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

TUBA1A Gene

protein-coding   GIFtS: 62
GCID: GC12M049578

tubulin, alpha 1a
 Explore 37 diseases affiliated with
TUBA1A via
MalaCards
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 Human Malady Compendium 
Biological research products
for TUBA1A    

Aliases
for TUBA1A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Tubulin, Alpha 1a1 2     FLJ251131
TUBA31 2 3 5     Hum-A-Tub11
B-ALPHA-11 2     Hum-A-Tub21
Tubulin Alpha-3 Chain2 3     Tubulin Alpha-1A Chain2
Tubulin B-Alpha-12 3     Tubulin, Alpha, Brain-Specific2
LIS32 5     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


Summaries
for TUBA1A gene

(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:
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)

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:
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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
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 plasmid: TUBA1A 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

Proteins
for TUBA1A gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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 P04687 P05209

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

Post-translational modifications:

  • 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)1
  • 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)1
  • 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)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q71U36

    • TUBA1A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000301071   ENSP00000449182   ENSP00000449413   ENSP00000449019   ENSP00000439020  
     ENSP00000446637   ENSP00000450268   ENSP00000446613   ENSP00000448957   ENSP00000448725  
     ENSP00000449016  
    Reactome Protein details: Q71U36
    Human Recombinant Protein Products: 
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    Browse Proteins at Uscn

    Gene Ontology (GO): 4 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--


    TUBA1A for ontologies           About GeneDecksing



    TUBA1A Antibody Products: 
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    Protein Domains /
    Families
    for TUBA1A gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TUBA1A for domains           About GeneDecksing

    5/7 InterPro domains/families (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 family: IPB002452 Alpha tubulin signature

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


    Function
    for TUBA1A gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate TUBA1A (see all 10):
    hsa-miR-15a hsa-miR-3065-3p hsa-miR-497 hsa-miR-339-5p hsa-miR-424 hsa-miR-670 hsa-miR-195 hsa-miR-16
    SwitchGear 3'UTR luciferase reporter plasmid: TUBA1A 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IEA--
    GO:0005198structural molecule activity TAS12090300
    GO:0005200structural constituent of cytoskeleton ----
    GO:0005525GTP binding IEA--
    GO:0019904protein domain specific binding ----


    TUBA1A for ontologies           About GeneDecksing


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

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

    TUBA1A for phenotypes           About GeneDecksing


    Pathways & Interactions
    for TUBA1A gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/29 super-pathways (see all 29) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Recruitment of mitotic centrosome proteins and complexes
    		Recruitment of mitotic centrosome proteins and complexes1.00
    		Mitotic G2-G2/M phases0.81
    		Centrosome maturation1.00
    		Loss of proteins required for interphase microtubule organization from the centrosome0.78
    		G2/M Transition0.83
    		Loss of Nlp from mitotic centrosomes0.78
    2M Phase
    		M Phase1.00
    		Mitotic Anaphase0.85
    		Mitotic M-M/G1 phases0.88
    		Separation of Sister Chromatids0.80
    		Mitotic Metaphase and Anaphase0.85
    3Axon guidance
    		Axon guidance1.00
    		L1CAM interactions0.39
    		Developmental Biology0.69
    		Recycling pathway of L10.15
    4Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
    		Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane1.00
    		Post-chaperonin tubulin folding pathway0.67
    		Transport of connexons to the plasma membrane0.93
    		Recruitment of NuMA to mitotic centrosomes0.50
    5Formation of tubulin folding intermediates by CCT/TriC
    		Formation of tubulin folding intermediates by CCT/TriC1.00
    		Prefoldin mediated transfer of substrate to CCT/TriC0.70
    		Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding0.74

    Pathway sources
    See GeneCards unified pathways
    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

    5/43        Reactome Pathways for TUBA1A (see all 43)
        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)

    5/197 Interacting proteins for TUBA1A (Q71U362, 3 ENSP000003010714) via UniProtKB, MINT, STRING, and/or I2D (see all 197)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HDAC6Q9UBN72, 3, ENSP000003340614MINT-13948 MINT-7679902 I2D: score=4 STRING: ENSP00000334061
    IKBKGQ9Y6K92, 3, ENSP000003586224MINT-48246 I2D: score=2 STRING: ENSP00000358622
    KELP232762, 3, ENSP000003474094MINT-8259150 I2D: score=2 STRING: ENSP00000347409
    SMN1Q166372, 3MINT-8271630 I2D: score=2 
    SMN2Q166372, 3MINT-8271630 I2D: score=2 
    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:0006457protein folding TAS--
    GO:0007017microtubule-based process TAS12090300


    TUBA1A for ontologies           About GeneDecksing



    Drugs & Compounds
    for TUBA1A gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 #
    XRP44XRas-Net pathway inhibitor[729605-21-4]
    TaxolPromotes assembly and inhibits disassembly of microtubules[33069-62-4]
    Vincristine sulfateDisrupts microtubules[2068-78-2]
    Vinblastine sulfateDisrupts microtubules[143-67-9]
    NocodazoleMicrotubule inhibitor[31430-18-9]

    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 

    Transcripts
    for TUBA1A gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    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
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000301071(uc001rtp.3) ENST00000552597 ENST00000552250 ENST00000548405
    ENST00000295766(uc009zlf.3) ENST00000550767 ENST00000547939 ENST00000546918
    ENST00000548302 ENST00000552924 ENST00000548363 ENST00000550254 ENST00000550811


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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

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

    24/191 DOTS entries (see all 191):

    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):

    CR613002 CR598719 CR611043 CR601584 CR591653 CR593029 CR620859 CR615075 
    CR605308 CR620710 CR618923 CR600175 CR611347 CR598102 CR621641 CR615697 
    CR594550 CR623412 CR623665 CR592123 CR593877 CR622155 CR614113 CR608967 

    GeneLoc Exon Structure


    Expression
    for TUBA1A gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AATGCTTTGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    TUBA1A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    CartilageCervical Intervertebral DiscIntervertebral Disc Nucleus Pulposus CellsCartilage
    CartilageLumbar Intervertebral DiscIntervertebral Disc Nucleus Pulposus CellsCartilage
    CartilageSacral Intervertebral DiscIntervertebral Disc Nucleus Pulposus CellsCartilage
    CartilageThoracic Intervertebral DiscIntervertebral Disc Nucleus Pulposus CellsCartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)

    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
    for TUBA1A gene

    (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 7/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia TUBA1A6
    		 --
    		 100(a)
    		 1 ↔ 1
    		 GL343198.1(2595738-2598398)
    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 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons TUA26
    TUA46
    (see all 6)    		 tubulin alpha-2/alpha-4 chain
    (see all 6)    		 84(a)
    84(a)
    (see all 6)    		 possible ortholog
    possible ortholog
    (see all 6)    		 1(18517586-18520000)
    1(1356191-1358386)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 4)    		 tubulin/FtsZ domain containing protein, putative, ...
    tubulin/FtsZ domain containing protein, putative, ...
    (see all 4)    		 83(a)
    83(a)
    (see all 4)    		 possible ortholog
    possible ortholog
    (see all 4)    		 3(29519151-29522158)
    11(7956251-7959135)


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

    Paralogs
    for TUBA1A gene

    (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  TUBA3D2  TUBA82  
    18/30 SIMAP similar genes for TUBA1A using alignment to 10 protein entries:     TBA1A_HUMAN (see all proteins) (see all similar genes):
    TUBA2    TUBA3C    TUBA3D    TUBA1    TUBA3E    TUBA4B
    TUBA8    TUBA4A    TUBA1B    TUBA1C    DKFZp686L04275    TUBAL3
    MGC16703    TUBB2A    TUBB2B    TUBB6    TUBB3    TUBB4Q

    TUBA1A for paralogs           About GeneDecksing


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


    Genomic Variants
    for TUBA1A gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/153 NCBI SNPs in TUBA1A are shown (see all 153)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs122961891,2
    		C,F,--49578118(+) gaggcC/Tgaggc 3 -- ds50012Minor allele frequency- T:0.50WA CSA 4
    rs122962651,2
    		C,F,--49578128(+) caagcG/Agatca 3 -- ds50012Minor allele frequency- A:0.50WA CSA 4
    rs79531691,2
    		C,F,A,H,--49578172(+) TCATGG/ATGAAA 3 -- ds50015Minor allele frequency- A:0.34NA WA CSA 127
    rs105903721,2
    		C--49578355(+) aaaaaAA/-aaaaa 3 -- ds50011Minor allele frequency- -:0.50NA 2
    rs1808840191,2
    		--49578418(+) ACATTC/TTGTGT 3 -- ds50010--------
    rs1396804021,2
    		--49578419(+) CATTT-/TGTGTTT 3 -- ds50010--------
    rs1401215901,2
    		--49578582(+) ATTCAC/TTTAAG 3 -- ut310--------
    rs10624401,2
    		C,--49578661(-) ATGCTC/TTAAAA 3 -- ut312Minor allele frequency- T:0.00MN NA 186
    rs1502938561,2
    		--49578679(+) TAATTA/GTATAT 3 -- ut310--------
    rs115580661,2
    		--49578706(+) ACATAC/TAAATT 3 -- ut310--------

    HapMap Linkage Disequilibrium report for TUBA1A (49578579 - 49583107 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TUBA1A: --
    Human Gene Mutation Database (HGMD): TUBA1A

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    Disorders / Diseases
    for TUBA1A gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    TUBA1A for disorders           About GeneDecksing

    OMIM gene information: 602529   
    OMIM disorders: 611603  
    UniProtKB/Swiss-Prot: TBA1A_HUMAN, Q71U36
  • Defects in TUBA1A are the cause of lissencephaly type 3 (LIS3) [MIM:611603]. LIS is characterized by a smooth
    • brain surface due to the absence (agyria) or reduction (pachygyria) of surface convolutions. It is often associated
    with psychomotor retardation and seizures. LIS3 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

    20/37 diseases for TUBA1A (see all 37):    About MalaCards
    lissencephaly    distal hereditary motor neuropathy    distal hereditary motor neuropathy, type ii    microcephaly
    geniculate herpes zoster    non-small cell lung carcinoma    sclerosing hemangioma    spastic paraplegia
    hereditary spastic paraplegia    treacher collins syndrome    pulmonary sclerosing hemangioma    corpus callosum
    herpes zoster    pachygyria    paraplegia    lissencephaly 3
    toxic encephalopathy    hemangioma    polymicrogyria    spasticity

    2 diseases from the University of Copenhagen DISEASES database for TUBA1A:
    Lissencephaly     Caffey disease
    Human Genome Epidemiology (HuGE) Navigator: TUBA1A (2 documents)

    Export disorders for TUBA1A gene to outside databases

    Publications
    for TUBA1A gene

    (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 154):
    (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. 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)
    4. 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)
    5. Expression of human alpha-tubulin genes: interspecies conservation of 3' untranslated regions. (PubMed id 6646120)1, 2 Cowan N.J....Cleveland D.W. (1983)
    6. 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)
    7. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    8. The small molecule inhibitor PR-619 of deubiquitinatin g enzymes affects the microtubule network and causes protein aggregate formation in neural cells: implications for neurodegenerative diseases. (PubMed id 22565157)1 Seiberlich V....Richter-Landsberg C. (2012)
    9. TUBA1A mutation-associated lissencephaly: case report and review of the literature. (PubMed id 22264709)1 Sohal A.P....Ramesh V. (2012)
    10. Host cell interactome of HIV-1 Rev includes RNA helica ses involved in multiple facets of virus production. (PubMed id 22174317)1 Naji S....Gerace L. (2012)

    External Searches for TUBA1A gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    OMIM
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    Genome Databases showing TUBA1A gene

    (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

    Other Databases showing TUBA1A gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TUBA1A gene

    (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

    Intellectual Property
    for TUBA1A gene

    (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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