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Gene : CCT5 Homo sapiens

Name  ? chaperonin containing TCP1 subunit 5 Cytological Location  5p15.2
Brief Description  chaperonin containing TCP1 subunit 5
Description  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]
  • synonyms:
  • HEL-S-69,
  • D43950,
  • TCP-1-epsilon,
  • CCT-epsilon,
  • KIAA0098,
  • CCTE,
  • PNAS-102,
  • OTTHUMG00000131042,
  • HGNC:1618,
  • NM_001306153,
  • CCT5,
  • chaperonin containing TCP1, subunit 5 (epsilon),
  • uc003jeq.4
  • identifiers:
  • 22948,
  • ENSG00000150753,
  • CCT5

Genome feature

Region: gene ? Length: 16492  
Location: 5:10249921-10266412 Cyto location: 5p15.2


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Gene -> HPO annotation (Human Phenotype Ontology)

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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

3753 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results