TBCA: Tubulin Folding Cofactor A
A key chaperone in alpha/beta-tubulin folding and microtubule assembly
Gene Information Card
| Symbol | TBCA |
|---|---|
| Full Name | Tubulin Folding Cofactor A |
| Gene Type | Protein coding |
| Chromosomal Location | 5q14.1 |
| NCBI Gene ID | 6902 ncbi.nlm.nih.gov/gene/6902 |
| Ensembl ID | ENSG00000113522 |
| UniProt ID | O75347 |
| OMIM ID | 601143 |
| HGNC ID | 11578 |
| Aliases | TBCA, tubulin-specific chaperone A, cofactor A |
Description
TBCA encodes tubulin folding cofactor A, a chaperone protein involved in the post-translational folding of alpha- and beta-tubulin. It binds to beta-tubulin intermediates and facilitates their incorporation into microtubules. TBCA is part of the tubulin folding pathway that includes cofactors B–E and is essential for proper microtubule dynamics and cellular structure.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | ClinVar, 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 |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney |
| HeLa | 8.5 | Cervical carcinoma |
| K562 | 7.1 | Leukemia |
| A549 | 6.8 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown significance |
| c.100C>T | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • tubulin folding (GO:0007021) | • post-chaperonin tubulin folding pathway (GO:0007023) |
| • cytoplasm (GO:0005737) | • protein binding (GO:0005515) |
| • beta-tubulin binding (GO:0048487) |
Pathways
• REACT:14797 – Tubulin folding and post-chaperonin pathway
• KEGG:04141 – Protein processing in endoplasmic reticulum
Protein Summary
TBCA is a 108-amino-acid protein (12.4 kDa) that acts as a cofactor in the tubulin folding pathway. It specifically binds to beta-tubulin after release from the chaperonin CCT, preventing aggregation and promoting correct folding. TBCA then transfers beta-tubulin to cofactor D for dimerization with alpha-tubulin. The protein is ubiquitously expressed with highest levels in testis and brain.
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|---|---|---|---|---|
| No Data | ||||
