TUBB1

This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y. [provided by RefSeq, Jul 2010]

Description

Tubulin beta 1 class VI

Tissue specificity

Tissue enhanced (bone marrow, lymphoid tissue)

Subcell location

Microtubules, Cytokinetic bridge, Mitotic spindle

Predicted location

Intracellular

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

20 (59019429 - 59026654)

Ensembl ID

ENSG00000101162  (ver. 103.38)

Orthologs

Mouse Tubb1: ENSMUSG00000016255

UniProt

Q9H4B7

neXtProt

NX_Q9H4B7

Human splice variants
Mouse splice variants

Protein structure