HSPD1
entrez
3329
canonical
uniprot
P10809
canonical
ensembl
ENSG00000144381
resolver
ensp
ENSP00000340019
resolver
ensp
ENSP00000373620
resolver
genesymbol
HSPD1
resolver
genesymbol_syn
HSP60
resolver
hgnc
HGNC:5261
resolver
uniprot
A0A024R3W0
resolver
uniprot
A0A024R3X4
resolver
uniprot
B2R5M6
resolver
uniprot
B7Z712
resolver
uniprot
Q38L19
resolver
uniprot
Q9UCR6
resolver
uniprot_entry
A0A024R3X4_HUMAN
resolver
uniprot_entry
CH60_HUMAN
resolver
uniprot_sec
A0A024R3W0
resolver
uniprot_sec
B2R5M6
resolver
uniprot_sec
B7Z712
resolver
uniprot_sec
Q38L19
resolver
uniprot_sec
Q9UCR6
resolver
amino_acid_sequence
MLRLPTVFRQMRPVSRVLAPHLTRAYAKDVKFGADARALMLQGVDLLADAVAVTMGPKGRTVIIEQSWGSPKVTKDGVTVAKSIDLKDKYKNIGAKLVQDVANNTNEEAGDGTTTATVLARSIAKEGFEKISKGANPVEIRRGVMLAVDAVIAELKKQSKPVTTPEEIAQVATISANGDKEIGNIISDAMKKVGRKGVITVKDGKTLNDELEIIEGMKFDRGYISPYFINTSKGQKCEFQDAYVLLSEKKISSIQSIVPALEIANAHRKPLVIIAEDVDGEALSTLVLNRLKVGLQVVAVKAPGFGDNRKNQLKDMAIATGGAVFGEEGLTLNLEDVQPHDLGKVGEVIVTKDDAMLLKGKGDKAQIEKRIQEIIEQLDVTTSEYEKEKLNERLAKLSDGVAVLKVGGTSDVEVNEKKDRVTDALNATRAAVEEGIVLGGGCALLRCIPALDSLTPANEDQKIGIEIIKRTLKIPAMTIAKNAGVEGSLIVEKIMQSSSEVGYDAMAGDFVNMVEKGIIDPTKVVRTALLDAAGVASLLTTAEVVVTEIPKEEKDPGMGAMGGMGGGMGGGMF
uniprot
proteins
disease_involvement
DISEASE: Spastic paraplegia 13, autosomal dominant (SPG13) [MIM:605280]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269|PubMed:11898127}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Leukodystrophy, hypomyelinating, 4 (HLD4) [MIM:612233]: A severe autosomal recessive hypomyelinating leukodystrophy. Clinically characterized by infantile-onset rotary nystagmus, progressive spastic paraplegia, neurologic regression, motor impairment, profound intellectual disability. Death usually occurs within the first two decades of life. {ECO:0000269|PubMed:18571143}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.6.1.7
uniprot
proteins
function
FUNCTION: Chaperonin implicated in mitochondrial protein import and macromolecular assembly. Together with Hsp10, facilitates the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix (PubMed:11422376, PubMed:1346131). The functional units of these chaperonins consist of heptameric rings of the large subunit Hsp60, which function as a back-to-back double ring. In a cyclic reaction, Hsp60 ring complexes bind one unfolded substrate protein per ring, followed by the binding of ATP and association with 2 heptameric rings of the co-chaperonin Hsp10. This leads to sequestration of the substrate protein in the inner cavity of Hsp60 where, for a certain period of time, it can fold undisturbed by other cell components. Synchronous hydrolysis of ATP in all Hsp60 subunits results in the dissociation of the chaperonin rings and the release of ADP and the folded substrate protein (Probable). {ECO:0000269|PubMed:11422376, ECO:0000269|PubMed:1346131, ECO:0000305|PubMed:25918392}.
uniprot
proteins
mass_dalton
61055
uniprot
proteins
protein_family
Chaperonin (HSP60) family
uniprot
proteins
pubmed
11422376
uniprot
proteins
pubmed
11898127
uniprot
proteins
pubmed
12483302
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
1286669
uniprot
proteins
pubmed
1346131
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15120623
uniprot
proteins
pubmed
15242332
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15592455
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
1731090
uniprot
proteins
pubmed
18571143
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
1972619
uniprot
proteins
pubmed
1980192
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
2079031
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21908771
uniprot
proteins
pubmed
22664726
uniprot
proteins
pubmed
22905912
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23349634
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24286120
uniprot
proteins
pubmed
2568584
uniprot
proteins
pubmed
25918392
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
2907406
uniprot
proteins
pubmed
7895732
uniprot
proteins
pubmed
9150946
uniprot
proteins
pubmed
9150948
uniprot
proteins
sequence_length
573
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix.
uniprot
proteins