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

    Gene ID: 3329, updated on 5-May-2024

    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; AllianceGenome:HGNC:5261
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HSPD1 in Genome Data Viewer
    Location:
    2q33.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (197486584..197500274, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (197970209..197983875, complement)
    105.20220307 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 ATAC-STARR-seq lymphoblastoid active region 16934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16935 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:198317938-198318554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16938 Neighboring gene coenzyme Q10B Neighboring gene uncharacterized LOC124907951 Neighboring gene small nucleolar RNA, H/ACA box 105B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12213 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12214 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16939 Neighboring gene HSPE1-MOB4 readthrough Neighboring gene heat shock protein family E (Hsp10) member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12215 Neighboring gene MOB family member 4, phocein Neighboring gene RNY5 pseudogene 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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Hereditary spastic paraplegia 13
    MedGen: C1854467 OMIM: 605280 GeneReviews: Not available
    Compare labs
    Hypomyelinating leukodystrophy 4
    MedGen: C2677109 OMIM: 612233 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS 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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ATP-dependent protein folding chaperone IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA replication origin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables RNA binding HDA PubMed 
    enables apolipoprotein A-I binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables apolipoprotein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables double-stranded RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables high-density lipoprotein particle binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables isomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables lipopolysaccharide binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables p53 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-folding chaperone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein-folding chaperone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables single-stranded DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables unfolded protein binding IC
    Inferred by Curator
    more info
    PubMed 
    enables unfolded protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in 'de novo' protein folding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in B cell activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in B cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in MyD88-dependent toll-like receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in T cell activation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within T cell activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT involved_in adhesion of symbiont to host IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in apoptotic mitochondrial changes IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in biological process involved in interaction with symbiont IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to interleukin-7 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chaperone-mediated protein complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in isotype switching to IgG isotypes IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mitochondrial unfolded protein response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of T cell activation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of T cell activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of T cell activation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of T cell mediated immune response to tumor cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of interferon-alpha production IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of interferon-alpha production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interleukin-10 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interleukin-12 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interleukin-6 production IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of interleukin-6 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of macrophage activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of type II interferon production IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within positive regulation of type II interferon production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of type II interferon production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of type II interferon production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein import into mitochondrial intermembrane space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein maturation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein refolding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein stabilization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to cold ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to unfolded protein IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in clathrin-coated pit IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in coated vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of lipopolysaccharide receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 
    located_in migrasome IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in secretory granule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in sperm midpiece IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in sperm plasma membrane IEA
    Inferred from Electronic Annotation
    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)

    NEW Try the new Transcript table

    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
      5435..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
      B2R5M6, B7Z712, P10809, Q38L19, Q9UCR6
      UniProtKB/TrEMBL
      A0A024R3W0, A0A024R3X4, B3GQS7
      Related
      ENSP00000373620.3, ENST00000388968.8
      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_199440.2NP_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
      B2R5M6, B7Z712, P10809, Q38L19, Q9UCR6
      UniProtKB/TrEMBL
      A0A024R3W0, A0A024R3X4, B3GQS7
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      197970209..197983875 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)