HSPD1 Gene Summary [Human]
This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. [provided by RefSeq, Jun 2010]
Details
| Type | Protein Coding |
| Official Symbol | HSPD1 |
| Official Name | heat shock protein family D (Hsp60) member 1 [Source:HGNC Symbol;Acc:HGNC:5261] |
| Ensembl ID | ENSG00000144381 |
| Bio databases IDs | |
| Aliases | heat shock protein family D (Hsp60) member 1 |
| Synonyms | CPN60, GROEL, heat shock protein 1 (chaperonin), heat shock protein family D (Hsp60) member 1, HLD4, HSP-60, HSP-65, Hspd1-30p, HuCHA60, MITO-P60, SPG13 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HSPD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquitin protein ligase binding
- T-complex protein 1, beta subunit
- T-complex protein 1, alpha subunit
- high-density lipoprotein binding
- enzyme binding
- DNA replication origin binding
- signal peptide
- enzyme
- enzyme regulator activity
- protein binding
- p53 binding
- protease activator
- lipopolysaccharide binding
- ATPase
- TCP-1/cpn60 chaperonin family
- binding protein
- single-stranded DNA binding
- T-complex protein 1, zeta subunit
- double-stranded RNA binding
- T-complex protein 1, delta subunit
- T-complex protein 1, gamma subunit
- chaperonin_like
- chaperone binding
- chaperonin GroL
Pathways
Biological processes and signaling networks where the HSPD1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- epithelial cancer
- hereditary spastic paraplegia autosomal dominant 13
- schizophrenia
- uveitis
- adenocarcinoma
- metastasis
- rheumatoid arthritis
- colorectal cancer
- atherosclerosis
role in cell
- apoptosis
- expression in
- proliferation
- production in
- differentiation
- activation
- cell death
- transmembrane potential
- activation in
- quantity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- myelin enriched fraction
- membrane fraction
- mitochondrial fraction
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- peroxisomal matrix
- intracellular membrane-bounded organelle
- cell surface
- Extracellular Space
- perinuclear region
- cellular membrane
- Nucleus
- Plasma Membrane
- basal bodies
- vesicles
- Mitochondria
- cytosol
- mitochondrial matrix
- mitochondrial nucleoids
- mitochondrial outer membrane
- mitochondrial inner membrane
- nucleoli
- nuclear envelope
- sperm midpiece
- zymogen granules
- early endosomes
- peroxisomes
- secretory granules
- Golgi cisternae
- clathrin-coated pits
- exosomes
- phagosomes
- plasma
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HSPD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- T cell activation
- B cell activation
- response to unfolded protein
- positive regulation of interferon-alpha production
- response to cold
- positive regulation of T cell activation
- apoptotic mitochondrial changes
- MyD88-dependent toll-like receptor signaling pathway
- positive regulation of interferon-gamma production
- positive regulation of macrophage activation
- protein maturation
- activation of cysteine-type endopeptidase activity involved in apoptotic process
- interaction with symbiont
- adhesion to host
- B cell proliferation
- protein refolding
- protein folding
- 'de novo' protein folding
- protein import into mitochondrial intermembrane space
- positive regulation of interleukin-12 production
- positive regulation of T cell mediated immune response to tumor cell
- negative regulation of apoptotic process
- chaperone-mediated protein complex assembly
- positive regulation of apoptotic process
- protein stabilization
- positive regulation of interleukin-6 production
- positive regulation of interleukin-10 production
- mitochondrial unfolded protein response
- isotype switching to IgG isotypes
Cellular Component
Where in the cell the gene product is active
- secretory granule
- plasma membrane
- mitochondrial inner membrane
- cell surface
- extracellular space
- early endosome
- extracellular vesicular exosome
- sperm midpiece
- cytoplasm
- lipopolysaccharide receptor complex
- mitochondrial matrix
- coated pit
- mitochondrion
- membrane
- cytosol
- macromolecular complex
- coated vesicle
Molecular Function
What the gene product does at the molecular level
- apolipoprotein binding
- ATPase activity
- apolipoprotein A-I binding
- unfolded protein binding
- high-density lipoprotein particle binding
- lipopolysaccharide binding
- single-stranded DNA binding
- DNA replication origin binding
- ATP binding
- p53 binding
- protein binding
- ubiquitin protein ligase binding
- RNA binding
- double-stranded RNA binding
- chaperone binding
- enzyme binding
- isomerase activity