Gene Gene information from NCBI Gene database.
Entrez ID 3329
Gene name Heat shock protein family D (Hsp60) member 1
Gene symbol HSPD1
Synonyms (NCBI Gene)
CPN60GROELHLD4HSP-60HSP60HSP65HuCHA60SPG13
Chromosome 2
Chromosome location 2q33.1
Summary 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.
3
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.
389
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 factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
RUNX3 Repression 17956589
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
100
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
118190 5261 ENSG00000144381
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
297
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary spastic paraplegia 13 Pathogenic rs66468541, rs775037805 RCV000019112
RCV000680223
HSPD1-related disorder Likely pathogenic rs2470123138 RCV003412418
Hypomyelinating leukodystrophy 4 Pathogenic; Likely pathogenic rs72466451, rs2086193735 RCV000019113
RCV001254923
Leukodystrophy Pathogenic rs72466451 RCV005245481
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs762688563 RCV005868618
Hepatocellular carcinoma Conflicting classifications of pathogenicity rs139649754 RCV005899498
Hereditary spastic paraplegia Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign rs755920309, rs184516277, rs2106070461, rs2106076413, rs2086128764, rs557196021, rs2106075505, rs8539, rs11551349, rs1050347, rs189395138, rs41265953, rs11551346, rs111401572, rs141357756
View all (6 more)
RCV001848454
RCV001848455
RCV001848456
RCV001848458
RCV001848459
RCV001848460
RCV001848461
RCV001847688
RCV001847689
RCV001847690
RCV001847745
RCV001847746
RCV001847747
RCV001847748
RCV001847878
RCV001847956
RCV001848675
RCV001848790
RCV000515926
RCV001849138
RCV001847170
Malignant tumor of urinary bladder Conflicting classifications of pathogenicity rs139649754 RCV005899497
Associations from Text MiningDisease 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