TBCB: Tubulin Folding Cofactor B
A key regulator of microtubule dynamics and tubulin folding
Gene Information Card
| Symbol | TBCB |
|---|---|
| Full Name | Tubulin Folding Cofactor B |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.12 |
| NCBI Gene ID | 1155 ncbi.nlm.nih.gov/gene/1155 |
| Ensembl ID | ENSG00000105254 |
| UniProt ID | Q99426 |
| OMIM ID | 601303 |
| HGNC ID | 11589 |
| Aliases | CGI-07, CKAP1, TBCB |
Description
The TBCB gene encodes tubulin folding cofactor B, a protein involved in the post-chaperonin folding pathway of alpha- and beta-tubulin. It plays a critical role in microtubule dynamics by regulating tubulin heterodimer formation and stability. TBCB interacts with other cofactors to facilitate proper tubulin assembly and is implicated in cytoskeletal organization and cell division.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Disruption of microtubule dynamics due to TBCB mutations | ClinVar, OMIM |
| Microcephaly | Impaired tubulin folding leading to reduced neuronal proliferation | ClinVar, OMIM |
| Autism spectrum disorder | Altered cytoskeletal organization affecting synaptic function | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 25.3 | Medium |
| Testis | 18.7 | Medium |
| Lung | 12.1 | Low |
| Liver | 8.5 | Low |
| Heart | 7.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 32.4 | High expression |
| HeLa | 28.1 | High expression |
| K562 | 15.6 | Medium expression |
| A549 | 12.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.208G>A (p.Glu70Lys) | Missense | Rare | Altered protein stability |
| c.455C>T (p.Pro152Leu) | Missense | Rare | Impaired tubulin binding |
Mutation functional classification
Loss of Function (LOF)
Missense mutations such as p.Met1? and p.Glu70Lys reduce TBCB activity, impairing tubulin folding.
Gain of Function (GOF)
No evidence of gain-of-function mutations in TBCB.
Dominant Negative (DN)
No dominant-negative mutations reported for TBCB.
View complete mutation data：
Gene Ontology (GO)
| • tubulin folding (GO:0007021) | • post-chaperonin tubulin folding pathway (GO:0007023) |
| • microtubule (GO:0005874) | • protein polymerization (GO:0051258) |
| • protein binding (GO:0005515) |
Pathways
• Tubulin folding pathway (Reactome: R-HSA-389977)
• Microtubule dynamics (Reactome: R-HSA-190840)
Protein Summary
Tubulin folding cofactor B (TBCB) is a 244-amino acid protein that functions as part of the tubulin folding complex. It binds to beta-tubulin and facilitates its release from the chaperonin CCT, enabling heterodimer formation with alpha-tubulin. TBCB is essential for microtubule assembly and stability, and its dysfunction is linked to neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBCB Knockout HEK293 Cell Line | EDJ-KQ50192 | Human | 1155 | Details Get a Quote |
| TBCB Knockout HeLa Cell Line | EDJ-KQ52913 | Human | 1155 | Details Get a Quote |
| TBCB Knockout A-549 Cell Line | EDJ-KQ61380 | Human | 1155 | Details Get a Quote |
| TBCB Knockout HCT 116 Cell Line | EDJ-KQ69875 | Human | 1155 | Details Get a Quote |
