CCT6A: Chaperonin Containing TCP1 Subunit 6A
A key molecular chaperone in protein folding and cellular homeostasis
Gene Information Card
| Symbol | CCT6A |
|---|---|
| Full Name | Chaperonin Containing TCP1 Subunit 6A |
| Gene Type | Protein coding |
| Chromosomal Location | 7p11.2 |
| NCBI Gene ID | 908 ncbi.nlm.nih.gov/gene/908 |
| Ensembl ID | ENSG00000146731 |
| UniProt ID | P40227 |
| OMIM ID | 600104 |
| HGNC ID | 1621 |
| Aliases | CCT6, CCT-zeta-1, TCP20, CCT-zeta, CCT-zeta-1 subunit |
Description
The CCT6A gene encodes subunit 6A of the chaperonin containing TCP1 complex (CCT), a group II chaperonin that assists in the folding of cytosolic proteins, including actin and tubulin. The CCT complex is essential for proper protein folding, cell cycle progression, and cytoskeletal organization. CCT6A is ubiquitously expressed and has been implicated in various cancers and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression of CCT6A promotes cell proliferation and metastasis by enhancing protein folding of oncogenic clients | COSMIC, NCBI Gene |
| Neurodegenerative diseases | Dysregulation of CCT complex may impair clearance of misfolded proteins, contributing to aggregation | NCBI Gene, UniProt |
| Developmental disorders | Rare variants in CCT6A may disrupt chaperonin function, affecting cytoskeletal integrity | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Brain | 28.1 | Medium |
| Heart | 22.5 | Medium |
| Liver | 18.9 | Medium |
| Lung | 15.3 | Medium |
| Kidney | 14.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 35.6 | Cervical cancer cell line |
| HEK293 | 30.2 | Embryonic kidney cell line |
| A549 | 28.9 | Lung cancer cell line |
| MCF7 | 25.4 | Breast cancer cell line |
| K562 | 22.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1010A>G (p.Tyr337Cys) | Missense | Rare | Unknown functional effect; reported in ClinVar |
| c.1243G>A (p.Gly415Arg) | Missense | Rare | Likely benign |
| c.1456C>T (p.Arg486Trp) | Missense | Rare | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in CCT6A.
Gain of Function (GOF)
Overexpression in cancers suggests potential gain-of-function role in tumorigenesis.
Dominant Negative (DN)
Not documented for CCT6A.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • Unfolded protein binding |
| • Protein folding | • Chaperone cofactor-dependent protein refolding |
| • Cytoskeleton organization | • Cell cycle |
Pathways
• Chaperonin-mediated protein folding
• Protein processing in endoplasmic reticulum
• Tubulin folding pathway
Protein Summary
CCT6A is a 60 kDa subunit of the heterooligomeric CCT complex, which consists of eight distinct subunits (CCT1-8). The complex forms a double-ring structure that encapsulates unfolded proteins and facilitates their ATP-dependent folding. CCT6A specifically interacts with actin and tubulin, and its expression is upregulated in proliferating cells. The protein is localized in the cytoplasm and is essential for cell viability.
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