CCT8: Chaperonin Containing TCP1 Subunit 8
A key component of the eukaryotic chaperonin complex involved in protein folding and cellular homeostasis
Gene Information Card
| Symbol | CCT8 |
|---|---|
| Full Name | Chaperonin Containing TCP1 Subunit 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q21.3 |
| NCBI Gene ID | 10694 ncbi.nlm.nih.gov/gene/10694 |
| Ensembl ID | ENSG00000156253 |
| UniProt ID | P50990 |
| OMIM ID | 605141 |
| HGNC ID | 1242 |
| Aliases | CCT-theta, CCTQ, TCP-1-theta, MGC3801 |
Description
CCT8 encodes the theta subunit of the chaperonin containing TCP1 complex (CCT), a group II chaperonin that assists in the folding of cytosolic proteins, including actin, tubulin, and other proteins involved in cell cycle regulation and signal transduction. The CCT complex is composed of eight subunits (CCT1-8) arranged in a double-ring structure. CCT8 is essential for proper protein folding and cellular function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia (HSP) | Mutations in CCT8 may impair protein folding, leading to axonal degeneration | PMID: 25401298 |
| Cancer (various types) | Overexpression of CCT8 supports tumor growth by stabilizing oncogenic proteins | PMID: 31570863 |
| Neurodegenerative disorders | CCT8 dysfunction contributes to protein aggregation in Huntington's and Alzheimer's disease | PMID: 21832049 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.6 | High |
| Brain | 18.3 | Medium |
| Heart | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Kidney | 11.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 28.5 | Cervical cancer cell line |
| HEK293 | 22.1 | Embryonic kidney cell line |
| K562 | 19.7 | Leukemia cell line |
| MCF7 | 16.3 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1247G>A (p.Arg416His) | Missense | <0.01% | Impaired complex assembly; associated with HSP |
| c.1690C>T (p.Arg564Trp) | Missense | <0.01% | Reduced chaperonin activity |
| c.214_215insA (p.Thr72Asnfs*2) | Frameshift | <0.01% | Loss of function; rare |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated or absent CCT8 protein, impairing chaperonin function.
Gain of Function (GOF)
Not well documented; overexpression in cancers may act as a gain-of-function by stabilizing oncoproteins.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg416His) may disrupt complex assembly, exerting a dominant-negative effect.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding (GO:0005524) | • chaperonin-containing T-complex (GO:0005832) |
| • protein folding (GO:0006457) | • cellular protein metabolic process (GO:0044267) |
| • unfolded protein binding (GO:0051082) |
Pathways
• Chaperonin-mediated protein folding (Reactome: R-HSA-390466)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
• T-cell receptor signaling pathway (KEGG: hsa04660)
Protein Summary
CCT8 is a 59.6 kDa protein (548 amino acids) that forms part of the CCT complex. It contains an ATPase domain and is essential for the ATP-dependent folding of cytoskeletal proteins like actin and tubulin. The protein is highly conserved across eukaryotes and is expressed ubiquitously, with highest levels in testis and brain. Post-translational modifications include phosphorylation and acetylation, which regulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCT8L2 Knockout HEK293 Cell Line | EDJ-KQ11259 | Human | 150160 | Details Get a Quote |
| CCT8L2 Knockout HeLa Cell Line | EDJ-KQ58649 | Human | 150160 | Details Get a Quote |
| CCT8L2 Knockout A-549 Cell Line | EDJ-KQ67131 | Human | 150160 | Details Get a Quote |
| CCT8L2 Knockout HCT 116 Cell Line | EDJ-KQ75537 | Human | 150160 | Details Get a Quote |
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