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MGP001522

UniProt Annotations

Entry Information

Gene Name	heat shock 60kDa protein 1 (chaperonin)
Protein Entry	CH60_HUMAN
UniProt ID	P10809
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P10809-1; Sequence=Displayed; Name=2; IsoId=P10809-2; Sequence=VSP_056144, VSP_056145; Note=No experimental confirmation available.;
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 mental retardation. Death usually occurs within the first two decades of life. {ECO:0000269\|PubMed:18571143}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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 mutations affecting the gene represented in this entry.
Function	Implicated in mitochondrial protein import and macromolecular assembly. May facilitate 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.
Interaction	P38398:BRCA1; NbExp=2; IntAct=EBI-352528, EBI-349905; P49789:FHIT; NbExp=5; IntAct=EBI-352528, EBI-741760; Q9Y4C4:MFHAS1; NbExp=3; IntAct=EBI-352528, EBI-2864441;
Similarity	Belongs to the chaperonin (HSP60) family. {ECO:0000305}.
Subcellular Location	Mitochondrion matrix.
Subunit	Interacts with HRAS (By similarity). Interacts with HBV protein X and HTLV-1 protein p40tax. Interacts with ATAD3A. Interacts with METTL20 and METTL21B. {ECO:0000250, ECO:0000269\|PubMed:15120623, ECO:0000269\|PubMed:1731090, ECO:0000269\|PubMed:22664726, ECO:0000269\|PubMed:23349634}.
Web Resource	Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/HSPD1ID40888ch2q33.html";