MGP Database

MGP004552

UniProt Annotations

Entry Information
Gene Namechaperonin containing TCP1, subunit 5 (epsilon)
Protein EntryTCPE_HUMAN
UniProt IDP48643
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P48643-1; Sequence=Displayed; Name=2; IsoId=P48643-2; Sequence=VSP_054005, VSP_054006; Note=No experimental confirmation available.;
DiseaseNeuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive (HSNSP) [MIM:256840]: A disease characterized by spastic paraplegia and progressive distal sensory neuropathy leading to mutilating ulcerations of the upper and lower limbs. {ECO:0000269|PubMed:16399879}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionMolecular chaperone; assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Known to play a role, in vitro, in the folding of actin and tubulin. {ECO:0000269|PubMed:20080638}.
InductionDown-regulated in response to enterovirus 71 (EV71) infection (at protein level). {ECO:0000269|PubMed:16548883}.
Sequence CautionSequence=BAA07894.2; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the TCP-1 chaperonin family. {ECO:0000305}.
Subcellular LocationCytoplasm {ECO:0000269|PubMed:20080638}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:20080638}.
SubunitHeterooligomeric complex of about 850 to 900 kDa that forms two stacked rings, 12 to 16 nm in diameter. Interacts with PACRG. Component of the BBS/CCT complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3, CCT4, CCT5 AND CCT8. Interacts with DYX1C1 (By similarity). {ECO:0000250}.
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