TUBA1A

Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to the mouse and rat Tuba1 genes. Northern blot studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. Mutations in this gene cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly, intellectual disability, and early-onset epilepsy caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]

Description

Tubulin alpha 1a

Tissue specificity

Tissue enhanced (brain)

Subcell location

Microtubules

Predicted location

Intracellular

Protein family

Cancer-related genes
Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins

Chromosome

12 (49184686 - 49189080)

Ensembl ID

ENSG00000167552  (ver. 103.38)

Orthologs

Mouse Tuba1a: ENSMUSG00000072235

UniProt

Q71U36

neXtProt

NX_Q71U36

Human splice variants
Mouse splice variants

Protein structure