TUBA1A

GENE INFORMATION

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Gene name

TUBA1A (HGNC Symbol)

Synonyms

B-ALPHA-1, FLJ25113, TUBA3

Description

Tubulin, alpha 1a (HGNC Symbol)

Entrez gene summary

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 blotting 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, mental retardation, and early-onset epilepsy and caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]

Chromosome

12

Cytoband

q13.12

Chromosome location (bp)

49184796 - 49189324

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000167552 (version 78.38)

Entrez gene

7846

UniProt

Q71U36 (UniProt - Evidence at protein level)

neXtProt

NX_Q71U36

Antibodypedia

TUBA1A antibodies
 

PROTEIN VIEW

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TUBA1A-001
 
TUBA1A-002
 
TUBA1A-006
 
TUBA1A-008
 
TUBA1A-009
 
TUBA1A-010
 
TUBA1A-011
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

TUBA1A-001 ENSP00000301071
ENST00000301071
Q71U36
Show all »
Show » Show » 451 50.1 No 0
TUBA1A-002 ENSP00000439020
ENST00000295766
Q71U36
Show all »
Show » Show » 451 50.1 No 0
TUBA1A-006 ENSP00000446637
ENST00000550767
Q71U36
Show all »
Show » Show » 416 46.3 No 0
TUBA1A-008 ENSP00000448725
ENST00000552924
F8VRZ4
Show all »
Show » Show » 112 12.2 No 0
TUBA1A-009 ENSP00000450268
ENST00000547939
F8VQQ4
Show all »
Show » Show » 219 24.2 No 0
TUBA1A-010 ENSP00000449016
ENST00000550811
F8VXZ7
Show all »
Show » 26 2.7 No 0
TUBA1A-011 ENSP00000446613
ENST00000546918
F8W0F6
Show all »
Show » Show » 231 24.8 No 0