AlphaFold predicted structure
TUBB1 · Q9H4B7
Mean pLDDT
90.9/ 100
Very high
451 residues
Confidence breakdown
- Very high(≥ 90)80%
- Confident(70–90)14%
- Low(50–70)2%
- Very low(< 50)4%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
TUBB1
Chr 20q13.32tubulin beta 1 class VI
- Aliases:
- dJ543J19.4
- MANE:
- ENST00000217133.2
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Bleeding and platelet disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownInherited bleeding disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownCongenital hypothyroidism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalCytopenia - NOT Fanconi anaemia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCytopenias and congenital anaemias
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
autosomal dominant macrothrombocytopenia
0.72breast cancer
0.61non-small cell lung carcinoma
0.61hemorrhagic disease
0.61breast carcinoma
0.60prostate cancer
0.59neoplasm
0.59breast neoplasm
0.59Hodgkins lymphoma
0.59gout
0.59
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Tubulin beta-1 chain
Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin
Diseases associated with TUBB1
Curated MONDO disease pages that list TUBB1 among their top associated genes.