TUBA1A: Tubulin Alpha 1a
A critical component of microtubules, essential for neuronal migration and brain development.
Gene Information Card
| Symbol | TUBA1A |
|---|---|
| Full Name | Tubulin Alpha 1a |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 7846 ncbi.nlm.nih.gov/gene/7846 |
| Ensembl ID | ENSG00000167552 |
| UniProt ID | Q71U36 |
| OMIM ID | 602529 |
| HGNC ID | 12407 |
| Aliases | TUBA3, LIS3, B-ALPHA-1, CDC20B |
Description
The TUBA1A gene encodes alpha-tubulin, a core component of microtubules. Microtubules are cytoskeletal structures essential for cell division, intracellular transport, and neuronal migration. Mutations in TUBA1A are a major cause of lissencephaly and other brain malformations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lissencephaly 3 (LIS3) | Missense mutations disrupt microtubule polymerization and stability, impairing neuronal migration. | OMIM #611603 |
| Polymicrogyria | Altered microtubule dynamics lead to abnormal cortical development. | ClinVar, NCBI |
| Cortical dysplasia | Dominant-negative effects on microtubule assembly cause focal brain malformations. | NCBI, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 45.2 | High |
| Testis | 12.1 | Medium |
| Heart | 8.5 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 62.3 | High expression in neuronal lineage |
| HeLa (cervical carcinoma) | 28.7 | Moderate expression |
| HEK293 (embryonic kidney) | 15.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg402Cys | Missense | Rare | Dominant-negative; reduces microtubule stability |
| p.Ser140Gly | Missense | Rare | Loss of function; impairs tubulin heterodimer formation |
| p.Tyr272His | Missense | Rare | Gain of function; alters microtubule dynamics |
Mutation functional classification
Loss of Function (LOF)
Rare; some missense mutations impair tubulin folding or dimerization.
Gain of Function (GOF)
Rare; certain variants may alter microtubule dynamics abnormally.
Dominant Negative (DN)
Common; most pathogenic TUBA1A mutations act via dominant-negative effects on microtubule assembly.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • structural constituent of cytoskeleton |
| • microtubule polymerization | • microtubule-based movement |
| • cell division |
Pathways
• Microtubule cytoskeleton organization
• Cell cycle (mitotic)
• Neuronal migration
Protein Summary
Alpha-tubulin (TUBA1A) is a 451-amino-acid protein that forms heterodimers with beta-tubulin to build microtubules. It is highly expressed in the developing brain and is critical for mitotic spindle formation and axonal guidance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TUBA1A Knockout HEK293 Cell Line | EDJ-KQ6133 | Human | 7846 | Details Get a Quote |
| TUBA1A Knockout A-549 Cell Line | EDJ-KQ29912 | Human | 7846 | Details Get a Quote |
| TUBA1A Knockout HCT 116 Cell Line | EDJ-KQ29913 | Human | 7846 | Details Get a Quote |
| TUBA1A Knockout HeLa Cell Line | EDJ-KQ29914 | Human | 7846 | Details Get a Quote |
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