Gene Gene information from NCBI Gene database.
Entrez ID 22948
Gene name Chaperonin containing TCP1 subunit 5
Gene symbol CCT5
Synonyms (NCBI Gene)
CCT-epsilonCCTEHEL-S-69HSNSPPNAS-102TCP-1-epsilon
Chromosome 5
Chromosome location 5p15.2
Summary 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 p
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs118203986 A>G Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs141675330 C>G Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
180
miRTarBase ID miRNA Experiments Reference
MIRT022974 hsa-miR-124-3p Microarray 18668037
MIRT050415 hsa-miR-23a-3p CLASH 23622248
MIRT038196 hsa-miR-151a-5p CLASH 23622248
MIRT036657 hsa-miR-935 CLASH 23622248
MIRT035787 hsa-miR-1914-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003730 Function MRNA 3'-UTR binding IDA 16213212
GO:0005515 Function Protein binding IPI 14532270, 16169070, 16189514, 22653443, 24375412, 25467444, 30021884, 32296183, 32814053, 33144677, 33961781, 35140242, 35271311
GO:0005524 Function ATP binding IEA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610150 1618 ENSG00000150753
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P48643
Protein name T-complex protein 1 subunit epsilon (TCP-1-epsilon) (EC 3.6.1.-) (CCT-epsilon) (Chaperonin containing T-complex polypeptide 1 subunit 5)
Protein function Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of actin, tubulin and other proteins upon ATP hydrolysis (PubMed:25467444, PubMed:36493755, PubMed:35449234, PubMed:37193829). The TR
PDB 5UYX , 5UYZ , 6NR8 , 6NR9 , 6NRA , 6NRB , 6NRC , 6NRD , 6QB8 , 7LUM , 7LUP , 7NVL , 7NVM , 7NVN , 7NVO , 7TRG , 7TTN , 7TTT , 7TUB , 7WU7 , 7WZ3 , 7X0A , 7X0S , 7X0V , 7X3J , 7X3U , 7X6Q , 7X7Y , 8AJM , 8AJO , 8HKI , 8I1U , 8I9U , 8IB8 , 8SFE , 8SFF , 8SG8 , 8SG9 , 8SGC , 8SGL , 8SGQ , 8SH9 , 8SHA , 8SHD , 8SHE , 8SHF , 8SHG , 8SHL , 8SHN , 8SHO , 8SHP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00118 Cpn60_TCP1 44 537 TCP-1/cpn60 chaperonin family Family
Sequence
Sequence length 541
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Association of TriC/CCT with target proteins during biosynthesis
BBSome-mediated cargo-targeting to cilium
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
289
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary sensory and autonomic neuropathy with spastic paraplegia Likely pathogenic rs925661175 RCV002465414
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CCT5-related disorder Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign rs118203986, rs2477397404, rs373992745, rs2477481532, rs150870419, rs781230840, rs142127415, rs201641048, rs773556943 RCV003952334
RCV004731287
RCV003963519
RCV004731543
RCV003925648
RCV003905732
RCV003965359
RCV003953145
RCV003975376
Cervical cancer Uncertain significance rs2607286 RCV005913935
Familial cancer of breast Benign; Uncertain significance rs376551309, rs148752621 RCV005869695
RCV005897904
Gastric cancer Uncertain significance rs2607286 RCV005913937
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 19903339
Adenocarcinoma of Lung Associate 34217974
Breast Neoplasms Associate 32235890
Carcinoma Hepatocellular Associate 34522182
Carcinoma Non Small Cell Lung Associate 23006423
Colorectal Neoplasms Associate 19098285, 34120619
Demyelinating Diseases Associate 33076433
Dystonic Disorders Associate 16399879
Hereditary Sensory and Autonomic Neuropathies Associate 28623285, 33076433
Median Neuropathy Associate 25345891