CCT5 Gene - Chaperonin Containing TCP1 Subunit 5
CCT5: A key molecular chaperone in protein folding and its role in hereditary sensory neuropathy
Gene Information Card
| Symbol | CCT5 |
|---|---|
| Full Name | Chaperonin Containing TCP1 Subunit 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 5p15.2 |
| NCBI Gene ID | 22948 ncbi.nlm.nih.gov/gene/22948 |
| Ensembl ID | ENSG00000150753 |
| UniProt ID | P48643 |
| OMIM ID | 610150 |
| HGNC ID | 1618 |
| Aliases | CCT-epsilon, CCTE, TCP-1-epsilon |
Description
The CCT5 gene encodes the epsilon subunit of the chaperonin containing TCP1 complex (CCT), a molecular chaperone that assists in the folding of cytosolic proteins, particularly actin and tubulin. Mutations in CCT5 are associated with hereditary sensory neuropathy with spastic paraplegia (HSNSP), a rare autosomal recessive disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary sensory neuropathy with spastic paraplegia (HSNSP) | Loss-of-function mutations in CCT5 impair protein folding, leading to neuronal dysfunction and degeneration. | OMIM #256840; ClinVar |
| Charcot-Marie-Tooth disease (CMT) | Rare CCT5 variants may contribute to peripheral neuropathy, though evidence is limited. | ClinVar; NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.8 | Medium |
| Heart | 8.3 | Low |
| Liver | 7.1 | Low |
| Skeletal muscle | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 12.1 | Medium expression |
| K562 | 9.8 | Medium expression |
| SH-SY5Y | 14.5 | High expression (neuronal model) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.157C>T (p.Arg53*) | Nonsense | Rare | Loss of function; associated with HSNSP |
| c.457G>A (p.Gly153Ser) | Missense | Rare | Likely damaging; reported in neuropathy |
| c.1003C>T (p.Arg335Trp) | Missense | Rare | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in CCT5 lead to truncated protein or nonsense-mediated decay, reducing chaperonin activity and causing HSNSP.
Gain of Function (GOF)
No gain-of-function mutations reported for CCT5.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • chaperonin-containing T-complex (GO:0005832) | • unfolded protein binding (GO:0051082) |
| • protein folding (GO:0006457) | • tubulin complex assembly (GO:0007021) |
| • endoplasmic reticulum organization (GO:0007029) | • protein refolding (GO:0042026) |
Pathways
• Protein folding (chaperonin) - Reactome R-HSA-390466
• Chaperonin-mediated protein folding - KEGG hsa03050
• Tubulin folding pathway - WikiPathways WP419
Protein Summary
CCT5 is the epsilon subunit of the hetero-oligomeric chaperonin containing TCP1 complex (CCT), which consists of eight distinct subunits. This complex facilitates ATP-dependent folding of cytosolic proteins, including actin and tubulin, which are critical for cytoskeletal integrity. Mutations in CCT5 disrupt this folding process, leading to neuronal degeneration and hereditary sensory neuropathy.
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