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60 kD heat shock protein, mitochondrial; heat shock protein 60; HSP-60; Hsp60; 60 kD chaperonin; chaperonin 60; CPN60; mitochondrial matrix protein P1; P60 lymphocyte protein; HuCHA60 (HSPD1, HSP60)

Chaperonin-60 complexes with chaperonin-10 & shows weak ATPase activity. Function: - implicated in mitochondrial protein import & macromolecular assembly - may facilitate the correct folding of imported proteins - may also prevent misfolding & promote the refolding & proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix - interacts with HBV protein X & HTLV-1 protein p40tax Structure: belongs to the chaperonin (HSP60) family Compartment: mitochondrial matrix Pathology: - defects in HSPD1 are a cause of spastic paraplegia type-13, autosomal dominant - defects in HSPD1 are the cause of leukodystrophy hypomyelinating type 4 Laboratory: - heat shock protein 60 Ab in serum/plasma

General

adenosine triphosphatase (ATPase) chaperonin; chaperone heat shock protein mitochondrial protein

Properties

SIZE: entity length = 573 aa MW = 61 kD COMPARTMENT: mitochondrial matrix MOTIF: Ser phosphorylation site {S70} Tyr phosphorylation site {Y223} Tyr phosphorylation site {Y227}

Database Correlations

OMIM correlations MORBIDMAP 118190 UniProt P10809 Pfam PF00118 Entrez Gene 3329 Kegg hsa:3329

References

  1. UniProt :accession P10809
  2. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPD1
  3. Atlas of Genetics & Cytogenetics in Oncology & Haematology http://atlasgeneticsoncology.org/genes/HSPD1ID40888ch2q33.html