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Aliases for TUBA1A Gene

Aliases for TUBA1A Gene

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

External Ids for TUBA1A Gene

Previous GeneCards Identifiers for TUBA1A Gene

  • GC12M047865
  • GC12M049578
  • GC12M046609

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 due to tuba1a mutation and lissencephaly 3. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. 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 (+).

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

Regulatory Elements for TUBA1A Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TUBA1A Gene

Chromosome:
12
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

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
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TUBA1A Gene

Domains & Families for TUBA1A Gene

Gene Families for TUBA1A Gene

Suggested Antigen Peptide Sequences for TUBA1A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q71U36

UniProtKB/Swiss-Prot:

TBA1A_HUMAN :
  • Belongs to the tubulin family.
Family:
  • Belongs to the tubulin family.
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

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TUBA1A

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
endosome 5
extracellular 5
nucleus 5
cytosol 4
plasma membrane 2
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
vacuole 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 & Interactions for TUBA1A Gene

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

SIGNOR curated interactions for TUBA1A Gene

Is activated by:
Is inactivated by:

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:0006457 protein folding TAS --
GO:0006996 organelle organization TAS --
GO:0007017 microtubule-based process TAS 12090300
genes like me logo Genes that share ontologies with TUBA1A: view

Drugs & Compounds for TUBA1A Gene

(19) Drugs for TUBA1A Gene - From: DrugBank, ApexBio, Tocris, HMDB, and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mebendazole Approved Pharma binder, Target, inhibitor 21
Albendazole Approved Pharma Target, inhibitor 68
Vinblastine Approved Pharma Target, adduct 218
Cabazitaxel Approved Pharma 0
Colchicine Approved Pharma Antagonist Tubulin Inhibitor 103

(4) Additional Compounds for TUBA1A Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ABT 751
141430-65-1
combretastatin a4
117048-59-6
Noscapine hydrochloride
912-60-7
Vinblastine sulfate
143-67-9
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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TUBA1A

Flow Cytometry Products

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 differential expression in normal tissues according to GTEx for TUBA1A Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x6.0).

Protein differential expression in normal tissues from HIPED for TUBA1A Gene

This gene is overexpressed in Brain (14.9), Adipocyte (12.9), and Breast (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with TUBA1A: view

Protein tissue co-expression partners for TUBA1A Gene

- Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for TUBA1A Gene

Orthologs for TUBA1A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUBA1A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TUBA1A 35
  • 95.71 (n)
  • 100 (a)
TUBA1A 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TUBA1A 35
  • 95.34 (n)
  • 100 (a)
TUBA1A 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tuba1a 35
  • 93.64 (n)
  • 100 (a)
Tuba1a 16
Tuba1a 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TUBA1A 35
  • 99.19 (n)
  • 100 (a)
TUBA1A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tuba1a 35
  • 94.01 (n)
  • 100 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia TUBA1A 36
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves TUBA3E 35
  • 80.66 (n)
  • 95.56 (a)
-- 36
  • 57 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia TUBA1A 36
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tuba1b 35
  • 87.8 (n)
  • 100 (a)
zebrafish
(Danio rerio)
Actinopterygii tuba1l2 35
  • 85.66 (n)
  • 99.78 (a)
tuba1a 36
  • 100 (a)
OneToMany
tuba1c 36
  • 100 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tba-5 35
  • 69.48 (n)
  • 84.74 (a)
Y19D2B.1 36
  • 82 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB3 38
barley
(Hordeum vulgare)
Liliopsida Hv.4030 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2516 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 49 (a)
ManyToMany
-- 36
  • 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, Benign 49,185,913(-) ACCTC(A/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, Benign 49,186,397(-) GGCAA(A/G)GAAGA reference, synonymous-codon

Variation tolerance for TUBA1A Gene

Residual Variation Intolerance Score: 77.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TUBA1A Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TUBA1A Gene

Disorders for TUBA1A Gene

MalaCards: The human disease database

(13) MalaCards diseases for TUBA1A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

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.

Relevant External Links for TUBA1A

Genetic Association Database (GAD)
TUBA1A
Human Genome Epidemiology (HuGE) Navigator
TUBA1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TUBA1A
genes like me logo Genes that share disorders with TUBA1A: view

No data available for Genatlas for TUBA1A Gene

Publications for TUBA1A Gene

  1. Potent inhibition of tubulin polymerisation and proliferation of paclitaxel-resistant 1A9PTX22 human ovarian cancer cells by albendazole. (PMID: 19846910) Chu S.W. … Pourgholami M.H. (Anticancer Res. 2009) 25 26
  2. How do microtubule-targeted drugs work? An overview. (PMID: 18220533) Jordan M.A. … Kamath K. (Curr Cancer Drug Targets 2007) 25 26
  3. Classical ligands interact with native and recombinant tubulin from Onchocerca volvulus with similar rank order of magnitude. (PMID: 17662615) Wampande E.M. … Lubega G.W. (Protein Expr. Purif. 2007) 25 26
  4. Identification of genes related to Parkinson's disease using expressed sequence tags. (PMID: 17213182) Kim J.M. … Kim N.S. (DNA Res. 2006) 23 67
  5. Human fibrillarin forms a sub-complex with splicing factor 2- associated p32, protein arginine methyltransferases, and tubulins alpha 3 and beta 1 that is independent of its association with preribosomal ribonucleoprotein complexes. (PMID: 14583623) Yanagida M. … Takahashi N. (J. Biol. Chem. 2004) 23 67

Products for TUBA1A Gene

Sources for TUBA1A Gene

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