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Aliases for TUBA1A Gene

Aliases for TUBA1A Gene

  • Tubulin, Alpha 1a 2 3
  • TUBA3 3 4 6
  • Tubulin Alpha-3 Chain 3 4
  • Tubulin B-Alpha-1 3 4
  • LIS3 3 6
  • Tubulin, Alpha, Brain-Specific 3
  • Tubulin Alpha-1A Chain 3
  • Alpha-Tubulin 3 4
  • Brain-Specific 2
  • Hum-A-Tub1 3
  • Hum-A-Tub2 3
  • B-ALPHA-1 3
  • Tubulin 2
  • Alpha 2

External Ids for TUBA1A Gene

Summaries for TUBA1A Gene

Entrez Gene Summary for TUBA1A Gene

  • 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]

GeneCards Summary for TUBA1A Gene

TUBA1A (Tubulin, Alpha 1a) is a Protein Coding gene. Diseases associated with TUBA1A include lissencephaly 3 and lissencephaly due to tuba1a mutation. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include GTP binding and structural molecule activity. An important paralog of this gene is TUBA3C.

UniProtKB/Swiss-Prot for TUBA1A Gene

  • Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain

Tocris Summary for TUBA1A Gene

  • Microtubules are cylindrical tubes of 20-25 nm in diameter. They are composed of protofilaments which are in turn composed of alpha- and beta-tubulin polymers. Each microtubule is polarized, at one end alpha-subunits are exposed (-) and at the other beta-subunits are exposed (+). Microtubules act as a scaffold to determine cell shape, and provide a backbone for cell organelles and vesicles to move on, a process that requires motor proteins. The major microtubule motor proteins are kinesin, which generally moves towards the (+) end of the microtubule, and dynein, which generally moves towards the (-) end. Microtubules also form the spindle fibers for separating chromosomes during mitosis.

Gene Wiki entry for TUBA1A Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUBA1A Gene

Genomics for TUBA1A Gene

Genomic Location for TUBA1A Gene

Start:
49,184,795 bp from pter
End:
49,189,324 bp from pter
Size:
4,530 bases
Orientation:
Minus strand

Genomic View for TUBA1A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TUBA1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUBA1A Gene

Regulatory Elements for TUBA1A Gene

Proteins for TUBA1A Gene

  • Protein details for TUBA1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q71U36-TBA1A_HUMAN
    Recommended name:
    Tubulin alpha-1A chain
    Protein Accession:
    Q71U36
    Secondary Accessions:
    • A8K0B8
    • G3V1U9
    • P04687
    • P05209

    Protein attributes for TUBA1A Gene

    Size:
    451 amino acids
    Molecular mass:
    50136 Da
    Quaternary structure:
    • Dimer of alpha and beta chains. A typical microtubule is a hollow water-filled tube with an outer diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head-to-tail to form protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different protofilament numbers can be found in some organisms and specialized cells

    Alternative splice isoforms for TUBA1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TUBA1A Gene

Proteomics data for TUBA1A Gene at MOPED

Post-translational modifications for TUBA1A Gene

  • Acetylation of alpha chains at Lys-40 stabilizes microtubules and affects affinity and processivity of microtubule motors. This modification has a role in multiple cellular functions, ranging from cell motility, cell cycle progression or cell differentiation to intracellular trafficking and signaling (By similarity).
  • Some glutamate residues at the C-terminus are polyglutamylated. This modification occurs exclusively on glutamate residues and results in polyglutamate chains on the gamma-carboxyl group. Also monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella) whereas glutamylation is prevalent in neuronal cells, centrioles, axonemes, and the mitotic spindle. Both modifications can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of such modifications is still unclear but they regulate the assembly and dynamics of axonemal microtubules (Probable).
  • Undergoes a tyrosination/detyrosination cycle, the cyclic removal and re-addition of a C-terminal tyrosine residue by the enzymes tubulin tyrosine carboxypeptidase (TTCP) and tubulin tyrosine ligase (TTL), respectively.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys60, Lys96, Lys112, Lys163, Lys280, Lys304, Lys311, Lys326, Lys336, Lys338, Lys352, Lys370, Lys394, and Lys401
  • Glycosylation at Asn380

Other Protein References for TUBA1A Gene

No data available for DME Specific Peptides for TUBA1A Gene

Domains for TUBA1A Gene

Gene Families for TUBA1A Gene

HGNC:
  • TUB :Tubulins

UniProtKB/Swiss-Prot:

TBA1A_HUMAN
Family:
  • Belongs to the tubulin family.:
    • Q71U36
genes like me logo Genes that share domains with TUBA1A: view

Function for TUBA1A Gene

Molecular function for TUBA1A Gene

UniProtKB/Swiss-Prot Function: Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain

Gene Ontology (GO) - Molecular Function for TUBA1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA --
GO:0005198 structural molecule activity TAS 12090300
GO:0005200 structural constituent of cytoskeleton IEA --
GO:0005515 protein binding IPI 15657067
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with TUBA1A: view
genes like me logo Genes that share phenotypes with TUBA1A: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for TUBA1A Gene

Localization for TUBA1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBA1A Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TUBA1A Gene COMPARTMENTS Subcellular localization image for TUBA1A gene
Compartment Confidence
cytoskeleton 5
cytosol 4
golgi apparatus 2
nucleus 2
plasma membrane 2
endoplasmic reticulum 1
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for TUBA1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005829 cytosol TAS --
GO:0005874 microtubule TAS 12090300
GO:0005881 cytoplasmic microtubule IEA --
GO:0036464 cytoplasmic ribonucleoprotein granule IDA 15121898
genes like me logo Genes that share ontologies with TUBA1A: view

Pathways for TUBA1A Gene

genes like me logo Genes that share pathways with TUBA1A: view

Gene Ontology (GO) - Biological Process for TUBA1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000278 mitotic cell cycle TAS --
GO:0006184 obsolete GTP catabolic process --
GO:0006457 protein folding TAS --
GO:0006996 organelle organization TAS --
genes like me logo Genes that share ontologies with TUBA1A: view

Compounds for TUBA1A Gene

(9) ApexBio Compounds for TUBA1A Gene

Compound Action Cas Number
7-xylosyltaxol taxol (Paclitaxel) derivative [90332-66-4]
Colchicine Colchicine, a tubulin Inhibitor [64-86-8]
D-64131 novel inhibitor of Tubulin polymerization [74588-78-6]
Docetaxel Trihydrate inhibitor of depolymerisation of microtubules [148408-66-6]
Mc-MMAD Potent tubulin inhibitor [1401963-15-2]
MMAD Potent tubulin inhibitor [203849-91-6]
Monomethyl auristatin E Antimitotic agent [474645-27-7]
Podophyllotoxin Actions Inhibits microtubule assembly [518-28-5]
Vc-MMAD antibody drug conjugate. [1401963-17-4]

(5) Tocris Compounds for TUBA1A Gene

Compound Action Cas Number
Colchicine Inhibitor of tubulin [64-86-8]
Docetaxel Microtubule stabilizer [114977-28-5]
Epothilone B Microtubule stabilization agent; promotes tubulin polymerization [152044-54-7]
Vinblastine sulfate Disrupts microtubules [143-67-9]
Vinorelbine ditartrate Selective mitotic microtubule antagonist [125317-39-7]

(1) HMDB Compounds for TUBA1A Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1

(6) Drugbank Compounds for TUBA1A Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
2-MERCAPTO-N-[1,2,3,10-TETRAMETHOXY-9-OXO-5,6,7,9-TETRAHYDRO-BENZO[A]HEPTALEN-7-YL]ACETAMIDE
target
Albendazole
54965-21-8 target inhibitor
Epothilone B
  • EPO 906
152044-54-7 target
Epothilone D
189453-10-9 target
Mebendazole
31431-39-7 target inhibitor
genes like me logo Genes that share compounds with TUBA1A: view

Transcripts for TUBA1A Gene

Unigene Clusters for TUBA1A Gene

Tubulin, alpha 1a:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TUBA1A Gene

No ASD Table

Relevant External Links for TUBA1A Gene

GeneLoc Exon Structure for
TUBA1A
ECgene alternative splicing isoforms for
TUBA1A

Expression for TUBA1A Gene

mRNA expression in normal human tissues for TUBA1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TUBA1A Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (6.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TUBA1A Gene

SOURCE GeneReport for Unigene cluster for TUBA1A Gene Hs.654422

mRNA Expression by UniProt/SwissProt for TUBA1A Gene

Q71U36-TBA1A_HUMAN
Tissue specificity: Expressed at a high level in fetal brain.
genes like me logo Genes that share expressions with TUBA1A: view

Orthologs for TUBA1A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUBA1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TUBA1A 36
  • 99.19 (n)
  • 100 (a)
TUBA1A 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TUBA1A 36
  • 95.71 (n)
  • 100 (a)
TUBA1A 37
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TUBA1A 36
  • 95.34 (n)
  • 100 (a)
TUBA1A 37
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tuba1a 36
  • 93.64 (n)
  • 100 (a)
Tuba1a 16
Tuba1a 37
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TUBA1A 37
  • 68 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tuba1a 36
  • 94.01 (n)
  • 100 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 57 (a)
OneToMany
TUBA3E 36
  • 80.66 (n)
  • 95.56 (a)
lizard
(Anolis carolinensis)
Reptilia TUBA1A 37
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tuba1b 36
  • 87.8 (n)
  • 100 (a)
zebrafish
(Danio rerio)
Actinopterygii tuba1a 37
  • 100 (a)
OneToMany
tuba1c 37
  • 100 (a)
OneToMany
tuba1l2 36
  • 85.66 (n)
  • 99.78 (a)
worm
(Caenorhabditis elegans)
Secernentea tba-5 36
  • 69.48 (n)
  • 84.74 (a)
Y19D2B.1 37
  • 82 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB3 39
barley
(Hordeum vulgare)
Liliopsida Hv.4030 36
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2516 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 49 (a)
ManyToMany
-- 37
  • 53 (a)
ManyToMany
Species with no ortholog for TUBA1A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TUBA1A Gene

ENSEMBL:
Gene Tree for TUBA1A (if available)
TreeFam:
Gene Tree for TUBA1A (if available)

Paralogs for TUBA1A Gene

Paralogs for TUBA1A Gene

genes like me logo Genes that share paralogs with TUBA1A: view

Variants for TUBA1A Gene

Sequence variations from dbSNP and Humsavar for TUBA1A Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs697624 Benign 49,185,913(-) ACCTC(C/G)CTGCT synonymous-codon, reference
rs1039225 -- 49,188,909(-) GGAAA(A/C)CCTTT utr-variant-5-prime, intron-variant
rs1055904 -- 49,186,672(-) AGTGA(A/G)ACGGG synonymous-codon, reference
rs1055956 -- 49,186,666(-) ACGGG(G/T)GCTGG reference, synonymous-codon
rs1056875 Benign 49,186,397(-) GGCAA(A/G)GAAGA reference, synonymous-codon

Relevant External Links for TUBA1A Gene

HapMap Linkage Disequilibrium report
TUBA1A
Human Gene Mutation Database (HGMD)
TUBA1A

No data available for Structural Variations from Database of Genomic Variants (DGV) for TUBA1A Gene

Disorders for TUBA1A Gene

(1) OMIM Diseases for TUBA1A Gene (602529)

UniProtKB/Swiss-Prot

TBA1A_HUMAN
  • Lissencephaly 3 (LIS3) [MIM:611603]: A classic type lissencephaly associated with psychomotor retardation and seizures. Features include agyria or pachygyria or laminar heterotopia, severe mental retardation, motor delay, variable presence of seizures, and abnormalities of corpus callosum, hippocampus, cerebellar vermis and brainstem. {ECO:0000269 PubMed:17584854}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for TUBA1A Gene

Relevant External Links for TUBA1A

Genetic Association Database (GAD)
TUBA1A
Human Genome Epidemiology (HuGE) Navigator
TUBA1A
genes like me logo Genes that share disorders with TUBA1A: view

Publications for TUBA1A Gene

  1. Structural features and restricted expression of a human alpha- tubulin gene. (PMID: 3839072) Hall J.L. … Cowan N.J. (Nucleic Acids Res. 1985) 2 3 4
  2. Tubulins in the primate retina: evidence that xanthophylls may be endogenous ligands for the paclitaxel-binding site. (PMID: 11504633) Crabtree D.V. … Adler A.J. (Bioorg. Med. Chem. 2001) 2 3 4
  3. Expression of human alpha-tubulin genes: interspecies conservation of 3' untranslated regions. (PMID: 6646120) Cowan N.J. … Cleveland D.W. (Mol. Cell. Biol. 1983) 3 4
  4. Association between genes of Disrupted in schizophrenia 1 (DISC1) interactors and schizophrenia supports the role of the DISC1 pathway in the etiology of major mental illnesses. (PMID: 19251251) Tomppo L. … Peltonen L. (Biol. Psychiatry 2009) 3 49
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for TUBA1A Gene

Sources for TUBA1A Gene

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