Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3329
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol HSPD1   Gene   UCSC   Ensembl
Aliases CPN60, GROEL, HLD4, HSP-60, HSP60, HSP65, HuCHA60, SPG13
Gene name heat shock protein family D (Hsp60) member 1
Alternate names 60 kDa heat shock protein, mitochondrial, 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,
Gene location 2q33.1 (197500273: 197486583)     Exons: 13     NC_000002.12
Gene summary(Entrez) 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]
OMIM 118190

Protein Summary

Protein general information P10809  

Name: 60 kDa heat shock protein, mitochondrial (EC 3.6.4.9) (60 kDa chaperonin) (Chaperonin 60) (CPN60) (Heat shock protein 60) (HSP 60) (Hsp60) (HuCHA60) (Mitochondrial matrix protein P1) (P60 lymphocyte protein)

Length: 573  Mass: 61,055

Sequence MLRLPTVFRQMRPVSRVLAPHLTRAYAKDVKFGADARALMLQGVDLLADAVAVTMGPKGRTVIIEQSWGSPKVTK
DGVTVAKSIDLKDKYKNIGAKLVQDVANNTNEEAGDGTTTATVLARSIAKEGFEKISKGANPVEIRRGVMLAVDA
VIAELKKQSKPVTTPEEIAQVATISANGDKEIGNIISDAMKKVGRKGVITVKDGKTLNDELEIIEGMKFDRGYIS
PYFINTSKGQKCEFQDAYVLLSEKKISSIQSIVPALEIANAHRKPLVIIAEDVDGEALSTLVLNRLKVGLQVVAV
KAPGFGDNRKNQLKDMAIATGGAVFGEEGLTLNLEDVQPHDLGKVGEVIVTKDDAMLLKGKGDKAQIEKRIQEII
EQLDVTTSEYEKEKLNERLAKLSDGVAVLKVGGTSDVEVNEKKDRVTDALNATRAAVEEGIVLGGGCALLRCIPA
LDSLTPANEDQKIGIEIIKRTLKIPAMTIAKNAGVEGSLIVEKIMQSSSEVGYDAMAGDFVNMVEKGIIDPTKVV
RTALLDAAGVASLLTTAEVVVTEIPKEEKDPGMGAMGGMGGGMGGGMF
Structural information
Interpro:  IPR018370 IPR001844 IPR002423 IPR027409 IPR027413
Prosite:   PS00296

Pfam:  
PF00118

PDB:  
4PJ1
PDBsum:   4PJ1

DIP:  
58
MINT:   1162735
STRING:   ENSP00000340019;
Other Databases GeneCards:  HSPD1;  Malacards:  HSPD1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001530 lipopolysaccharide bindin
g
IDA molecular_function
GO:0002039 p53 binding
IPI molecular_function
GO:0002368 B cell cytokine productio
n
IDA biological_process
GO:0002755 MyD88-dependent toll-like
receptor signaling pathw
ay
IDA biological_process
GO:0002842 positive regulation of T
cell mediated immune resp
onse to tumor cell
IDA biological_process
GO:0003688 DNA replication origin bi
nding
ISS molecular_function
GO:0003697 single-stranded DNA bindi
ng
ISS molecular_function
GO:0003725 double-stranded RNA bindi
ng
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005615 extracellular space
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005743 mitochondrial inner membr
ane
ISS cellular_component
GO:0005759 mitochondrial matrix
TAS cellular_component
GO:0005769 early endosome
IDA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005905 clathrin-coated pit
IDA cellular_component
GO:0006458 'de novo' protein folding
ISS biological_process
GO:0006919 activation of cysteine-ty
pe endopeptidase activity
involved in apoptotic pr
ocess
IDA biological_process
GO:0006986 response to unfolded prot
ein
IDA biological_process
GO:0009409 response to cold
ISS biological_process
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0016032 viral process
IEA biological_process
GO:0016887 ATPase activity
ISS molecular_function
GO:0030135 coated vesicle
IDA cellular_component
GO:0030141 secretory granule
ISS cellular_component
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0032727 positive regulation of in
terferon-alpha production
IDA biological_process
GO:0032729 positive regulation of in
terferon-gamma production
ISS biological_process
GO:0032729 positive regulation of in
terferon-gamma production
IDA biological_process
GO:0032729 positive regulation of in
terferon-gamma production
IDA biological_process
GO:0032733 positive regulation of in
terleukin-10 production
IDA biological_process
GO:0032735 positive regulation of in
terleukin-12 production
IDA biological_process
GO:0032755 positive regulation of in
terleukin-6 production
IDA biological_process
GO:0042026 protein refolding
IDA biological_process
GO:0042100 B cell proliferation
IDA biological_process
GO:0042110 T cell activation
IDA biological_process
GO:0042110 T cell activation
IDA biological_process
GO:0042110 T cell activation
IDA biological_process
GO:0042113 B cell activation
IDA biological_process
GO:0043032 positive regulation of ma
crophage activation
IDA biological_process
GO:0043065 positive regulation of ap
optotic process
IMP biological_process
GO:0043066 negative regulation of ap
optotic process
IMP biological_process
GO:0043066 negative regulation of ap
optotic process
IMP biological_process
GO:0043234 protein complex
IDA cellular_component
GO:0044822 poly(A) RNA binding
IDA molecular_function
GO:0046696 lipopolysaccharide recept
or complex
IDA cellular_component
GO:0048291 isotype switching to IgG
isotypes
IDA biological_process
GO:0050821 protein stabilization
ISS biological_process
GO:0050821 protein stabilization
IMP biological_process
GO:0050870 positive regulation of T
cell activation
ISS biological_process
GO:0050870 positive regulation of T
cell activation
IDA biological_process
GO:0050870 positive regulation of T
cell activation
IDA biological_process
GO:0051082 unfolded protein binding
ISS molecular_function
GO:0051082 unfolded protein binding
IC molecular_function
GO:0051087 chaperone binding
IPI molecular_function
GO:0051131 chaperone-mediated protei
n complex assembly
ISS biological_process
GO:0051604 protein maturation
ISS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0019907 cyclin-dependent protein
kinase activating kinase
holoenzyme complex
IDA cellular_component
GO:0000166 nucleotide binding
IEA molecular_function
GO:0001530 lipopolysaccharide bindin
g
IDA molecular_function
GO:0002039 p53 binding
IPI molecular_function
GO:0002368 B cell cytokine productio
n
IDA biological_process
GO:0002755 MyD88-dependent toll-like
receptor signaling pathw
ay
IDA biological_process
GO:0002842 positive regulation of T
cell mediated immune resp
onse to tumor cell
IDA biological_process
GO:0003688 DNA replication origin bi
nding
ISS molecular_function
GO:0003697 single-stranded DNA bindi
ng
ISS molecular_function
GO:0003725 double-stranded RNA bindi
ng
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005615 extracellular space
IDA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005739 mitochondrion
IEA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005743 mitochondrial inner membr
ane
ISS cellular_component
GO:0005759 mitochondrial matrix
IEA cellular_component
GO:0005759 mitochondrial matrix
TAS cellular_component
GO:0005769 early endosome
IDA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005905 clathrin-coated pit
IDA cellular_component
GO:0006457 protein folding
IEA biological_process
GO:0006458 'de novo' protein folding
ISS biological_process
GO:0006919 activation of cysteine-ty
pe endopeptidase activity
involved in apoptotic pr
ocess
IDA biological_process
GO:0006986 response to unfolded prot
ein
IDA biological_process
GO:0009409 response to cold
ISS biological_process
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0016032 viral process
IEA biological_process
GO:0016887 ATPase activity
ISS molecular_function
GO:0030135 coated vesicle
IDA cellular_component
GO:0030141 secretory granule
ISS cellular_component
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0032727 positive regulation of in
terferon-alpha production
IDA biological_process
GO:0032729 positive regulation of in
terferon-gamma production
ISS biological_process
GO:0032729 positive regulation of in
terferon-gamma production
IDA biological_process
GO:0032729 positive regulation of in
terferon-gamma production
IDA biological_process
GO:0032733 positive regulation of in
terleukin-10 production
IDA biological_process
GO:0032735 positive regulation of in
terleukin-12 production
IDA biological_process
GO:0032755 positive regulation of in
terleukin-6 production
IDA biological_process
GO:0042026 protein refolding
IEA biological_process
GO:0042026 protein refolding
IDA biological_process
GO:0042100 B cell proliferation
IDA biological_process
GO:0042110 T cell activation
IDA biological_process
GO:0042110 T cell activation
IDA biological_process
GO:0042110 T cell activation
IDA biological_process
GO:0042113 B cell activation
IDA biological_process
GO:0043032 positive regulation of ma
crophage activation
IDA biological_process
GO:0043065 positive regulation of ap
optotic process
IMP biological_process
GO:0043066 negative regulation of ap
optotic process
IMP biological_process
GO:0043066 negative regulation of ap
optotic process
IMP biological_process
GO:0043234 protein complex
IDA cellular_component
GO:0044822 poly(A) RNA binding
IDA molecular_function
GO:0046696 lipopolysaccharide recept
or complex
IDA cellular_component
GO:0048291 isotype switching to IgG
isotypes
IDA biological_process
GO:0050821 protein stabilization
ISS biological_process
GO:0050821 protein stabilization
IMP biological_process
GO:0050870 positive regulation of T
cell activation
ISS biological_process
GO:0050870 positive regulation of T
cell activation
IDA biological_process
GO:0050870 positive regulation of T
cell activation
IDA biological_process
GO:0051082 unfolded protein binding
ISS molecular_function
GO:0051082 unfolded protein binding
IC molecular_function
GO:0051087 chaperone binding
IPI molecular_function
GO:0051131 chaperone-mediated protei
n complex assembly
ISS biological_process
GO:0051604 protein maturation
ISS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0019907 cyclin-dependent protein
kinase activating kinase
holoenzyme complex
IDA cellular_component
GO:0001530 lipopolysaccharide bindin
g
IDA molecular_function
GO:0002039 p53 binding
IPI molecular_function
GO:0002368 B cell cytokine productio
n
IDA biological_process
GO:0002755 MyD88-dependent toll-like
receptor signaling pathw
ay
IDA biological_process
GO:0002842 positive regulation of T
cell mediated immune resp
onse to tumor cell
IDA biological_process
GO:0003688 DNA replication origin bi
nding
ISS molecular_function
GO:0003697 single-stranded DNA bindi
ng
ISS molecular_function
GO:0003725 double-stranded RNA bindi
ng
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005615 extracellular space
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005743 mitochondrial inner membr
ane
ISS cellular_component
GO:0005759 mitochondrial matrix
TAS cellular_component
GO:0005769 early endosome
IDA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005905 clathrin-coated pit
IDA cellular_component
GO:0006458 'de novo' protein folding
ISS biological_process
GO:0006919 activation of cysteine-ty
pe endopeptidase activity
involved in apoptotic pr
ocess
IDA biological_process
GO:0006986 response to unfolded prot
ein
IDA biological_process
GO:0009409 response to cold
ISS biological_process
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0016887 ATPase activity
ISS molecular_function
GO:0030135 coated vesicle
IDA cellular_component
GO:0030141 secretory granule
ISS cellular_component
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0032727 positive regulation of in
terferon-alpha production
IDA biological_process
GO:0032729 positive regulation of in
terferon-gamma production
ISS biological_process
GO:0032729 positive regulation of in
terferon-gamma production
IDA biological_process
GO:0032729 positive regulation of in
terferon-gamma production
IDA biological_process
GO:0032733 positive regulation of in
terleukin-10 production
IDA biological_process
GO:0032735 positive regulation of in
terleukin-12 production
IDA biological_process
GO:0032755 positive regulation of in
terleukin-6 production
IDA biological_process
GO:0042026 protein refolding
IDA biological_process
GO:0042100 B cell proliferation
IDA biological_process
GO:0042110 T cell activation
IDA biological_process
GO:0042110 T cell activation
IDA biological_process
GO:0042110 T cell activation
IDA biological_process
GO:0042113 B cell activation
IDA biological_process
GO:0043032 positive regulation of ma
crophage activation
IDA biological_process
GO:0043065 positive regulation of ap
optotic process
IMP biological_process
GO:0043066 negative regulation of ap
optotic process
IMP biological_process
GO:0043066 negative regulation of ap
optotic process
IMP biological_process
GO:0043234 protein complex
IDA cellular_component
GO:0044822 poly(A) RNA binding
IDA molecular_function
GO:0046696 lipopolysaccharide recept
or complex
IDA cellular_component
GO:0048291 isotype switching to IgG
isotypes
IDA biological_process
GO:0050821 protein stabilization
ISS biological_process
GO:0050821 protein stabilization
IMP biological_process
GO:0050870 positive regulation of T
cell activation
ISS biological_process
GO:0050870 positive regulation of T
cell activation
IDA biological_process
GO:0050870 positive regulation of T
cell activation
IDA biological_process
GO:0051082 unfolded protein binding
ISS molecular_function
GO:0051082 unfolded protein binding
IC molecular_function
GO:0051087 chaperone binding
IPI molecular_function
GO:0051131 chaperone-mediated protei
n complex assembly
ISS biological_process
GO:0051604 protein maturation
ISS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0019907 cyclin-dependent protein
kinase activating kinase
holoenzyme complex
IDA cellular_component

KEGG pathways

hsa05152  Tuberculosis
hsa05134  Legionellosis
hsa04940  Type I diabetes mellitus
hsa03018  RNA degradation

Diseases

Associated diseases References
Alzheimer's disease PMID: 19141999
Coronary disease PMID: 19336475
Endometriosis PMID: 14750702
Recurrent pregnancy loss (RPL)/ Abortion/ Miscarriage/ Recurrent pregnancy failure/Pregnancy loss/ Recurrent miscarriage/ Spontaneous abortion PMID: 9689358
Female infertility PMID: 18476087
Hereditary spastic paraplegia KEGG: H00266
Hypomyelinating leukodystrophy KEGG: H00679
Leukodystrophy OMIM: 118190
Male infertility PMID: 8717331
Multiple sclerosis PMID: 17420921
Preeclampsia PMID: 24051131
Female infertility INFBASE9689358
Spontaneous abortion INFBASE9689358
Endometriosis INFBASE9689358
Spastic paraplegia OMIM: 118190

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
14750702 Endometrio
sis


Hsp60
Show abstract
9689358 Endometrio
sis

151 (110 female
partners of in
fertile couples
undergoing in
vitro fertiliza
tion, 41 fertil
e control subje
cts)
Female infertility
Show abstract