Version: 8.0.0Date: Tue Jan 28 2025
Gene
HSPD1
- Species
- Homo sapiens
- Symbol
- HSPD1
- Name
- heat shock protein family D (Hsp60) member 1
- Synonyms
- 60 kDa chaperonin
- 60 kDa heat shock protein, mitochondrial
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including apolipoprotein A-I binding activity; cysteine-type endopeptidase activator activity; and high-density lipoprotein particle binding activity. Involved in several processes, including B cell activation; positive regulation of cytokine production; and positive regulation of leukocyte activation. Acts upstream of or within T cell activation and positive regulation of type II interferon production. Located in several cellular components, including cytoplasmic vesicle; extracellular exosome; and sperm midpiece. Part of lipopolysaccharide receptor complex. Is active in mitochondrial matrix. Implicated in artery disease (multiple); autistic disorder; glucose intolerance; hereditary spastic paraplegia (multiple); and hypomyelinating leukodystrophy 4. Biomarker of several diseases, including Down syndrome; aphthous stomatitis; autoimmune disease of musculoskeletal system (multiple); carotid artery disease; and cystic fibrosis.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR45633
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr2:197486584...197516737 - (30.15 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.