TUBB: Tubulin Beta Class I – A Core Cytoskeletal Protein
Essential component of microtubules; implicated in cancer, neurodevelopmental disorders, and ciliopathies
Gene Information Card
| Symbol | TUBB |
|---|---|
| Full Name | Tubulin Beta Class I |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.33 |
| NCBI Gene ID | 203068 ncbi.nlm.nih.gov/gene/203068 |
| Ensembl ID | ENSG00000196230 |
| UniProt ID | P07437 |
| OMIM ID | 191130 |
| HGNC ID | 12414 |
| Aliases | TUBB1, TUBB2, TUBB5, M40, OK/SW-cl.56 |
Description
TUBB encodes beta-tubulin, a globular protein that heterodimerizes with alpha-tubulin to form microtubules. Microtubules are key components of the cytoskeleton, involved in cell shape, division, intracellular transport, and ciliary/flagellar motility. TUBB is constitutively expressed and is a target of chemotherapeutic agents such as taxanes and vinca alkaloids.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered microtubule dynamics; TUBB mutations or overexpression can confer resistance to microtubule-targeting drugs | ClinVar, COSMIC |
| Cortical dysplasia, complex, with other brain malformations 6 | Missense mutations impair microtubule polymerization and neuronal migration | OMIM #615771 |
| Nonsyndromic male infertility (sperm motility defects) | Mutations in TUBB8 (a related beta-tubulin) cause oocyte maturation arrest; TUBB variants may affect flagellar microtubules | OMIM #617235 |
| Ciliopathy (e.g., Bardet-Biedl syndrome) | Defects in microtubule-based cilia structure/function | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 48.2 | High |
| Testis | 35.1 | High |
| Lung | 22.8 | Medium |
| Liver | 18.5 | Medium |
| Heart | 15.3 | Medium |
| Kidney | 14.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 62.5 | Cervical cancer cell line |
| A549 | 55.3 | Lung cancer cell line |
| K562 | 48.9 | Leukemia cell line |
| MCF7 | 45.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.920G>A (p.Arg307His) | Missense | Rare | Impaired microtubule polymerization; associated with cortical dysplasia |
| c.5C>T (p.Ala2Val) | Missense | Rare | Reduced protein stability; linked to male infertility |
| c.124A>G (p.Asn42Asp) | Missense | Rare | Altered GTP binding; found in cancer samples (COSMIC) |
| c.1081G>A (p.Glu361Lys) | Missense | Rare | Resistance to taxane chemotherapy in breast cancer |
Mutation functional classification
Loss of Function (LOF)
Missense mutations that destabilize the protein or impair dimerization reduce microtubule formation, leading to cell division defects and neuronal migration abnormalities.
Gain of Function (GOF)
Not well documented; some mutations may alter microtubule dynamics without complete loss.
Dominant Negative (DN)
Mutations such as p.Arg307His act in a dominant-negative manner by incorporating into microtubules and disrupting polymerization.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • structural constituent of cytoskeleton | • microtubule polymerization |
| • mitotic cell cycle | • cilium assembly |
| • intracellular transport |
Pathways
• Microtubule polymerization (Reactome: R-HSA-190236)
• Mitotic prometaphase (Reactome: R-HSA-68877)
• Cilium assembly (Reactome: R-HSA-5620920)
• Kinesin-mediated transport (Reactome: R-HSA-983189)
Protein Summary
Beta-tubulin (TUBB) is a 444-amino-acid protein that forms heterodimers with alpha-tubulin. It contains a GTP-binding domain essential for polymerization. Post-translational modifications (e.g., acetylation, detyrosination) regulate microtubule stability and function. TUBB is highly conserved across eukaryotes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TUBB4B Knockout HEK293 Cell Line | EDJ-KQ2751 | Human | 10383 | Details Get a Quote |
| TUBB2A Knockout HEK293 Cell Line | EDJ-KQ3064 | Human | 7280 | Details Get a Quote |
| TUBB4A Knockout HEK293 Cell Line | EDJ-KQ7027 | Human | 10382 | Details Get a Quote |
| TUBB1 Knockout HEK293 Cell Line | EDJ-KQ9601 | Human | 81027 | Details Get a Quote |
| TUBB6 Knockout HEK293 Cell Line | EDJ-KQ10131 | Human | 84617 | Details Get a Quote |
| TUBB2B Knockout HEK293 Cell Line | EDJ-KQ15985 | Human | 347733 | Details Get a Quote |
| TUBB8 Knockout HEK293 Cell Line | EDJ-KQ15986 | Human | 347688 | Details Get a Quote |
| TUBB8B Knockout HEK293 Cell Line | EDJ-KQ15987 | Human | 260334 | Details Get a Quote |
| TUBB2A Knockout A-549 Cell Line | EDJ-KQ22952 | Human | 7280 | Details Get a Quote |
| TUBB2B Knockout A-549 Cell Line | EDJ-KQ47032 | Human | 347733 | Details Get a Quote |
| TUBB2B Knockout HCT 116 Cell Line | EDJ-KQ47033 | Human | 347733 | Details Get a Quote |
| TUBB8B Knockout HCT 116 Cell Line | EDJ-KQ47034 | Human | 260334 | Details Get a Quote |
| TUBB4B Knockout A-549 Cell Line | EDJ-KQ23641 | Human | 10383 | Details Get a Quote |
| TUBB4B Knockout HCT 116 Cell Line | EDJ-KQ23642 | Human | 10383 | Details Get a Quote |
| TUBB4B Knockout HeLa Cell Line | EDJ-KQ23643 | Human | 10383 | Details Get a Quote |
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