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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
29
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hereditary spastic paraplegia 13 Pathogenic rs66468541, rs775037805 RCV000019112
RCV000680223
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HSPD1-related disorder Likely pathogenic rs2470123138 RCV003412418
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypomyelinating leukodystrophy 4 Pathogenic; Likely pathogenic rs72466451, rs2086193735 RCV000019113
RCV001254923
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukodystrophy Pathogenic rs72466451 RCV005245481
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARTERIOSCLEROSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 13 Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 12140130, 14993140
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome CTD_human_DG 21751358
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma CTD_human_DG 15378696
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 28178129
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 1352969
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 14963017
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Basal Cell Adenocarcinoma CTD_human_DG 15378696
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Oxyphilic Adenocarcinoma CTD_human_DG 15378696
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Tubular Adenocarcinoma CTD_human_DG 15378696
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Neoplasms Adrenal neoplasia BEFREE 16677799
★☆☆☆☆
Found in Text Mining only