Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3329
Gene name Gene Name - the full gene name approved by the HGNC.
Heat shock protein family D (Hsp60) member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HSPD1
Synonyms (NCBI Gene) Gene synonyms aliases
CPN60, GROEL, HLD4, HSP-60, HSP60, HSP65, HuCHA60, SPG13
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q33.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs61755731 C>T Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, missense variant
rs66468541 C>T Pathogenic Coding sequence variant, missense variant
rs863224042 T>C Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003976 hsa-miR-1-3p Luciferase reporter assay 17715156
MIRT003976 hsa-miR-1-3p Luciferase reporter assay 17715156
MIRT003976 hsa-miR-1-3p Luciferase reporter assay 17715156
MIRT003976 hsa-miR-1-3p Luciferase reporter assay 17715156
MIRT003976 hsa-miR-1-3p Review 19815577
Transcription factors
Transcription factor Regulation Reference
RUNX3 Repression 17956589
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001530 Function Lipopolysaccharide binding IDA 17164250
GO:0001530 Function Lipopolysaccharide binding IEA
GO:0001819 Process Positive regulation of cytokine production IEA
GO:0002039 Function P53 binding IPI 18086682
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
118190 5261 ENSG00000144381
Protein
UniProt ID P10809
Protein name 60 kDa heat shock protein, mitochondrial (EC 5.6.1.7) (60 kDa chaperonin) (Chaperonin 60) (CPN60) (Heat shock protein 60) (HSP-60) (Hsp60) (Heat shock protein family D member 1) (HuCHA60) (Mitochondrial matrix protein P1) (P60 lymphocyte protein)
Protein function Chaperonin implicated in mitochondrial protein import and macromolecular assembly. Together with Hsp10, facilitates the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded p
PDB 4PJ1 , 6HT7 , 6MRC , 6MRD , 7AZP , 7L7S , 8G7J , 8G7K , 8G7L , 8G7M , 8G7N , 8G7O , 8U39
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00118 Cpn60_TCP1 47 550 TCP-1/cpn60 chaperonin family Family
Sequence
Sequence length 573
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  RNA degradation
Type I diabetes mellitus
Legionellosis
Tuberculosis
Lipid and atherosclerosis
  Mitochondrial protein import
TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hereditary spastic paraplegia Hereditary spastic paraplegia 13 rs66468541 N/A
Hypomyelinating Leukodystrophy Hypomyelinating leukodystrophy 4 rs72466451, rs2086193735 N/A
Leukodystrophy leukodystrophy rs72466451 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Schizophrenia Schizophrenia N/A N/A GWAS
Spastic paraplegia Spastic paraplegia, autosomal dominant N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 23028910
Adenocarcinoma Associate 23839491, 27491302, 28178129
Adenocarcinoma of Lung Associate 33640883, 37189138, 37694354, 38017020
Adenoma Associate 27491302
Alzheimer Disease Associate 39201760
Antiphospholipid Syndrome Associate 18759277
Aortic Aneurysm Thoracic Associate 36291095
Aortic Valve Stenosis Associate 15120829
Arthritis Associate 1316935, 7883993
Arthritis Juvenile Associate 12847694, 1316935, 7883993