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

ENSG00000258947 Gene

protein-coding   GIFtS: 22
GCID: GC16P089997          (predicted)

ENSG00000258947


  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)
About This Section

Aliases
TUBB43
Tubulin Beta-4 Chain3
Tubulin Beta-III3

External Ids:    Ensembl: ENSG000002589477   UniProtKB: Q135093   

Export aliases for ENSG00000258947 gene to outside databases

Previous GC identifers: GC16P089979 GC16P089992


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

GeneCards Summary for ENSG00000258947 Gene: 
ENSG00000258947 is a protein-coding gene. Diseases associated with ENSG00000258947 include cortical dysplasia, complex, with other brain malformations, and corpus callosum agenesis. An important paralog of this gene is LOC260334.

UniProtKB/Swiss-Prot: TBB3_HUMAN, Q13509
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. TUBB3 plays a critical role in proper
axon guidance and mantainance

summary for ENSG00000258947 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for ENSG00000258947
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ENSG00000258947 promoter sequence
   Search SABiosciences Chromatin IP Primers for ENSG00000258947

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ENSG00000258947


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

Ensembl cytogenetic band:  16q24.3   

ENSG00000258947 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ENSG00000258947 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P089997:  view genomic region     (about GC identifiers)

Start:
89,987,800 bp from pter      End:
90,005,169 bp from pter
Size:
17,370 bases      Orientation:
plus 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: TBB3_HUMAN, Q13509 (See protein sequence)
Recommended Name: Tubulin beta-3 chain  
Size: 450 amino acids; 50433 Da
Subunit: Dimer of alpha and beta chains
Subcellular location: Cytoplasm, cytoskeleton
Secondary accessions: Q9BTZ0 Q9BW10

Explore the universe of human proteins at neXtProt for ENSG00000258947: NX_Q13509

Explore proteomics data for ENSG00000258947 at MOPED 

Post-translational modifications:

  • 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: Phosphorylated on Ser-172 by CDK1 during the cell cycle, from metaphase to telophase, but not in interphase. This
    phosphorylation inhibits tubulin incorporation into microtubules
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13509

  • ENSG00000258947 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ENSG00000258947 Protein Expression

    ENSEMBL proteins: 
     ENSP00000450538   ENSP00000451617   ENSP00000452166   ENSP00000320295   ENSP00000452001  
     ENSP00000451378   ENSP00000451985   ENSP00000451465   ENSP00000452554   ENSP00000450822  
     ENSP00000451276   ENSP00000450765   ENSP00000302777  
    Reactome Protein details: Q13509
    Human Recombinant Protein Products for ENSG00000258947: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm ----
    GO:0005874microtubule ----
    GO:0005886plasma membrane ----
    GO:0015630microtubule cytoskeleton ----

    ENSG00000258947 for ontologies           About GeneDecksing



    ENSG00000258947 Antibody Products: 
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    Abcam antibodies for ENSG00000258947
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/8 InterPro protein domains (see all 8):
     IPR002453 Beta_tubulin
     IPR000217 Tubulin
     IPR003008 Tubulin_FtsZ_GTPase
     IPR023123 Tubulin_C
     IPR008280 Tub_FtsZ_C

    Graphical View of Domain Structure for InterPro Entry Q13509

    ProtoNet protein and cluster: Q13509

    1 Blocks protein domain: IPB002453 Beta tubulin

    UniProtKB/Swiss-Prot: TBB3_HUMAN, Q13509
    Domain: The highly acidic C-terminal region may bind cations such as calcium
    Similarity: Belongs to the tubulin family


    ENSG00000258947 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: TBB3_HUMAN, Q13509
    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. TUBB3 plays a critical role in proper
    axon guidance and mantainance

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity ----
    GO:0005200structural constituent of cytoskeleton ----
    GO:0005515protein binding ----
    GO:0005525GTP binding ----
    GO:0042277peptide binding ----
         
    ENSG00000258947 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ENSG00000258947 
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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

    Pathways by sourceSee SuperPaths
    Show all pathways


    5/38        Reactome Pathways for ENSG00000258947 (see all 38)
        L1CAM interactions
    Mitotic Prometaphase
    Membrane Trafficking
    Protein folding
    Recruitment of mitotic centrosome proteins and complexes



    ENSG00000258947 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ENSG00000258947

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

    5/880 Interacting proteins for ENSG00000258947 (Q135092, 3 ENSP000003202954) via UniProtKB, MINT, STRING, and/or I2D (see all 880)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=2 
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    HIST1H4DP628053I2D: score=2 
    HIST1H4EP628053I2D: score=2 
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process ----
    GO:0006457protein folding ----
    GO:0007017microtubule-based process ----
    GO:0007067mitosis ----
    GO:0007411axon guidance ----

    ENSG00000258947 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 ENSG00000258947 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]

    Search CenterWatch for drugs/clinical trials and news about ENSG00000258947 / TBB3

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000555810 ENST00000554444(uc010ciz.1) ENST00000556565 ENST00000315491(uc002fph.2)
    ENST00000553656 ENST00000556536 ENST00000554116 ENST00000554927 ENST00000557262(uc010cja.2)
    ENST00000557490 ENST00000555576 ENST00000554336 ENST00000555609 ENST00000553967
    ENST00000304984(uc002fpj.1)
    miRNA
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    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

    ENSG00000258947 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ENSG00000258947 Expression
    About this image


    See ENSG00000258947 Protein Expression from SPIRE MOPED and PaxDB

    UniProtKB/Swiss-Prot: TBB3_HUMAN, Q13509
    Tissue specificity: Expression is primarily restricted to central and peripheral nervous system. Greatly increased
    expression in most cancerous tissues

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ENSG00000258947 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves TUBB36
    tubulin beta-4 chain
    99(a)
    1 ↔ 1
    11(18290821-18292152)
    zebrafish
    (Danio rerio)
    Actinopterygii --
    --
    80(a)
    possible ortholog
    2(1691997-1695667)
    fruit fly
    (Drosophila melanogaster)
    Insecta betaTub85D6
    betaTub56D6
    (see all 4)
    beta-Tubulin at 56D
    (see all 4)
    87(a)
    85(a)
    (see all 4)
    1 ↔ many
    possible ortholog
    (see all 4)
    3R(5234105-5236004)
    2R(15334824-15339122)
    worm
    (Caenorhabditis elegans)
    Secernentea mec-76
    tbb-46
    (see all 5)
    Tubulin beta-4 chain
    (see all 5)
    86(a)
    86(a)
    (see all 5)
    possible ortholog
    possible ortholog
    (see all 5)
    X(7774856-7776682)
    X(9434452-9436893)
            Species with no ortholog for ENSG00000258947

    ENSEMBL Gene Tree for ENSG00000258947 (if available)
    TreeFam Gene Tree for ENSG00000258947 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ENSG00000258947 gene
    LOC2603342  TUBB2  TUBB4B2  TUBB4A2  TUBB82  TUBB2B2  TUBB32  TUBE12  
    TUBB62  TUBB2A2  TUBB12  

    ENSG00000258947 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ENSG00000258947
    PGOHUM00000260185


    (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
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing ENSG00000258947
    DNA2.0 Custom Variant and Variant Library Synthesis for ENSG00000258947

    (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
    UniProtKB/Swiss-Prot: TBB3_HUMAN, Q13509
  • Congenital fibrosis of extraocular muscles 3A (CFEOM3A) [MIM:600638]: A congenital ocular motility
    disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or
    trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward
    tilt of the head. Congenital fibrosis of extraocular muscles type 3 presents as a non-progressive, autosomal
    dominant disorder with variable expression. Patients may be bilaterally or unilaterally affected, and their
    oculo-motility defects range from complete ophthalmoplegia (with the eyes fixed in a hypo- and exotropic
    position), to mild asymptomatic restrictions of ocular movement. Ptosis, refractive error, amblyopia, and
    compensatory head positions are associated with the more severe forms of the disorder. In some cases, the ocular
    phenotype is accompanied by additional features including developmental delay, corpus callosum agenesis, basal
    ganglia dysmorphism, facial weakness, polyneuropathy. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Cortical dysplasia complex with other brain malformations (CDCBM) [MIM:614039]: A disorder of aberrant
    neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental retardation,
    strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development,
    including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus
    callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 16 diseases for ENSG00000258947:    About MalaCards
    cortical dysplasia, complex, with other brain malformations    corpus callosum agenesis    polymicrogyria    amblyopia
    brain malformations    refractive error    cutaneous malignant melanoma    strabismus
    ophthalmoplegia    polyneuropathy    hypotonia    spasticity
    mental retardation    melanoma    neuronitis    prostatitis


    ENSG00000258947 for disorders           About GeneDecksing


    Export disorders for ENSG00000258947 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 ENSG00000258947 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ENSG00000258947)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the neuronal A9-tubulin subunit TUBB3 res ult in malformation of cortical development and neuronal migration defects. (PubMed id 20829227)2 Poirier K....Chelly J. (2010)
    2. Tumoral and tissue-specific expression of the major h uman beta-tubulin isotypes. (PubMed id 20191564)2 Leandro-GarcA-a L.J....RodrA-guez-Antona C. (2010)
    3. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. (PubMed id 20074521)2 Tischfield M.A.... Engle E.C. (2010)
    4. Evolutionary divergence of enzymatic mechanisms for posttranslational polyglycylation. (PubMed id 19524510)2 Rogowski K....Janke C. (2009)
    5. Microtubule regulation in mitosis: tubulin phosphorylation by the cyclin-dependent kinase Cdk1. (PubMed id 16371510)2 Fourest-Lieuvin A....Job D. (2006)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    7. Class III beta-tubulin isotype: a key cytoskeletal protein at the crossroads of developmental neurobiology and tumor neuropathology. (PubMed id 14736079)2 Katsetos C.D.... Mork S.J. (2003)
    8. Cloning and sequencing of human betaIII-tubulin cDNA: induction of betaIII isotype in human prostate carcinoma cells by acute exposure to antimicrotubule agents. (PubMed id 9473684)2 Ranganathan S.... Hudes G.R. (1998)

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    Ensembl:ENSG00000258947

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    Patent Information for ENSG00000258947 gene:
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