TUBB1
Tubulin Beta 1 Class VI
Gene Information Card
| Symbol | TUBB1 |
|---|---|
| Full Name | Tubulin Beta 1 Class VI |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.32 |
| NCBI Gene ID | 81027 ncbi.nlm.nih.gov/gene/81027 |
| Ensembl ID | ENSG00000101162 |
| UniProt ID | Q9H4B7 |
| OMIM ID | 612901 |
| HGNC ID | 20772 |
| Aliases | TUBB5, beta-tubulin 1, class VI |
Description
TUBB1 encodes beta-tubulin 1, a member of the tubulin family that forms microtubules, essential for cytoskeletal structure, cell division, and platelet formation. Mutations in TUBB1 are associated with autosomal dominant macrothrombocytopenia and other platelet disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Macrothrombocytopenia, autosomal dominant, TUBB1-related | Missense mutations disrupt microtubule polymerization, impairing proplatelet formation and leading to enlarged platelets and thrombocytopenia. | ClinVar, OMIM |
| Congenital amegakaryocytic thrombocytopenia (CAMT) | Rare TUBB1 variants may contribute to megakaryocyte maturation defects, though CAMT is primarily linked to MPL mutations. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Lung | 6.1 | Low |
| Testis | 5.4 | Low |
| Blood | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.2 | High expression |
| HEL (erythroleukemia) | 12.8 | High expression |
| MEG-01 (megakaryoblastic) | 11.5 | High expression |
| HL-60 (promyeloblast) | 9.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg318Trp | Missense | Rare | Disrupts microtubule stability, associated with macrothrombocytopenia |
| p.Arg307His | Missense | Rare | Impairs proplatelet formation, linked to thrombocytopenia |
| p.Gly146Arg | Missense | Rare | Alters GTP binding, reduces microtubule polymerization |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg318Trp) reduce microtubule polymerization and stability, leading to defective platelet production.
Gain of Function (GOF)
No evidence of gain-of-function mutations in TUBB1.
Dominant Negative (DN)
Heterozygous missense mutations exert dominant-negative effects by incorporating mutant tubulin into microtubules, disrupting normal polymerization.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • microtubule cytoskeleton organization |
| • microtubule polymerization | • structural constituent of cytoskeleton |
| • cell division | • platelet formation |
Pathways
• Microtubule cytoskeleton regulation
• Platelet activation and aggregation
Protein Summary
TUBB1 encodes beta-tubulin 1 class VI, a 446-amino acid protein that polymerizes with alpha-tubulin to form microtubules. It is highly expressed in megakaryocytes and platelets, playing a critical role in proplatelet formation and platelet release. Mutations cause autosomal dominant macrothrombocytopenia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TUBB1 Knockout HEK293 Cell Line | EDJ-KQ9601 | Human | 81027 | Details Get a Quote |
| TUBB1 Knockout HeLa Cell Line | EDJ-KQ57361 | Human | 81027 | Details Get a Quote |
| TUBB1 Knockout A-549 Cell Line | EDJ-KQ65867 | Human | 81027 | Details Get a Quote |
| TUBB1 Knockout HCT 116 Cell Line | EDJ-KQ74293 | Human | 81027 | Details Get a Quote |
| TUBB1 Knockout HAP1 Cell Line | EDC08022 | Human | 81027 | Details Get a Quote |
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