TCP1 epsilon ist ein Gen, das durch das Symbol CCT5 kodiert wird. Es ist auch bekannt als: T-complex protein 1 subunit epsilon; TCP-1-epsilon; CCT-epsilon; CCT5; CCTE; KIAA0098. TCP1 epsilon hat eine Masse von 59.67kDa, eine Aminosäurelänge von 541, und ist an Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive beteiligt.
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Gen- und Proteininformationen
UniProt Zusammenfassung
Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis (PubMed:25467444). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). The TRiC complex plays a role in the folding of actin and tubulin (Probable).
Entrez Zusammenfassung
The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13.
Rolle bei Krankheiten
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive: A disease characterized by spastic paraplegia and progressive distal sensory neuropathy leading to mutilating ulcerations of the upper and lower limbs.
Sequenzähnlichkeiten
Belongs to the TCP-1 chaperonin family.
Zellort
Cytoplasm. Cytoplasm > Cytoskeleton > Microtubule organizing center > Centrosome.