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tubulin alpha 1a

Summary

Gene Symbol

TUBA1A

Aliases

B-ALPHA-1
FLJ25113
TUBA3
tubulin, alpha, brain-specific

Organism

Homo sapiens (human)

External Links

NCBI Gene

7846

HGNC

20766

PubChem

7846

Alliance of Genome Resources

HGNC:20766

Annotation

Keyword

3D-structure
Acetylation
Alternative splicing
Cytoskeleton
Direct protein sequencing
Disease variant
GTP-binding
Hydrolase
Isopeptide bond
Lissencephaly
Magnesium
Metal-binding
Methylation
Microtubule
Nitration
Phosphoprotein
Reference proteome

Proteins

Displaying 1 entry
UniProt	Protein Name
Q71U36	Alpha-tubulin 3 Tubulin B-alpha-1 Tubulin alpha-3 chain

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **16 - 20** of 34 in total

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GO Term	Evidence Code	PMID
cerebellar cortex morphogenesis	IEA
pyramidal neuron differentiation	IEA
cerebral cortex development	IEA
flagellated sperm motility	IEA
cytoskeleton-dependent intracellular transport	TAS	12090300

GO Hierarchy

biological process

metabolic process [inference]

biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

cellular metabolic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

macromolecule biosynthetic process [inference]

gene expression

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

cellular process [inference]

microtubule-based process

microtubule cytoskeleton organization

microtubule polymerization or depolymerization [inference]

microtubule polymerization

microtubule-based movement [inference]

cilium movement [inference]

cilium movement involved in cell motility [inference]

flagellated sperm motility

transport along microtubule [inference]

organelle transport along microtubule

microtubule organizing center organization [inference]

centrosome cycle

cell cycle [inference]

mitotic cell cycle

signal transduction [inference]

cell surface receptor signaling pathway [inference]

smoothened signaling pathway

cell death [inference]

programmed cell death [inference]

apoptotic process [inference]

neuron apoptotic process

cell cycle process [inference]

centrosome cycle

cellular metabolic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

cellular developmental process [inference]

cell differentiation [inference]

glial cell differentiation

neuron differentiation [inference]

pyramidal neuron differentiation

cell motility [inference]

cilium or flagellum-dependent cell motility [inference]

cilium-dependent cell motility [inference]

flagellated sperm motility

cell migration [inference]

neuron migration

sperm motility [inference]

flagellated sperm motility

cell division

cellular localization [inference]

intracellular transport [inference]

intracellular protein transport

cytoskeleton-dependent intracellular transport

transport along microtubule [inference]

organelle transport along microtubule

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

protein transport [inference]

intracellular protein transport

cellular response to stimulus [inference]

cellular response to chemical stimulus [inference]

cellular response to inorganic substance [inference]

cellular response to metal ion [inference]

cellular response to calcium ion

cellular response to oxygen-containing compound [inference]

cellular response to calcium ion

cellular response to salt [inference]

cellular response to calcium ion

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cytoskeleton organization [inference]

microtubule cytoskeleton organization

microtubule polymerization or depolymerization [inference]

microtubule polymerization

cellular component assembly [inference]

protein-containing complex assembly [inference]

protein polymerization [inference]

microtubule polymerization

cell projection organization [inference]

cell projection morphogenesis [inference]

plasma membrane bounded cell projection morphogenesis [inference]

neuron projection morphogenesis [inference]

neuron projection arborization

microtubule organizing center organization [inference]

centrosome cycle

cell junction organization [inference]

synapse organization

protein-containing complex organization [inference]

protein-containing complex assembly [inference]

protein polymerization [inference]

microtubule polymerization

supramolecular fiber organization [inference]

microtubule polymerization

reproductive process [inference]

sperm motility [inference]

flagellated sperm motility

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

cognition [inference]

learning or memory [inference]

learning [inference]

associative learning [inference]

visual learning

memory

neuromuscular process [inference]

startle response

behavior [inference]

learning or memory [inference]

learning [inference]

associative learning [inference]

visual learning

memory

locomotory behavior [inference]

visual behavior [inference]

visual learning

adult behavior [inference]

adult locomotory behavior

exploration behavior [inference]

locomotory exploration behavior

motor behavior

multicellular organismal-level homeostasis [inference]

homeostasis of number of cells [inference]

homeostasis of number of cells within a tissue

anatomical structure homeostasis [inference]

tissue homeostasis [inference]

homeostasis of number of cells within a tissue

developmental process [inference]

anatomical structure morphogenesis [inference]

cerebellar cortex morphogenesis

cellular anatomical entity morphogenesis [inference]

cell projection morphogenesis [inference]

plasma membrane bounded cell projection morphogenesis [inference]

neuron projection morphogenesis [inference]

neuron projection arborization

forebrain morphogenesis

anatomical structure development [inference]

cellular developmental process [inference]

cell differentiation [inference]

glial cell differentiation

neuron differentiation [inference]

pyramidal neuron differentiation

homeostatic process [inference]

multicellular organismal-level homeostasis [inference]

homeostasis of number of cells [inference]

homeostasis of number of cells within a tissue

anatomical structure homeostasis [inference]

tissue homeostasis [inference]

homeostasis of number of cells within a tissue

response to stimulus [inference]

response to external stimulus [inference]

response to abiotic stimulus [inference]

response to radiation [inference]

response to light stimulus [inference]

visual behavior [inference]

visual learning

response to mechanical stimulus

response to chemical [inference]

response to acid chemical [inference]

response to amino acid [inference]

response to L-glutamate

response to organic substance [inference]

response to organonitrogen compound [inference]

response to amino acid [inference]

response to L-glutamate

response to cytokine [inference]

response to tumor necrosis factor

response to calcium ion [inference]

cellular response to calcium ion

response to inorganic substance [inference]

response to metal ion [inference]

response to calcium ion [inference]

cellular response to calcium ion

cellular response to metal ion [inference]

cellular response to calcium ion

cellular response to inorganic substance [inference]

cellular response to metal ion [inference]

cellular response to calcium ion

cellular response to chemical stimulus [inference]

cellular response to inorganic substance [inference]

cellular response to metal ion [inference]

cellular response to calcium ion

cellular response to oxygen-containing compound [inference]

cellular response to calcium ion

cellular response to salt [inference]

cellular response to calcium ion

response to nitrogen compound [inference]

response to organonitrogen compound [inference]

response to amino acid [inference]

response to L-glutamate

response to oxygen-containing compound [inference]

response to amino acid [inference]

response to L-glutamate

response to calcium ion [inference]

cellular response to calcium ion

cellular response to oxygen-containing compound [inference]

cellular response to calcium ion

response to salt [inference]

response to calcium ion [inference]

cellular response to calcium ion

response to L-glutamate

cellular response to salt [inference]

cellular response to calcium ion

cellular response to stimulus [inference]

cellular response to chemical stimulus [inference]

cellular response to inorganic substance [inference]

cellular response to metal ion [inference]

cellular response to calcium ion

cellular response to oxygen-containing compound [inference]

cellular response to calcium ion

cellular response to salt [inference]

cellular response to calcium ion

localization [inference]

macromolecule localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

protein transport [inference]

intracellular protein transport

establishment of localization [inference]

transport [inference]

intracellular transport [inference]

intracellular protein transport

cytoskeleton-dependent intracellular transport

transport along microtubule [inference]

organelle transport along microtubule

organic substance transport [inference]

protein transport [inference]

intracellular protein transport

nitrogen compound transport [inference]

protein transport [inference]

intracellular protein transport

microtubule-based transport [inference]

transport along microtubule [inference]

organelle transport along microtubule

establishment of protein localization [inference]

protein transport [inference]

intracellular protein transport

establishment of localization in cell [inference]

intracellular transport [inference]

intracellular protein transport

cytoskeleton-dependent intracellular transport

transport along microtubule [inference]

organelle transport along microtubule

establishment of organelle localization [inference]

organelle transport along microtubule

organelle localization [inference]

establishment of organelle localization [inference]

organelle transport along microtubule

cellular localization [inference]

intracellular transport [inference]

intracellular protein transport

cytoskeleton-dependent intracellular transport

transport along microtubule [inference]

organelle transport along microtubule

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

protein transport [inference]

intracellular protein transport

biological regulation [inference]

regulation of biological process [inference]

regulation of cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

smoothened signaling pathway

regulation of cellular component organization [inference]

regulation of synapse organization

Displaying entries **11 - 15** of 16 in total

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GO Term	Evidence Code	PMID
microtubule cytoskeleton	IDA
neuromuscular junction	IEA
sperm flagellum	IEA
cytoplasmic ribonucleoprotein granule	IDA	15121898
recycling endosome	IDA	24561039

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

plasma membrane

cell junction [inference]

synapse [inference]

neuromuscular junction

cell projection [inference]

plasma membrane bounded cell projection [inference]

cilium

motile cilium [inference]

9+2 motile cilium [inference]

sperm flagellum

organelle [inference]

membrane-bounded organelle [inference]

cilium

motile cilium [inference]

9+2 motile cilium [inference]

sperm flagellum

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome [inference]

recycling endosome

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

nucleus

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome [inference]

recycling endosome

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

chromosome [inference]

condensed chromosome

cytoskeleton [inference]

microtubule cytoskeleton

ribonucleoprotein granule [inference]

cytoplasmic ribonucleoprotein granule

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome [inference]

recycling endosome

intracellular non-membrane-bounded organelle [inference]

chromosome [inference]

condensed chromosome

cytoskeleton [inference]

microtubule cytoskeleton

ribonucleoprotein granule [inference]

cytoplasmic ribonucleoprotein granule

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

supramolecular complex [inference]

ribonucleoprotein granule [inference]

cytoplasmic ribonucleoprotein granule

supramolecular polymer [inference]

supramolecular fiber [inference]

polymeric cytoskeletal fiber [inference]

microtubule

cytoplasmic microtubule [inference]

axonemal microtubule

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GO Term	Evidence Code	PMID
structural molecule activity	TAS	12090300
structural constituent of cytoskeleton	IBA
protein binding	IPI	15657067 17563362 19893491 20195357 21339331 24189400 24658140 25609649 30274285 31980649 32814053 33961781 35063084
GTP binding	IBA
hydrolase activity	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity

structural molecule activity

structural constituent of cytoskeleton

binding [inference]

protein binding

identical protein binding

protein dimerization activity [inference]

protein heterodimerization activity

small molecule binding [inference]

heterocyclic compound binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

guanyl nucleotide binding [inference]

guanyl ribonucleotide binding [inference]

GTP binding

purine ribonucleotide binding [inference]

guanyl ribonucleotide binding [inference]

GTP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

guanyl ribonucleotide binding [inference]

GTP binding

ion binding [inference]

anion binding [inference]

purine ribonucleoside triphosphate binding [inference]

GTP binding

cation binding [inference]

metal ion binding

protein-containing complex binding

organic cyclic compound binding [inference]

nucleoside phosphate binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

guanyl nucleotide binding [inference]

guanyl ribonucleotide binding [inference]

GTP binding

purine ribonucleotide binding [inference]

guanyl ribonucleotide binding [inference]

GTP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

guanyl ribonucleotide binding [inference]

GTP binding

purine ribonucleoside triphosphate binding [inference]

GTP binding

carbohydrate derivative binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

guanyl ribonucleotide binding [inference]

GTP binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Tubulin

Functional Category

D: Cell cycle control, cell division, chromosome partitioning
M: Cell wall/membrane/envelope biogenesis
N: Cell motility
W: Extracellular structures

Displaying **all 10** entries
Gene Ontology
GTP binding
cell division
cytoskeleton organization
cytoskeleton-dependent intracellular transport
hydrolase activity
microtubule cytoskeleton organization
microtubule-based process
nucleotide binding
structural constituent of cytoskeleton
structural molecule activity

Displaying **all 9** entries
InterPro
Alpha tubulin
Tubulin, C-terminal
Tubulin, conserved site
Tubulin/FtsZ, 2-layer sandwich domain
Tubulin/FtsZ, C-terminal
Tubulin/FtsZ, GTPase domain superfamily
Tubulin/FtsZ, GTPase domain
Tubulin/FtsZ-like, C-terminal domain
Tubulin

Human Protein Atlas

ENSG00000167552

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

Disease

Disease Ontology

Displaying **all 4** entries
DO ID	Disease Name	Source
DOID:0050453	lissencephaly	Alliance of Genome Resources
DOID:0112232	lissencephaly 3	Alliance of Genome Resources
DOID:10907	microcephaly	Alliance of Genome Resources
DOID:11832	visual epilepsy	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **31 - 40** of 93 in total

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HPO ID	HPO Term
HP:0001257	Spasticity
HP:0001262	Excessive daytime somnolence
HP:0001263	Global developmental delay
HP:0001270	Motor delay
HP:0001273	Abnormal corpus callosum morphology
HP:0001274	Agenesis of corpus callosum
HP:0001290	Generalized hypotonia
HP:0001302	Pachygyria
HP:0001305	Dandy-Walker malformation
HP:0001320	Cerebellar vermis hypoplasia

Displaying **all 5** entries
Disease ID	Disease Name
OMIM:611603	lissencephaly due to TUBA1A mutation
ORPHA:45358	congenital fibrosis of extraocular muscles
ORPHA:171680	lissencephaly due to TUBA1A mutation
ORPHA:994	fetal akinesia deformation sequence 1
ORPHA:467166	tubulinopathy-associated dysgyria

PubChem Disease

GHR Health Conditions

MedGen Diseases

Lissencephaly due to TUBA1A mutation

OMIM Phenotypes

LISSENCEPHALY 3; LIS3

KEGG Diseases

Lissencephaly

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Saccharomyces cerevisiae S288C	7277	SGD:S000004593
Xenopus tropicalis	7846	Xenbase:XB-GENE-492543
Xenopus tropicalis	10376	Xenbase:XB-GENE-22063827
Mus musculus	22142	Xenbase:XB-GENE-492543	MOUSE16314
Mus musculus	22143	Xenbase:XB-GENE-22063827	MOUSE16312
Saccharomyces cerevisiae S288C	22144	SGD:S000004593
Saccharomyces cerevisiae S288C	22145	SGD:S000004593
Mus musculus	22146	SGD:S000004593	MOUSE16315
Saccharomyces cerevisiae S288C	22147	SGD:S000004593
Saccharomyces cerevisiae S288C	53857	SGD:S000004593

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

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Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

PubChem Disease

International Collaboration

Acknowledgements