TUBA1C
Tubulin Alpha 1c: A Core Microtubule Component in Cell Division and Structure
Gene Information Card
| Symbol | TUBA1C |
|---|---|
| Full Name | Tubulin Alpha 1c |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 84790 ncbi.nlm.nih.gov/gene/84790 |
| Ensembl ID | ENSG00000167553 |
| UniProt ID | Q9BQE3 |
| OMIM ID | 602529 |
| HGNC ID | 20768 |
| Aliases | TUBA6, MGC8688, bA408O5.1 |
Description
TUBA1C encodes a member of the alpha tubulin family, which heterodimerizes with beta tubulin to form microtubules. Microtubules are essential for cell shape, intracellular transport, mitosis, and ciliary/flagellar motility. TUBA1C is widely expressed and its dysregulation is implicated in various cancers and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Altered TUBA1C expression affects microtubule dynamics, promoting proliferation and metastasis | COSMIC; literature |
| Neurodevelopmental disorders | Mutations in TUBA1C may disrupt neuronal migration and axon guidance | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Testis | 22.3 | High |
| Lung | 15.1 | Medium |
| Liver | 10.2 | Medium |
| Heart | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 35.2 | Cervical cancer cell line |
| A549 | 28.1 | Lung cancer cell line |
| HEK293 | 20.4 | Embryonic kidney cell line |
| MCF7 | 18.9 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.215A>G (p.Asn72Ser) | Missense | <0.1% | Unknown functional impact |
| c.790G>A (p.Val264Met) | Missense | <0.1% | Potential structural alteration |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; likely rare loss-of-function variants may impair microtubule assembly.
Gain of Function (GOF)
Overexpression in tumors suggests potential gain-of-function in proliferation.
Dominant Negative (DN)
No dominant-negative mutations reported for TUBA1C.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • structural constituent of cytoskeleton |
| • microtubule cytoskeleton organization | • mitotic cell cycle |
| • cilium assembly |
Pathways
• Microtubule-dependent transport
• Cell cycle (mitotic)
• Kinesin-mediated transport
Protein Summary
TUBA1C is a 451-amino acid alpha tubulin protein that forms heterodimers with beta tubulin. It polymerizes into microtubules, providing structural support and tracks for intracellular transport. Post-translational modifications (e.g., acetylation, detyrosination) regulate its stability and function. TUBA1C is highly conserved and essential for cell division and ciliogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TUBA1C Knockout HEK293 Cell Line | EDJ-KQ10198 | Human | 84790 | Details Get a Quote |
| TUBA1C Knockout HCT 116 Cell Line | EDJ-KQ36099 | Human | 84790 | Details Get a Quote |
| TUBA1C Knockout A-549 Cell Line | EDJ-KQ37339 | Human | 84790 | Details Get a Quote |
| TUBA1C Knockout HeLa Cell Line | EDJ-KQ37340 | Human | 84790 | Details Get a Quote |
