding. HSP60 also participates in apoptosis by interacting with pro-apoptotic factors. Its expression is upregulated under stress conditions. Defects in HSP60 lead to mitochondrial dysfunction and neurodegeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSPD1 (p.K133E & p.S488R) Point Mutation in HELA Cell Line | EDC03226 | Human | 3329 | Details Get a Quote |
| HSPD1 (p.S488R) Point Mutation in HELA Cell Line | EDC03011 | Human | 3329 | Details Get a Quote |
| HSPD1(p.R446A, c.1336_1337CG>GC)Point Mutation in HeLa Cell Line | EDC90410 | Human | 3329 | Details Get a Quote |
| HSPD1（p.K133E） Point Mutation in HeLa Cell Line | EDC03010 | Human | 3329 | Details Get a Quote |
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