Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

TUBA1A

contributors: mct/npt - updated : 25-09-2019

HGNC name	tubulin, alpha 1a
HGNC id	20766

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LIS3 lissencephaly 3
Location	12q13.12      Physical location : 49.578.584 - 49.582.861
Synonym name	tubulin, alpha 3
	tubulin alpha, brain specific
Synonym symbol(s)	FLJ25113, TUBA3, B-ALPHA-1, hum-a-tub1, hum-a-tub2, LIS3

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	one of three alpha-tubulin genes in a cluster on chromosome 12q
STRUCTURE	4.53 kb     4 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006009 4 - 1677 NP_006000 - 451 - 2017 28687665 NM_001270400 4 - 2018 NP_001257329 - 416 - 2017 28687665 NP_001257329 4 - 2490 NP_001257328 - 451 - 2017 28687665

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain       specific Reproductive female system uterus cervix   highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	transiently expressed during neuronal development

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

heteromer , dimer

HOMOLOGY

interspecies	homolog to C.elegans tba-2
	homolog to rattus tuba1
	homolog to murine Tuba1

intraspecies

Homologene

FAMILY	tubulin superfamily
	alpha tubulin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule
	intracellular,nucleus
text	polymerizes to form microtubules

basic FUNCTION	critical structural subunit of microtubules
	plays an essential, noncompensated role in neuronal saltatory migration

CELLULAR PROCESS	cell life, differentiation
	cell life, proliferation/growth
	cell organization/biogenesis

PHYSIOLOGICAL PROCESS

development

text	glia cell differentiation
	cell shape and cell size control
	neurogenesis

PATHWAY

metabolism

signaling

a component

heterodimer of alpha and beta tubulins

INTERACTION

DNA

RNA

small molecule	nucleotide,
	GTP

protein	interacting with MYC (N-terminal domain of MYC associates with alpha-tubulin)(Alexandrova 1995)
	SELENOP interacts with the C-terminus of TUBA1A by its His-rich domain

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

LIS3

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	in mice carrying a Tuba1a missense mutation (S140G), neurons accumulate, and glial cells are dispersed along the rostral migratory stream in postnatal and adult brains
	homozygous Tuba1a mutant mice exhibit cortical dysgenesis reminiscent of human tubulinopathies