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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hereditary sensory and autonomic neuropathy with spastic paraplegia Likely pathogenic rs925661175 RCV002465414
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CCT5-related disorder Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 27602772
★☆☆☆☆
Found in Text Mining only
Atrophy of the spinal cord Atrophy of the spinal cord HPO_DG
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG 17659439
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 32235890 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34522182 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 19098285
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 19098285, 34120619 Associate
★☆☆☆☆
Found in Text Mining only
Demyelinating Diseases Demyelinating diseases Pubtator 33076433 Associate
★☆☆☆☆
Found in Text Mining only
Distal amyotrophy Distal amyotrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Dysautonomia Dysautonomia HPO_DG
★☆☆☆☆
Found in Text Mining only