HSPD1 heat shock 60kDa protein 1 (chaperonin) [Homo sapiens] - Gene

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Summary

Official Symbol: HSPD1provided by HGNC
Official Full Name: heat shock 60kDa protein 1 (chaperonin)provided by HGNC
Primary source: HGNC:5261
See related: Ensembl:ENSG00000144381; HPRD:00318; 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]

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Genomic context

Location :: 2q33.1

Sequence :: Chromosome: 2; NC_000002.11 (198351308..198364998, complement)

See HSPD1 in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Hsp60 might be a factor underlying adipose tissue inflammation and obesity-associated metabolic disorders.
Title: Heat shock protein 60 as a mediator of adipose tissue inflammation and insulin resistance.
This is the first report clearly pointing to participation of heat shock proteins, particularly Hsp60, in chronic obstructive pulmonary diseases pathogenesis.
Title: Convergent sets of data from in vivo and in vitro methods point to an active role of Hsp60 in chronic obstructive pulmonary disease pathogenesis.
The study reports the presence of elevated levels of HSP60 in both saliva and serum of type 2 diabetic patients compared to non-diabetic controls.
Title: Detection of Hsp60 in saliva and serum from type 2 diabetic and non-diabetic control subjects.
The folding of mitochondrial-targeted green fluorescent protein, a well-known substrate protein of HSP60, was consistently impaired in cells expressing HSP60 variant with a mutation (Asp423Ala) in the ATPase domain.
Title: A cell model to study different degrees of Hsp60 deficiency in HEK293 cells.
Loss of the tumor suppression function of Hsp60 or GANAB contribute to aggressive cancers.
Title: Molecular chaperones as a common set of proteins that regulate the invasion phenotype of head and neck cancer.
High prognosis is associated with recurrence in lung adenocarcinoma.
Title: Heat shock protein-60 expression was significantly correlated with the prognosis of lung adenocarcinoma.
The mRNA and protein levels of HSP60, HSP70 and HSP90alpha, as well as their positive rates were significantly increased in colorectal cancer tissues compared with those in para-cancerous tissues.
Title: [Expressions of heat shock protein (HSP) family HSP 60, 70 and 90alpha in colorectal cancer tissues and their correlations to pathohistological characteristics].
Externalized Heat-shock protein 60 in apoptotic cells and senescent platelets influences events subsequent to apoptosis, such as the clearance of apoptotic cells by phagocytes.
Title: Heat-shock protein 60 translocates to the surface of apoptotic cells and differentiated megakaryocytes and stimulates phagocytosis.
Hsp60 and HO-1 play distinct roles in the pathogenesis of AMI and subsequent AMI-related pathology
Title: Hsp60 and heme oxygenase-1 (Hsp32) in acute myocardial infarction.
cHSP60- and cHSP10-induced caspase expression, proinflammatory cytokine production and apoptosis of primary cervical epithelial cells might play a role in the pathogenesis of infertility in women with persistent chlamydial infection.
Title: Chlamydia trachomatis heat shock proteins 60 and 10 induce apoptosis in endocervical epithelial cells.

Submit: New GeneRIF Correction See all (107)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Leukodystrophy, hypomyelinating, 4

MIM: 612233

Spastic paraplegia 13, autosomal dominant

MIM: 605280

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HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	HIV-1 gp41 binds to heat-shock protein hsp60 through its extracellular domain (Env amino acids 539-684)	PubMed
Pr55(Gag)	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
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

Go to the HIV-1, Human Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_002147.2	NP_000302.1	PRNP	BIND	PubMed	PrPc interacts with HSPD1 (Hsp60). This interaction was modeled on a demonstrated interaction between hamster PrPc and human HSPD1 (Hsp60).
P10809	P05091	ALDH2	HPRD	PubMed
P10809	Q16611	BAK1	HPRD	PubMed
P10809	P00918	CA2	HPRD	PubMed
P10809	P42574	CASP3	HPRD	PubMed
P10809	P55211	CASP9	HPRD	PubMed
P10809	P00374	DHFR	HPRD	PubMed
P10809	P49789	FHIT	HPRD	PubMed
P10809	Q16778	HIST2H2BE	HPRD	PubMed
P10809	P10809	HSPD1	HPRD	PubMed
P10809	P61604	HSPE1	HPRD	PubMed
P10809	P26006	ITGA3	HPRD	PubMed
P10809	P05556	ITGB1	HPRD	PubMed
P10809	P30153	PPP2R1A	HPRD	PubMed
P10809	P30154	PPP2R1B	HPRD	PubMed
P10809	P17612	PRKACA	HPRD	PubMed
P10809	P04156	PRNP	HPRD	PubMed
P10809	P20936	RASA1	HPRD	PubMed
P10809	Q6EEV6	SUMO4	HPRD	PubMed
P10809	Q15399	TLR1	HPRD	PubMed
P10809	P61981	YWHAG	HPRD	PubMed
BioGRID:109561	BioGRID:106719	ALDH2	BioGRID	PubMed	Co-fractionation; Two-hybrid
BioGRID:109561	BioGRID:106739	ALK	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:109561	BioGRID:106764	AMFR	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109561	BioGRID:106848	APP	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109561	BioGRID:107054	BAK1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109561	BioGRID:107057	BAX	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109561	BioGRID:107215	CA2	BioGRID	PubMed	Co-crystal Structure
BioGRID:109561	BioGRID:107286	CASP3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109561	BioGRID:107358	CD4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109561	BioGRID:107459	CDK9	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109561	BioGRID:108065	DHFR	BioGRID	PubMed	Co-purification; Reconstituted Complex
BioGRID:109561	BioGRID:971788	EBNA-LP	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:109561	BioGRID:109315	HDAC1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109561	BioGRID:115331	HDAC5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109561	BioGRID:113945	HIST2H2BE	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109561	BioGRID:109428	HNRNPH1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109561	BioGRID:109568	HSPE1	BioGRID	PubMed	Affinity Capture-Western; Co-fractionation; Two-hybrid
BioGRID:109561	BioGRID:109622	ICT1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109561	BioGRID:111583	MAPK6	BioGRID	PubMed	Two-hybrid
BioGRID:109561	BioGRID:110694	MYC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109561	BioGRID:109165	NR3C1	BioGRID	PubMed	Two-hybrid
BioGRID:109561	BioGRID:111136	PCK1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109561	BioGRID:111514	PPP2R2C	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109561	BioGRID:111657	PSMA3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109561	BioGRID:117487	RPAP1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109561	BioGRID:113826	SF3A2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109561	BioGRID:116983	SIRT1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109561	BioGRID:116982	SIRT3	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
BioGRID:109561	BioGRID:116734	SPG20	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109561	BioGRID:117071	SRRM2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109561	BioGRID:115563	STUB1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109561	BioGRID:112497	SUMO2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109561	BioGRID:132223	SUMO4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109561	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

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
cell surface binding	IDA Inferred from Direct Assay more info	PubMed
chaperone binding	IPI Inferred from Physical Interaction more info	PubMed
lipopolysaccharide binding	IDA Inferred from Direct Assay more info	PubMed
nucleotide binding	IEA Inferred from Electronic Annotation more info
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
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	ISS Inferred from Sequence or Structural Similarity more info
ATP catabolic process	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	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
cell death	IEA Inferred from Electronic Annotation more info
chaperone-mediated protein complex assembly	ISS Inferred from Sequence or Structural Similarity more info
interspecies interaction between organisms	IEA Inferred from Electronic Annotation more info
isotype switching to IgG isotypes	IDA Inferred from Direct Assay 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 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
response to unfolded protein	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
cell surface	IDA Inferred from Direct Assay more info	PubMed
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	IEA Inferred from Electronic Annotation more info
cytosol	IDA Inferred from Direct Assay more info	PubMed
early endosome	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
mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
mitochondrial matrix	TAS Traceable Author Statement more info	PubMed
mitochondrion	IDA Inferred from Direct Assay more info	PubMed
plasma membrane part	IEA Inferred from Electronic Annotation more info
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 heat shock protein, mitochondrial; chaperonin 60; 60 kDa chaperonin; heat shock protein 65; P60 lymphocyte protein; mitochondrial matrix protein P1; short heat shock protein 60 Hsp60s1

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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

NG_008915.1 RefSeqGene

Range

5001..18691

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002156.4 → NP_002147.2 60 kDa heat shock protein, mitochondrial

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

Related

ENSP00000373620, OTTHUMP00000205744, ENST00000388968, OTTHUMT00000335324

Conserved Domains (2) summary

cd03344
Location:28 – 548
Blast Score: 1951

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 ...

PRK12849
Location:27 – 556
Blast Score: 1786

groEL; chaperonin GroEL; Reviewed
NM_199440.1 → NP_955472.1 60 kDa heat shock protein, mitochondrial

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

Related

ENSP00000340019, ENST00000345042

Conserved Domains (2) summary

cd03344
Location:28 – 548
Blast Score: 1951

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 ...

PRK12849
Location:27 – 556
Blast Score: 1786

groEL; chaperonin GroEL; Reviewed

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p5 Primary Assembly

Range

198351308..198364998, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

190203711..190217402, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC010746.8 (222198..227377)	None
genomic	AC020550.4	AAX93145.1
genomic	AC114809.3	AAY24018.1
genomic	AF380943.2	AAK60260.1
genomic	AJ250915.1	CAB75426.1
genomic	CH471063.1	EAW70148.1
		EAW70149.1
		EAW70150.1
		EAW70151.1
		EAW70152.1
		EAW70153.1
genomic	CS611909.1	CAO02240.1
genomic	DQ217936.1	ABB01006.1
mRNA	AK297305.1	BAH12542.1
mRNA	AK298368.1	BAH12768.1
mRNA	AK298632.1	BAH12833.1
mRNA	AK298844.1	BAH12883.1
mRNA	AK301276.1	BAH13448.1
mRNA	AK312240.1	BAG35173.1
mRNA	AU098504.1	None
mRNA	BC002676.2	AAH02676.1
mRNA	BC003030.1	AAH03030.1
mRNA	BC047350.1	None
mRNA	BC067082.1	AAH67082.1
mRNA	BC073746.1	AAH73746.1
mRNA	BG701476.1	None
mRNA	BX647145.1	None
mRNA	EU719626.1	ACE06961.1
mRNA	M22382.1	AAA60127.1
mRNA	M34664.1	AAA36022.1
other-genetic	DQ893414.2	ABM84340.1
other-genetic	DQ896771.2	ABM87770.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P10809.2	GenPept	UniProtKB/Swiss-Prot:P10809
Q53QD5	GenPept	UniProtKB/TrEMBL:Q53QD5
Q53SE2	GenPept	UniProtKB/TrEMBL:Q53SE2