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TUBA3D Gene

protein-coding   GIFtS: 54
GCID: GC02P132233

Tubulin, Alpha 3d

Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Tubulin, Alpha 3d1 2     Tubulin Alpha-3C/D Chain2
Alpha-Tubulin Isotype H2-Alpha1 2     TUBA23
Tubulin Alpha-2 Chain2 3     Alpha-Tubulin 23
H2-ALPHA2     Alpha-Tubulin 3C/D3

External Ids:    HGNC: 240711   Entrez Gene: 1134572   Ensembl: ENSG000000758867   UniProtKB: Q137483   

Export aliases for TUBA3D gene to outside databases

Previous GC identifers: GC02P131952 GC02P124227


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TUBA3D Gene:
This gene encodes a member of the alpha tubulin family. Tubulin is a major component of microtubules, which are
composed of alpha- and beta-tubulin heterodimers and microtubule-associated proteins in the cytoskeleton.
Microtubules maintain cellular structure, function in intracellular transport, and play a role in spindle
formation during mitosis. (provided by RefSeq, Oct 2011)

GeneCards Summary for TUBA3D Gene:
TUBA3D (tubulin, alpha 3d) is a protein-coding gene. Diseases associated with TUBA3D include alzheimer's disease, and hiv-1. GO annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBA3C.

UniProtKB/Swiss-Prot: TBA3C_HUMAN, Q13748
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 TUBA3D 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.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the TUBA3D gene promoter:
         Sox5   AML1a   Sp1   NRSF form 1   XBP-1   CUTL1   NRSF form 2   E47   Arnt   RORalpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTUBA3D promoter sequence
   Search Chromatin IP Primers for TUBA3D

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TUBA3D


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

Entrez Gene cytogenetic band: 2q21.1   Ensembl cytogenetic band:  2q21.1   HGNC cytogenetic band: 2q21.1

TUBA3D Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TUBA3D gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P132233:  view genomic region     (about GC identifiers)

Start:
132,233,666 bp from pter      End:
132,240,507 bp from pter
Size:
6,842 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TBA3C_HUMAN, Q13748 (See protein sequence)
Recommended Name: Tubulin alpha-3C/D chain  
Size: 450 amino acids; 49960 Da
Subunit: 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
Secondary accessions: A6NJQ0 Q5W099 Q6PEY3 Q96F18
Alternative splicing: 2 isoforms:  Q13748-1   Q13748-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TUBA3D: NX_Q13748

Explore proteomics data for TUBA3D at MOPED

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
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TUBA3D Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_525125.2  
    ENSEMBL proteins: 
     ENSP00000326042  
    Reactome Protein details: Q13748

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

    Selected InterPro protein domains (see all 7):
     IPR002452 Alpha_tubulin
     IPR000217 Tubulin
     IPR003008 Tubulin_FtsZ_GTPase
     IPR023123 Tubulin_C
     IPR018316 Tubulin/FtsZ_2-layer-sand-dom

    Graphical View of Domain Structure for InterPro Entry Q13748

    ProtoNet protein and cluster: Q13748

    1 Blocks protein domain: IPB002452 Alpha tubulin signature

    UniProtKB/Swiss-Prot: TBA3C_HUMAN, Q13748
    Similarity: Belongs to the tubulin family


    TUBA3D 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TBA3C_HUMAN, Q13748
    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 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IEA--
    GO:0005200structural constituent of cytoskeleton IEA--
    GO:0005515protein binding IPI16189514
    GO:0005525GTP binding IEA--
    GO:0019904protein domain specific binding ----
         
    TUBA3D for ontologies           About GeneDecksing


    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TBA3C_HUMAN, Q13748: Cytoplasm, cytoskeleton
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol3
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005874microtubule IEA--
    GO:0005881cytoplasmic microtubule ----
    GO:0015630microtubule cytoskeleton ----
    GO:0043234protein complex ----

    TUBA3D for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for TUBA3D About   (see all 13)  
    See pathways by source

    SuperPathContained pathways About
    1Development Slit Robo signaling
    Development Slit Robo signaling0.92
    Pathogenic Escherichia coli infection0.41
    Cytoskeleton remodeling Slit Robo signaling0.92
    Neurophysiological process Receptor mediated axon growth repulsion0.41
    Pathogenic Escherichia coli infection0.43
    2Parkin-Ubiquitin Proteasomal System pathway
    Proteolysis Role of Parkin in the Ubiquitin Proteasomal Pathway0.89
    Parkin-Ubiquitin Proteasomal System pathway0.89
    3Cytoplasmic microtubules
    Cytoplasmic microtubules0.32
    Cytoskeleton remodeling Neurofilaments0.32
    4Protein folding
    Chaperonin-mediated protein folding0.91
    Post-chaperonin tubulin folding pathway0.00
    Protein folding0.91
    5Prefoldin mediated transfer of substrate to CCT/TriC
    Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding0.76
    Prefoldin mediated transfer of substrate to CCT/TriC0.72
    Formation of tubulin folding intermediates by CCT/TriC0.76

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TUBA3D (see all 11)
        Sertoli-Sertoli Cell Junction Dynamics
    Remodeling of Adherens Junctions
    Molecular Mechanisms of Cancer
    Signaling in Gap Junctions
    Epithelial Adherens Junctions

    Selected GeneGo (Thomson Reuters) Pathways for TUBA3D (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 TUBA3D
        Parkin-Ubiquitin Proteasomal System pathway
    Pathogenic Escherichia coli infection


    Selected Reactome Pathways for TUBA3D (see all 13)
        Resolution of Sister Chromatid Cohesion
    Prefoldin mediated transfer of substrate to CCT/TriC
    Mitotic Prometaphase
    Translocation of GLUT4 to the plasma membrane
    Recruitment of NuMA to mitotic centrosomes


    3 Kegg Pathways  (Kegg details for TUBA3D):
        Phagosome
    Gap junction
    Pathogenic Escherichia coli infection


    TUBA3D for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TUBA3D
    Interactions:

        Search GeneGlobe Interaction Network for TUBA3D

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

    Selected Interacting proteins for TUBA3D (Q137481, 2, 3 ENSP000003260424) via UniProtKB, MINT, STRING, and/or I2D (see all 130)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NMIQ132871, 3, ENSP000002433464EBI-355068,EBI-372942 I2D: score=5 STRING: ENSP00000243346
    CHUKO151112, 3, ENSP000003594244MINT-48061 I2D: score=2 STRING: ENSP00000359424
    NFKB2Q006532, 3MINT-48763 MINT-48622 I2D: score=2 
    TAB1Q157502, 3, ENSP000002161604MINT-49179 I2D: score=2 STRING: ENSP00000216160
    NFKB1P198382, 3MINT-48558 MINT-48683 I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000226microtubule cytoskeleton organization ----
    GO:0006184GTP catabolic process ----
    GO:0006457protein folding TAS--
    GO:0007017microtubule-based process IEA--
    GO:0044267cellular protein metabolic process TAS--

    TUBA3D for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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      Browse compounds at ApexBio 

    Compounds for TUBA3D 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]



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TUBA3D gene: 
    NM_080386.3  

    Unigene Cluster for TUBA3D:

    Tubulin, alpha 3d
    Hs.503749  [show with all ESTs]
    Unigene Representative Sequence: NM_080386
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000321253(uc002tsu.4) ENST00000409047

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    Additional mRNA sequence: 

    AK093116.1 AK292253.1 BC057810.1 

    6 DOTS entries:

    DT.101980613  DT.86993860  DT.99992113  DT.100752333  DT.120981136  DT.101961241 

    Selected AceView cDNA sequences (see all 28):

    AK093116 T31971 BC057810 AX747933 AI028577 BI462670 BG723217 BI596415 
    BG773507 BG704041 AL042663 BG724164 AA770436 AA626698 BV204611 BX106685 
    AA435720 BV204607 C02960 AL044269 C04130 BV204609 BV204612 AW966211 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TUBA3D expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAGAGGGAG
    TUBA3D Expression
    About this image


    TUBA3D expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    TUBA3D Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TUBA3D Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.503749

    UniProtKB/Swiss-Prot: TBA3C_HUMAN, Q13748
    Tissue specificity: Testis specific

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    In Situ
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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TUBA3D gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    99(a)
    1 → many
    9(23399168-23405755) ENSGALG00000010439
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    100(a)
    1 → many
    3(28270544-28277986)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004902891 tubulin alpha-1A chain-like 84.7(n)
    97.73(a)
      100490289  XM_004917638.1  XP_004917695.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tuba1l1 tubulin, alpha 1, like 83.86(n)
    97.73(a)
      573122  NM_001105126.2  NP_001098596.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta alphaTub84D6
    alpha-Tubulin at 84D
    97(a)
    many ↔ many
    3R(3356478-3358454)
    worm
    (Caenorhabditis elegans)
    Secernentea tba-16
    tba-56
    Protein TBA-5 (tba-5) mRNA, complete cds
    86(a)
    83(a)
    many ↔ many
    many ↔ many
    I(9785778-9787624) WBGene00006528
    I(8353410-8357828) WBGene00006531
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TUB16
    Alpha-tubulin; associates with beta-tubulin (Tub2p...
    74(a)
    1 → many
    XIII(97941-99400) YML085C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TUA51 TUA5 71.31(n)
    84.25(a)
      832098  NM_121983.3  NP_197479.1 
    rice
    (Oryza sativa)
    Liliopsida Os07g05748001 Os07g0574800 75.04(n)
    83.79(a)
      4343694  NM_001066610.1  NP_001060075.1 
            Species with no ortholog for TUBA3D

    ENSEMBL Gene Tree for TUBA3D (if available)
    TreeFam Gene Tree for TUBA3D (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TUBA3D gene
    TUBA3C1 2  TUBA4A2  TUBA1B2  TUBA1A2  TUBA3E2  TUBA1C2  TUBA82  
    Selected SIMAP similar genes for TUBA3D using alignment to 1 protein entry:     TBA3C_HUMAN(see all similar genes):
    TUBA2    TUBA1A    TUBA3E    TUBA4A    DKFZp686L04275    TUBA8
    TUBA4B    TUBAL3    TUBA1C    TUBA1B    MGC16703    TUBB2A
    TUBB2B    TUBB3    TUBB4Q    DKFZp566F223    TUBB1    TUBB2C

    TUBA3D for paralogs           About GeneDecksing



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TUBA3D (see all 336)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs748433591,2
    F--124226830(+) AGAGGA/GGCAGG 1 -- us2k12Minor allele frequency- G:0.33NA 6
    rs788131021,2
    C--124227846(+) GTGGTA/TCCAGC 1 -- int10--------
    rs25999951,2
    --124228866(+) GCTACA/TTATTC 1 -- int10--------
    rs26219981,2
    --124228923(-) GCCATG/TTAATG 1 -- int10--------
    rs26219971,2
    --124228986(-) CTAGAA/GGTAGC 1 -- int10--------
    rs26219961,2
    --124229173(-) ATAAAA/TGTGAA 1 -- int10--------
    rs26955191,2
    --124229184(-) TGAACA/CGGAAC 1 -- int10--------
    rs25999961,2
    --124229291(+) GATGGC/TCAAAT 3 G syn10--------
    rs756567521,2
    C--124229766(+) TGCACG/TAGAGT 1 -- int11Minor allele frequency- T:0.00NA 2
    rs24436451,2
    C--124229843(-) ACTACC/ATCAGG 1 -- int11Minor allele frequency- A:0.50NA 2

    HapMap Linkage Disequilibrium report for TUBA3D (132233666 - 132240507 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TUBA3D (see all 27):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670824CNV Deletion23128226
    nsv428404CNV Loss18775914
    nsv10183CNV Loss18304495
    dgv4312n71CNV Loss21882294
    dgv476n27CNV Loss19166990
    nsv875120CNV Loss21882294
    nsv470486CNV Loss18288195
    nsv524021CNV Loss19592680
    nsv459396CNV Gain19166990
    dgv4313n71CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TUBA3D
    DNA2.0 Custom Variant and Variant Library Synthesis for TUBA3D

    (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.)
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    2 diseases for TUBA3D:    
    About MalaCards
    alzheimer's disease    hiv-1


    TUBA3D for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Export disorders for TUBA3D 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)
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    PubMed articles for TUBA3D gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with TUBA3D)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Six mouse alpha-tubulin mRNAs encode five distinct isotypes: testis- specific expression of two sister genes. (PubMed id 3785200)1, 3 Villasante A.... Cowan N.J. (Mol. Cell. Biol. 1986)
    2. The intracellular interactome of tetraspanin-enriched microdomains reveals their function as sorting machineries toward exosomes. (PubMed id 23463506)1 Perez-Hernandez D....YA!A+ez-MA^ M. (J. Biol. Chem. 2013)
    3. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PubMed id 23314748)1 Nathan J.A....Goldberg A.L. (EMBO J. 2013)
    4. Profiling of Parkin-binding partners using tandem affinity purification. (PubMed id 24244333)1 Zanon A....Pichler I. (PLoS ONE 2013)
    5. SGTA recognizes a noncanonical ubiquitin-like domain in the Bag6-Ubl4A-Trc35 complex to promote endoplasmic reticulum-associated degradation. (PubMed id 23246001)1 Xu Y....Ye Y. (Cell Rep 2012)
    6. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    7. Proteomic dissection of the von Hippel-Lindau (VHL) interactome. (PubMed id 21942715)1 Lai Y....Shiio Y. (J. Proteome Res. 2011)
    8. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    9. Huwe1, a novel cellular interactor of Gag-Pol through integrase binding, negatively influences HIV-1 infectivity. (PubMed id 21167302)1 Yamamoto S.P....Suzuki Y. (Microbes Infect. 2011)
    10. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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)
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    Entrez Gene: 113457 HGNC: 24071 AceView: H2-ALPHA Ensembl:ENSG00000075886 euGenes: HUgn113457
    ECgene: TUBA3D Kegg: 113457 H-InvDB: TUBA3D

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TUBA3D Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Tubulin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TUBA3D gene:
    Search GeneIP for patents involving TUBA3D

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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