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

Gene ID: 3329, updated on 12-Aug-2022

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
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Genomic context

See HSPD1 in Genome Data Viewer
Location:
2q33.1
Exon count:
13
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (197486584..197500274, complement)
110 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 coenzyme Q10B Neighboring gene uncharacterized LOC124907951 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

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

Homology

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 chaperone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables chaperone 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 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
PubMed 
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
PubMed 
involved_in biological process involved in interaction with symbiont IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
involved_in positive regulation of interferon-alpha production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of interferon-gamma production IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within positive regulation of interferon-gamma production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of interferon-gamma production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of interferon-gamma production ISS
Inferred from Sequence or Structural Similarity
more info
 
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
PubMed 
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 protein folding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein import into mitochondrial intermembrane space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
is_active_in mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
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 

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
    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, Q9UCR6
    UniProtKB/TrEMBL
    A0A024R3W0, A0A024R3X4
    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
    P10809, Q9UCR6
    UniProtKB/TrEMBL
    A0A024R3W0, 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 110 details...Open this link in a new tab

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)