CCT5 gene

chaperonin containing TCP1 subunit 5

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Apr 2015]

From UniProt:

Molecular 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.

From NCBI Gene:

  • Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive

From UniProt:

Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive (HSNSP): A disease characterized by spastic paraplegia and progressive distal sensory neuropathy leading to mutilating ulcerations of the upper and lower limbs. [MIM:256840]

Cytogenetic Location: 5p15.2, which is the short (p) arm of chromosome 5 at position 15.2

Molecular Location: base pairs 10,249,921 to 10,266,412 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5p15.2, which is the short (p) arm of chromosome 5 at position 15.2
  • CCT-epsilon
  • CCTE
  • HEL-S-69
  • PNAS-102
  • TCP-1-epsilon