TBCC Gene - Tubulin Folding Cofactor C
Essential regulator of tubulin folding and microtubule dynamics
Gene Information Card
| Symbol | TBCC |
|---|---|
| Full Name | Tubulin Folding Cofactor C |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 6903 ncbi.nlm.nih.gov/gene/6903 |
| Ensembl ID | ENSG00000112319 |
| UniProt ID | Q99426 |
| OMIM ID | 601156 |
| HGNC ID | 11566 |
| Aliases | TBC, TUBB, cofactor C |
Description
The TBCC gene encodes tubulin folding cofactor C, a protein involved in the post-chaperonin tubulin folding pathway. It interacts with other cofactors to facilitate the formation of native alpha/beta-tubulin heterodimers, which are essential for microtubule assembly and function. Mutations in TBCC are associated with Bardet-Biedl syndrome and other ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bardet-Biedl syndrome | Disruption of tubulin folding and ciliary function | ClinVar, OMIM |
| Retinitis pigmentosa | Impaired microtubule dynamics in photoreceptor cells | ClinVar |
| Ciliopathy | Defective cilia assembly due to tubulin misfolding | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 8.7 | Moderate expression |
| K562 | 6.3 | Low expression |
| A549 | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.418C>T (p.Arg140Trp) | Missense | Rare | Loss of tubulin binding |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein expression |
| c.649G>A (p.Gly217Arg) | Missense | Rare | Impaired cofactor interaction |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish tubulin folding activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense variants may interfere with wild-type cofactor function.
View complete mutation data：
Gene Ontology (GO)
| • tubulin folding (GO:0007021) | • post-chaperonin tubulin folding pathway (GO:0007023) |
| • cytoplasm (GO:0005737) | • microtubule (GO:0005874) |
| • protein binding (GO:0005515) |
Pathways
• Tubulin folding pathway (R-HSA-389977)
• Formation of tubulin folding intermediates (R-HSA-389958)
Protein Summary
Tubulin folding cofactor C is a 244-amino acid protein that participates in the final steps of tubulin heterodimer formation. It binds to beta-tubulin and, together with cofactors D and E, promotes the release of native tubulin dimers. The protein is localized in the cytoplasm and is ubiquitously expressed, with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBCCD1 Knockout HEK293 Cell Line | EDJ-KQ15653 | Human | 55171 | Details Get a Quote |
| TBCCD1 Knockout A-549 Cell Line | EDJ-KQ46555 | Human | 55171 | Details Get a Quote |
| TBCCD1 Knockout HCT 116 Cell Line | EDJ-KQ46556 | Human | 55171 | Details Get a Quote |
| TBCCD1 Knockout HeLa Cell Line | EDJ-KQ46557 | Human | 55171 | Details Get a Quote |
