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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TUBA1A Gene

protein-coding   GIFtS: 66
GCID: GC12M049578

Tubulin, Alpha 1a

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Tubulin, Alpha 1a1 2     tubulin1
TUBA32 3 5     B-ALPHA-12
Tubulin Alpha-3 Chain2 3     hum-a-tub12
Tubulin B-Alpha-12 3     hum-a-tub22
LIS32 5     Tubulin Alpha-1A Chain2
alpha1     Tubulin, Alpha, Brain-Specific2
brain-specific1     Alpha-Tubulin 33

External Ids:    HGNC: 207661   Entrez Gene: 78462   Ensembl: ENSG000001675527   OMIM: 6025295   UniProtKB: Q71U363   

Export aliases for TUBA1A gene to outside databases

Previous GC identifers: GC12M047865 GC12M046609


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 pachygyria, and among its related super-pathways are Development Slit-Robo signaling and Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway. GO annotations related to this gene include structural molecule activity and GTP binding. An important paralog of this gene is TUBA3C.

UniProtKB/Swiss-Prot: TBA1A_HUMAN, Q71U36
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

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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TUBA1A gene promoter:
         RelA   Roaz   GATA-1   HNF-1A   PPAR-gamma1   CP2   HNF-1   SEF-1 (1)   PPAR-gamma2   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTUBA1A promoter sequence
   Search SABiosciences Chromatin IP Primers for TUBA1A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TUBA1A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q13.12   Ensembl cytogenetic band:  12q13.12   HGNC cytogenetic band: 12q13.12

TUBA1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TUBA1A gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M049578:  view genomic region     (about GC identifiers)

Start:
49,578,579 bp from pter      End:
49,583,107 bp from pter
Size:
4,529 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TBA1A_HUMAN, Q71U36 (See protein sequence)
Recommended Name: Tubulin alpha-1A chain  
Size: 451 amino acids; 50136 Da
Subunit: Dimer of alpha and beta chains
Subcellular location: Cytoplasm, cytoskeleton
Secondary accessions: A8K0B8 G3V1U9 P04687 P05209
Alternative splicing: 2 isoforms:  Q71U36-1   Q71U36-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TUBA1A: NX_Q71U36

Explore proteomics data for TUBA1A at MOPED 

Post-translational modifications:

  • UniProtKB: 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 (By
    similarity)
  • UniProtKB: 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)
  • UniProtKB: 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)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q71U36

  • TUBA1A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TUBA1A Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001257328.1  NP_001257329.1  NP_006000.2  

    ENSEMBL proteins: 
     ENSP00000301071   ENSP00000439020   ENSP00000446637   ENSP00000450268   ENSP00000446613  
     ENSP00000448725   ENSP00000449016  
    Reactome Protein details: Q71U36
    Human Recombinant Protein Products for TUBA1A: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005874microtubule TAS12090300
    GO:0005881cytoplasmic microtubule IEA--
    GO:0015630microtubule cytoskeleton IDA--
    GO:0043234protein complex ----

    TUBA1A for ontologies           About GeneDecksing



    TUBA1A Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    TUB: Tubulins

    5/7 InterPro protein domains (see all 7):
     IPR002452 Alpha_tubulin
     IPR000217 Tubulin
     IPR003008 Tubulin_FtsZ_GTPase
     IPR023123 Tubulin_C
     IPR008280 Tub_FtsZ_C

    Graphical View of Domain Structure for InterPro Entry Q71U36

    ProtoNet protein and cluster: Q71U36

    1 Blocks protein domain: IPB002452 Alpha tubulin signature

    UniProtKB/Swiss-Prot: TBA1A_HUMAN, Q71U36
    Similarity: Belongs to the tubulin family


    TUBA1A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TBA1A_HUMAN, Q71U36
    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): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IEA--
    GO:0005198structural molecule activity TAS12090300
    GO:0005200structural constituent of cytoskeleton IEA--
    GO:0005515protein binding IPI19893491
    GO:0005525GTP binding IEA--
         
    TUBA1A for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for TUBA1A:
     Decreased cell number, increas  Decreased viability of wild-ty  Increased number of mitotic ce 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tuba1a):
     behavior/neurological  cellular  growth/size  nervous system 

    TUBA1A for phenotypes           About GeneDecksing

    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TUBA1A 
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    SwitchGear 3'UTR luciferase reporter plasmidTUBA1A 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TUBA1A About   (see all 27)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Development Slit-Robo signaling
    Development Slit-Robo signaling0.92
    Pathogenic Escherichia coli infection0.43
    Cytoskeleton remodeling Slit-Robo signaling0.92
    Pathogenic Escherichia coli infection0.41
    2Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway0.93
    Parkin-Ubiquitin Proteasomal System pathway0.89
    3Cytoskeleton remodeling Neurofilaments
    Cytoskeleton remodeling Neurofilaments0.91
    Cytoplasmic microtubules0.32
    4Recruitment of mitotic centrosome proteins and complexes
    Recruitment of mitotic centrosome proteins and complexes0.83
    Mitotic G2-G2/M phases0.81
    Centrosome maturation0.83
    Loss of Nlp from mitotic centrosomes0.78
    G2/M Transition0.83
    Loss of proteins required for interphase microtubule organization,from the centrosome0.78
    5M Phase
    Mitotic Anaphase0.94
    M Phase0.88
    Separation of Sister Chromatids0.94
    Mitotic M-M/G1 phases0.88
    Mitotic Metaphase and Anaphase0.94

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/9 EMD Millipore Pathways for TUBA1A (see all 9)
        Cytoskeleton remodeling Neurofilaments
    Cytoskeleton remodeling Slit-Robo signaling
    Cytoplasmic microtubules
    Cytoskeleton remodeling Reverse signaling by ephrin B
    Cytoskeleton remodeling Keratin filaments


    1 Cell Signaling Technology (CST) Pathway for TUBA1A
        Cytoskeletal Signaling

    5/10 GeneGo (Thomson Reuters) Pathways for TUBA1A (see all 10)
        Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    Cell cycle Spindle assembly and chromosome separation
    Regulation of CFTR activity (norm and CF)
    Neurophysiological process Receptor-mediated axon growth repulsion
    Cytoskeleton remodeling Keratin filaments

    2 BioSystems Pathways for TUBA1A
        Parkin-Ubiquitin Proteasomal System pathway
    Pathogenic Escherichia coli infection


    5/40        Reactome Pathways for TUBA1A (see all 40)
        L1CAM interactions
    Mitotic Prometaphase
    Membrane Trafficking
    Protein folding
    Recruitment of mitotic centrosome proteins and complexes


    3         Kegg Pathways  (Kegg details for TUBA1A):
        Phagosome
    Gap junction
    Pathogenic Escherichia coli infection


    TUBA1A for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TUBA1A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/209 Interacting proteins for TUBA1A (Q71U362, 3 ENSP000003010714) via UniProtKB, MINT, STRING, and/or I2D (see all 209)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000232421P074372, 3, ENSP000004108294MINT-7220149 I2D: score=1 STRING: ENSP00000410829
    CYLDQ9NQC72, 3, ENSP000003089284MINT-7562676 MINT-7561617 MINT-7563186 MINT-7623764 MINT-7679557 MINT-7561703 MINT-7679902 I2D: score=2 STRING: ENSP00000308928
    ENSG00000183311P074372, 3MINT-7220149 I2D: score=1 
    ENSG00000224156P074372, 3MINT-7220149 I2D: score=1 
    ENSG00000227739P074372, 3MINT-7220149 I2D: score=1 
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000226microtubule cytoskeleton organization ----
    GO:0000278mitotic cell cycle TAS--
    GO:0006184GTP catabolic process ----
    GO:0006457protein folding TAS--

    TUBA1A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for TUBA1A available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Vinorelbine ditartrateSelective mitotic microtubule antagonist[125317-39-7]
    DocetaxelMicrotubule stabilizer[114977-28-5]
    Vinblastine sulfateDisrupts microtubules[143-67-9]
    ColchicineInhibitor of tubulin[64-86-8]
    Epothilone BMicrotubule stabilization agent; promotes tubulin polymerization[152044-54-7]

    1 HMDB Compound for TUBA1A    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    6 DrugBank Compounds for TUBA1A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Mebendazole-- 31431-39-7targetinhibitor12099434 11444621 15500920 8139621 17662615 10592235
    Vinblastine-- 865-21-4targetadduct14619954 9664292 1818332 15579115 18220533
    Albendazole-- 54965-21-8targetinhibitor11343808 19846910 10592235
    Epothilone BEPO 906 (see all 3)152044-54-7target--17139284 17016423
    Epothilone D-- 189453-10-9target--17139284 17016423
    2-MERCAPTO-N-[1,2,3,10-TETRAMETHOXY-9-OXO-5,6,7,9-TETRAHYDRO-BENZO[A]HEPTALEN-7-YL]ACETAMIDE-- --target--10592235

    Search CenterWatch for drugs/clinical trials and news about TUBA1A / TBA1A

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for TUBA1A gene (3 alternative transcripts): 
    NM_001270399.1  NM_001270400.1  NM_006009.3  

    Unigene Cluster for TUBA1A:

    Tubulin, alpha 1a
    Hs.654422  [show with all ESTs]
    Unigene Representative Sequence: NM_001270399
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000301071(uc001rtp.3) ENST00000295766(uc009zlf.3) ENST00000550767
    ENST00000547939 ENST00000546918 ENST00000552924 ENST00000548363 ENST00000550254
    ENST00000550811

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    Additional mRNA sequence: 

    AF141347.1 AF141348.1 AK057842.1 AK289483.1 AK297775.1 AK298838.1 BC006468.1 BC050637.2 
    BC057823.1 K00557.1 

    24/192 DOTS entries (see all 192):

    DT.91979576  DT.100744535  DT.92475435  DT.95174349  DT.97808025  DT.100744483  DT.99926623  DT.100744508 
    DT.100744455  DT.95174340  DT.100772180  DT.100744390  DT.100803172  DT.100862201  DT.100856626  DT.95174563 
    DT.100744449  DT.100744501  DT.121136681  DT.121135196  DT.100744539  DT.121135985  DT.95174557  DT.95174282 

    24/302 AceView cDNA sequences (see all 302):

    CR609811 CR604788 CR616978 CR624888 CR618187 CR619222 CR593244 CR621268 
    CR612699 CR600236 CR616625 CR593739 CR622591 CR607886 CR620710 CR592708 
    CR611647 CR605491 CR608850 CR591653 CR598719 CR608614 CR618255 CR617789 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TUBA1A expression in normal human tissues (normalized intensities)      TUBA1A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATGCTTTGT
    TUBA1A Expression
    About this image


    TUBA1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             Intervertebral Disc Nucleus Pulposus Cells Sacral Intervertebral Disc
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...

    See TUBA1A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TUBA1A

    SOURCE GeneReport for Unigene cluster: Hs.654422

    UniProtKB/Swiss-Prot: TBA1A_HUMAN, Q71U36
    Tissue specificity: Expressed at a high level in fetal brain

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TUBA1A gene from 8/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tuba1a1 , 5 tubulin, alpha 1A1, 5 93.64(n)1
    100(a)1
      15 (55.29 cM)5
    221421  NM_011653.21  NP_035783.11 
     989498415 
    chicken
    (Gallus gallus)
    Aves TUBA1A6
    tubulin, alpha 1a
    51(a)
    1 ↔ 1
    7(7007749-7009968)
    lizard
    (Anolis carolinensis)
    Reptilia TUBA1A6
    Uncharacterized protein
    100(a)
    1 ↔ 1
    GL343198.1(2591245-2598398)
    zebrafish
    (Danio rerio)
    Actinopterygii tuba1l21 tubulin, alpha 1, like 2 85.66(n)
    99.78(a)
      573216  NM_001190982.1  NP_001177911.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta alphaTub84B1 alpha-Tubulin at 84B 82.44(n)
    97.11(a)
      40848  NM_057424.3  NP_476772.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mec-121 Protein MEC-12 75.33(n)
    93.33(a)
      175419  NM_065262.4  NP_497663.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TUB3(YML124C)4
    TUB31
    Alpha-tubulin; associates with beta-tubulin (Tub2p) more4
    Tub3p1
    65.39(n)1
    73.59(a)1
      13(23683-22048)4
    8549151, 4  NP_013582.11, 4 
    barley
    (Hordeum vulgare)
    Liliopsida Hv.40302 Hordeum vulgare mRNA for alpha-tubulin 3 79.49(n)    AJ132399.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TUBA1A gene
    TUBA3C2  TUBA4A2  TUBA1B2  TUBAL32  TUBA3E2  TUBA1C2  TUBA82  TUBA3D2  
    18/29 SIMAP similar genes for TUBA1A using alignment to 5 protein entries:     TBA1A_HUMAN (see all proteins) (see all similar genes):
    TUBA2    TUBA3C    TUBA3D    TUBA1    TUBA3E    TUBA4A
    TUBA8    TUBA1C    TUBA4B    TUBA1B    DKFZp686L04275    TUBAL3
    MGC16703    TUBB6    TUBB3    TUBB2A    TUBB4A    TUBB2B

    TUBA1A for paralogs           About GeneDecksing


    5/6 Pseudogenes.org Pseudogenes for TUBA1A (see all 6)
    PGOHUM00000247823 PGOHUM00000261180 PGOHUM00000261294 PGOHUM00000246251 PGOHUM00000246419


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/189 SNPs in TUBA1A are shown (see all 189)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0393374
    Lissencephaly 3 (LIS3)4--see VAR_0393372 R H mis40--------
    VAR_0393334
    Lissencephaly 3 (LIS3)4--see VAR_0393332 P T mis40--------
    VAR_0393364
    Lissencephaly 3 (LIS3)4--see VAR_0393362 R C mis40--------
    VAR_0393344
    Lissencephaly 3 (LIS3)4--see VAR_0393342 R C mis40--------
    VAR_0393384
    Lissencephaly 3 (LIS3)4--see VAR_0393382 S L mis40--------
    VAR_0393354
    Lissencephaly 3 (LIS3)4--see VAR_0393352 L F mis40--------
    VAR_0393324
    Lissencephaly 3 (LIS3)4--see VAR_0393322 I L mis40--------
    rs122961891,2
    C,F--49411073(+) gaggcC/Tgaggc 3 -- ds50012Minor allele frequency- T:0.50WA CSA 4
    rs122962651,2
    C,F--49411083(+) caagcG/Agatca 3 -- ds50012Minor allele frequency- A:0.50WA CSA 4
    rs79531691,2
    C,F,A,H--49411127(+) TCATGG/ATGAAA 3 -- ds50015Minor allele frequency- A:0.34NA WA CSA 127

    HapMap Linkage Disequilibrium report for TUBA1A (49578579 - 49583107 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TUBA1A: --

    Human Gene Mutation Database (HGMD): TUBA1A
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602529   
    OMIM disorders: 611603  
    UniProtKB/Swiss-Prot: TBA1A_HUMAN, Q71U36
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/29 diseases for TUBA1A (see all 29):    About MalaCards
    lissencephaly 3    pachygyria    distal hereditary motor neuropathy, type ii    geniculate herpes zoster
    caffey disease    herpes zoster    lissencephaly    distal hereditary motor neuropathy
    pulmonary sclerosing hemangioma    sclerosing hemangioma    polymicrogyria    microcephaly
    hemangioma    toxic encephalopathy    hereditary spastic paraplegia    paraplegia
    spasticity    retinitis pigmentosa    neuropathy    non-small cell lung carcinoma

    1 disease from the University of Copenhagen DISEASES database for TUBA1A:
    Lissencephaly

    TUBA1A for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): TUBA1A
    Human Genome Epidemiology (HuGE) Navigator: TUBA1A (2 documents)

    Export disorders for TUBA1A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TUBA1A gene, integrated from 9 sources (see all 185):
    (articles sorted by number of sources associating them with TUBA1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Tubulins in the primate retina: evidence that xanthophylls may be endogenous ligands for the paclitaxel-binding site. (PubMed id 11504633)1, 2, 3 Crabtree D.V.... Adler A.J. (2001)
    2. Structural features and restricted expression of a human alpha- tubulin gene. (PubMed id 3839072)1, 2, 3 Hall J.L. and Cowan N.J. (1985)
    3. 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. (PubMed id 19251251)1, 4 Tomppo L....Peltonen L. (2009)
    4. Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. (PubMed id 18954413)1, 4 Morris-Rosendahl D.J....Uyanik G. (2008)
    5. Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). (PubMed id 17584854)1, 2 Poirier K.... Chelly J. (2007)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Expression of human alpha-tubulin genes: interspecies conservation of 3' untranslated regions. (PubMed id 6646120)1, 2 Cowan N.J....Cleveland D.W. (1983)
    8. 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. (PubMed id 14583623)1, 9 Yanagida M.... Takahashi N. (2004)
    9. Expanding the spectrum of TUBA1A-related cortical dysg enesis to Polymicrogyria. (PubMed id 22948023)1 Poirier K....Bahi-Buisson N. (2013)
    10. Deubiquitinase FAM/USP9X interacts with the E3 ubiquit in ligase SMURF1 protein and protects it from ligase activity-dependent self-deg radation. (PubMed id 23184937)1 Xie Y....Cong F. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7846 HGNC: 20766 AceView: TUBA3 Ensembl:ENSG00000167552 euGenes: HUgn7846
    ECgene: TUBA1A Kegg: 7846 H-InvDB: TUBA1A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TUBA1A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TUBA1A gene:
    Search GeneIP for patents involving TUBA1A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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