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HSPD1 heat shock protein family D (Hsp60) member 1 [ Homo sapiens (human) ]

Gene ID: 3329, updated on 3-Jan-2019

Summary

Official Symbol
HSPD1provided by HGNC
Official Full Name
heat shock protein family D (Hsp60) member 1provided by HGNC
Primary source
HGNC:HGNC:5261
See related
Ensembl:ENSG00000144381 MIM:118190
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HLD4; CPN60; GROEL; HSP60; HSP65; SPG13; HSP-60; HuCHA60
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. 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]
Expression
Ubiquitous expression in adrenal (RPKM 359.2), kidney (RPKM 152.5) and 24 other tissues See more
Orthologs

Genomic context

See HSPD1 in Genome Data Viewer
Location:
2q33.1
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (197486584..197500274, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (198351308..198364998, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1029, pseudogene Neighboring gene coenzyme Q10B Neighboring gene small nucleolar RNA, H/ACA box 105B Neighboring gene HSPE1-MOB4 readthrough Neighboring gene heat shock protein family E (Hsp10) member 1 Neighboring gene MOB family member 4, phocein Neighboring gene RNY5 pseudogene 2 Neighboring gene raftlin family member 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Leukodystrophy, hypomyelinating, 4
MedGen: C2677109 OMIM: 612233 GeneReviews: Not available
Compare labs
Spastic paraplegia 13
MedGen: C1854467 OMIM: 605280 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
High levels of additive and synergic antiretroviral activity are obtained by using antiretroviral compounds (T1249, 3TC, RAL, or IDV) in PM1 cells stably expressing anti-host shRNAs (IPO7, HSPD1, or ATG16) or anti-HIV shRNAs (Pol, RT, or Nef) PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify heat shock 60kDa protein 1 (HSPD1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 binds to heat-shock protein hsp60 through its extracellular domain (Env amino acids 539-684) PubMed
Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify heat shock 60kDa protein 1 (HSPD1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Nef nef High levels of additive and synergic antiretroviral activity are obtained by using antiretroviral compounds (T1249, 3TC, RAL, or IDV) in PM1 cells stably expressing anti-host shRNAs (IPO7, HSPD1, or ATG16) or anti-HIV shRNAs (Pol, RT, or Nef) PubMed
nef Tandem affinity purification and mass spectrometry analysis identify heat shock 60kDa protein 1 (HSPD1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Pol gag-pol High levels of additive and synergic antiretroviral activity are obtained by using antiretroviral compounds (T1249, 3TC, RAL, or IDV) in PM1 cells stably expressing anti-host shRNAs (IPO7, HSPD1, or ATG16) or anti-HIV shRNAs (Pol, RT, or Nef) PubMed
Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify heat shock 60kDa protein 1 (HSPD1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
gag Hsp60 is specifically incorporated into HIV-1 virions, similar to Hsp70 which is incorporated into virions through an interaction with HIV-1 Gag PubMed
Tat tat HIV-1 Tat upregulates the expression of heat shock 60kDa protein 1 (HSPD1; HSP60) in Jurkat cells PubMed
Vif vif HIV-1 Vif interacts with HSPD1 PubMed
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of heat shock 60kDa protein 1 (HSPD1) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed
integrase gag-pol HSP60 binds to the catalytic core domain (amino acids 48-212) of HIV-1 integrase (IN), stabilizing the IN active form and reducing thermal denaturation of the enzyme, thereby stimulating IN activity PubMed
retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human heat shock 60kDa protein 1, mitochondria (HSPD1; chaperonin) at amino acid residues 431-432 by the HIV-1 protease PubMed
reverse transcriptase gag-pol High levels of additive and synergic antiretroviral activity are obtained by using antiretroviral compounds (T1249, 3TC, RAL, or IDV) in PM1 cells stably expressing anti-host shRNAs (IPO7, HSPD1, or ATG16) or anti-HIV shRNAs (Pol, RT, or Nef) PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Apoptosis-related network due to altered Notch3 in ovarian cancer, organism-specific biosystem (from WikiPathways)
    Apoptosis-related network due to altered Notch3 in ovarian cancer, organism-specific biosystemResults of pathway analysis of apoptosis-related genes in OVCAR3 cells treated with Notch3 siRNA or control siRNA.
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Legionellosis, organism-specific biosystem (from KEGG)
    Legionellosis, organism-specific biosystemLegionellosis is a potentially fatal infectious disease caused by the bacterium Legionella pneumophila and other legionella species. Two distinct clinical and epidemiological syndromes are associated...
  • Legionellosis, conserved biosystem (from KEGG)
    Legionellosis, conserved biosystemLegionellosis is a potentially fatal infectious disease caused by the bacterium Legionella pneumophila and other legionella species. Two distinct clinical and epidemiological syndromes are associated...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Mitochondrial protein import, organism-specific biosystem (from REACTOME)
    Mitochondrial protein import, organism-specific biosystemA human mitochondrion contains about 1500 proteins, more than 99% of which are encoded in the nucleus, synthesized in the cytosol and imported into the mitochondrion. Proteins are targeted to four lo...
  • RNA degradation, organism-specific biosystem (from KEGG)
    RNA degradation, organism-specific biosystemThe correct processing, quality control and turnover of cellular RNA molecules are critical to many aspects in the expression of genetic information. In eukaryotes, two major pathways of mRNA decay e...
  • RNA degradation, conserved biosystem (from KEGG)
    RNA degradation, conserved biosystemThe correct processing, quality control and turnover of cellular RNA molecules are critical to many aspects in the expression of genetic information. In eukaryotes, two major pathways of mRNA decay e...
  • Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
  • TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation, organism-specific biosystem (from REACTOME)
    TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation, organism-specific biosystemDuring retinoic acid-induced cell differentiation, TFAP2A, in complex with NPM1 (nucleophosmin), represses transcription of HSPD1 (Hsp60), NOP2 (p120) and MYBL2 (b-Myb). The repression of gene expres...
  • Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors, organism-specific biosystem (from REACTOME)
    Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors, organism-specific biosystemThe AP-2 (TFAP2) family of transcription factors includes five proteins in mammals: TFAP2A (AP-2 alpha), TFAP2B (AP-2 beta), TFAP2C (AP-2 gamma), TFAP2D (AP-2 delta) and TFAP2E (AP-2 epsilon). The AP...
  • Tuberculosis, organism-specific biosystem (from KEGG)
    Tuberculosis, organism-specific biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
  • Tuberculosis, conserved biosystem (from KEGG)
    Tuberculosis, conserved biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
  • Type I diabetes mellitus, organism-specific biosystem (from KEGG)
    Type I diabetes mellitus, organism-specific biosystemType I diabetes mellitus is a disease that results from autoimmune destruction of the insulin-producing beta-cells. Certain beta-cell proteins act as autoantigens after being processed by antigen-pre...
  • Type I diabetes mellitus, conserved biosystem (from KEGG)
    Type I diabetes mellitus, conserved biosystemType I diabetes mellitus is a disease that results from autoimmune destruction of the insulin-producing beta-cells. Certain beta-cell proteins act as autoantigens after being processed by antigen-pre...
  • Validated targets of C-MYC transcriptional activation, organism-specific biosystem (from Pathway Interaction Database)
    Validated targets of C-MYC transcriptional activation, organism-specific biosystem
    Validated targets of C-MYC transcriptional activation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
DNA replication origin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
RNA binding HDA PubMed 
apolipoprotein A-I binding IPI
Inferred from Physical Interaction
more info
PubMed 
apolipoprotein binding IPI
Inferred from Physical Interaction
more info
PubMed 
chaperone binding IPI
Inferred from Physical Interaction
more info
PubMed 
double-stranded RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
high-density lipoprotein particle binding IDA
Inferred from Direct Assay
more info
PubMed 
lipopolysaccharide binding IDA
Inferred from Direct Assay
more info
PubMed 
p53 binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
unfolded protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
unfolded protein binding IC
Inferred by Curator
more info
PubMed 
unfolded protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
'de novo' protein folding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
'de novo' protein folding ISS
Inferred from Sequence or Structural Similarity
more info
 
B cell activation IDA
Inferred from Direct Assay
more info
PubMed 
B cell cytokine production IDA
Inferred from Direct Assay
more info
PubMed 
B cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
MyD88-dependent toll-like receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
T cell activation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
T cell activation IDA
Inferred from Direct Assay
more info
PubMed 
activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
NOT adhesion of symbiont to host IDA
Inferred from Direct Assay
more info
PubMed 
apoptotic mitochondrial changes IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chaperone-mediated protein complex assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
interaction with symbiont IMP
Inferred from Mutant Phenotype
more info
PubMed 
isotype switching to IgG isotypes IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of T cell activation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of T cell activation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of T cell mediated immune response to tumor cell IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of interferon-alpha production IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of interferon-gamma production IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of interferon-gamma production ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of interleukin-10 production IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of interleukin-12 production IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of interleukin-6 production IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of macrophage activation IDA
Inferred from Direct Assay
more info
PubMed 
protein import into mitochondrial intermembrane space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein maturation ISS
Inferred from Sequence or Structural Similarity
more info
 
protein refolding IDA
Inferred from Direct Assay
more info
PubMed 
protein stabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein stabilization ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
response to cold ISS
Inferred from Sequence or Structural Similarity
more info
 
response to unfolded protein IDA
Inferred from Direct Assay
more info
PubMed 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
clathrin-coated pit IDA
Inferred from Direct Assay
more info
PubMed 
coated vesicle IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
lipopolysaccharide receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
mitochondrial inner membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
secretory granule ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
60 kDa heat shock protein, mitochondrial
Names
60 kDa chaperonin
P60 lymphocyte protein
chaperonin 60
epididymis secretory sperm binding protein
heat shock 60kDa protein 1 (chaperonin)
heat shock protein 65
mitochondrial matrix protein P1
short heat shock protein 60 Hsp60s1
NP_002147.2
NP_955472.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008915.1 RefSeqGene

    Range
    5001..18691
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002156.5NP_002147.2  60 kDa heat shock protein, mitochondrial

    See identical proteins and their annotated locations for NP_002147.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AU098504, BC002676
    Consensus CDS
    CCDS33357.1
    UniProtKB/Swiss-Prot
    P10809
    UniProtKB/TrEMBL
    A0A024R3X4
    Related
    ENSP00000373620.3, ENST00000388968.7
    Conserved Domains (1) summary
    cd03344
    Location:28548
    GroEL; GroEL_like type I chaperonin. Chaperonins are involved in productive folding of proteins. They share a common general morphology, a double toroid of 2 stacked rings, each composed of 7-9 subunits. The symmetry of type I is seven-fold and they are found ...
  2. NM_199440.1NP_955472.1  60 kDa heat shock protein, mitochondrial

    See identical proteins and their annotated locations for NP_955472.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    BC002676, BG701476
    Consensus CDS
    CCDS33357.1
    UniProtKB/Swiss-Prot
    P10809
    UniProtKB/TrEMBL
    A0A024R3X4
    Related
    ENSP00000340019.2, ENST00000345042.6
    Conserved Domains (1) summary
    cd03344
    Location:28548
    GroEL; GroEL_like type I chaperonin. Chaperonins are involved in productive folding of proteins. They share a common general morphology, a double toroid of 2 stacked rings, each composed of 7-9 subunits. The symmetry of type I is seven-fold and they are found ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    197486584..197500274 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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