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

    Gene ID: 3329, updated on 12-Aug-2018

    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; Vega:OTTHUMG00000154463
    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 RNA, Ro-associated Y5 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 Jun 15 11:32:44 2016

    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 
    colocalizes_with cyclin-dependent protein kinase activating kinase holoenzyme complex 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
    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_002156.4NP_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, OTTHUMP00000205744, ENST00000388968.7, OTTHUMT00000335324
      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 details...Open this link in a new tab

    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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