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TUBB1 Gene

protein-coding   GIFtS: 64
GCID: GC20P057594

Tubulin, Beta 1 Class VI

(Previous names: tubulin, beta 1)
  See TUBB1-related disease
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, Beta 1 Class VI1 2
Class VI Beta-Tubulin1 2
Tubulin, Beta 11
Beta Tubulin 1, Class VI2
Tubulin Beta-1 Chain2

External Ids:    HGNC: 162571   Entrez Gene: 810272   Ensembl: ENSG000001011627   OMIM: 6129015   UniProtKB: Q9H4B73   

Export aliases for TUBB1 gene to outside databases

Previous GC identifers: GC20P057322 GC20P058232 GC20P058279 GC20P057027 GC20P054381


(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 TUBB1 Gene:
This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families
(alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically
expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A
mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene
are found on chromosome Y.(provided by RefSeq, Jul 2010)

GeneCards Summary for TUBB1 Gene:
TUBB1 (tubulin, beta 1 class VI) is a protein-coding gene. Diseases associated with TUBB1 include macrothrombocytopenia, autosomal dominant, tubb1-related. GO annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is LOC260334.

UniProtKB/Swiss-Prot: TBB1_HUMAN, Q9H4B7
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 (By similarity)

summary for TUBB1 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 TUBB1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NC_018931.2  NT_011362.11  
Regulatory elements:
   Regulatory transcription factor binding sites in the TUBB1 gene promoter:
         SRF   C/EBPbeta   Pax-6   SRF (504 AA)   YY1   C/EBPalpha   En-1   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTUBB1 promoter sequence
   Search Chromatin IP Primers for TUBB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TUBB1


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

Entrez Gene cytogenetic band: 20q13.32   Ensembl cytogenetic band:  20q13.32   HGNC cytogenetic band: 20q13.32

TUBB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TUBB1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P057594:  view genomic region     (about GC identifiers)

Start:
57,594,309 bp from pter      End:
57,601,709 bp from pter
Size:
7,401 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TBB1_HUMAN, Q9H4B7 (See protein sequence)
Recommended Name: Tubulin beta-1 chain  
Size: 451 amino acids; 50327 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. Interacts with RANBP10

Explore the universe of human proteins at neXtProt for TUBB1: NX_Q9H4B7

Explore proteomics data for TUBB1 at MOPED

Post-translational modifications: 

  • 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
  • Ubiquitination2 at Lys252
  • Modification sites at PhosphoSitePlus

  • See TUBB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_110400.1  
    ENSEMBL proteins: 
     ENSP00000217133  
    Reactome Protein details: Q9H4B7

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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 8):
     IPR002453 Beta_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 Q9H4B7

    ProtoNet protein and cluster: Q9H4B7

    1 Blocks protein domain: IPB002453 Beta tubulin

    UniProtKB/Swiss-Prot: TBB1_HUMAN, Q9H4B7
    Similarity: Belongs to the tubulin family


    Find genes that share domains with TUBB1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TBB1_HUMAN, Q9H4B7
    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 (By similarity)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IEA--
    GO:0005200structural constituent of cytoskeleton IEA--
    GO:0005525GTP binding IEA--
         
    Find genes that share ontologies with TUBB1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TUBB1:
     Synthetic lethal with Ras 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tubb1):
     hematopoietic system  homeostasis/metabolism 

    Find genes that share phenotypes with TUBB1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Tubb1tm1Shiv for TUBB1

       genOway: Develop your customized and physiologically relevant rodent model for TUBB1

    miRNA
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    miRTarBase miRNAs that target TUBB1:
    hsa-mir-183-5p (MIRT047076)

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    hsa-miR-133a hsa-miR-544 hsa-miR-1197 hsa-miR-9* hsa-miR-133b hsa-miR-223*
    SwitchGear 3'UTR luciferase reporter plasmidTUBB1 3' UTR sequence
    Inhib. RNA
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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
    TBB1_HUMAN, Q9H4B7: Cytoplasm, cytoskeleton
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    plasma membrane4
    nucleus2
    extracellular1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA18849486
    GO:0005874microtubule IEA--
    GO:0005886plasma membrane ----
    GO:0015630microtubule cytoskeleton ----
    GO:0043234protein complex ----

    Find genes that share ontologies with TUBB1           About GenesLikeMe


    (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 TUBB1 About   (see all 21)  
    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
    4Signaling in Gap Junctions
    Gap junction0.31
    Signaling in Gap Junctions0.31
    5Protein folding
    Chaperonin-mediated protein folding0.91
    Post-chaperonin tubulin folding pathway0.00
    Protein folding0.91


    Find genes that share SuperPaths with TUBB1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TUBB1 (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 TUBB1 (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 TUBB1
        Parkin-Ubiquitin Proteasomal System pathway
    Pathogenic Escherichia coli infection


    Selected Reactome Pathways for TUBB1 (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 TUBB1):
        Phagosome
    Gap junction
    Pathogenic Escherichia coli infection

        Pathway & Disease-focused RT2 Profiler PCR Array including TUBB1: 
              Gap Junctions in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for TUBB1

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

    Selected Interacting proteins for TUBB1 (Q9H4B72, 3 ENSP000002171334) via UniProtKB, MINT, STRING, and/or I2D (see all 722)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DYNC1I1O145762, 3, ENSP000003201304MINT-1891351 I2D: score=1 STRING: ENSP00000320130
    SNW1Q135732, 3, ENSP000002615314MINT-7945693 I2D: score=1 STRING: ENSP00000261531
    NSFP464592, 3MINT-7945693 I2D: score=1 
    PRKAG1P546192, 3MINT-7945693 I2D: score=1 
    SQSTM1Q135012, 3MINT-7945693 I2D: score=1 
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    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process ----
    GO:0006457protein folding TAS--
    GO:0007017microtubule-based process ----
    GO:0044267cellular protein metabolic process TAS--
    GO:0051084'de novo' posttranslational protein folding TAS--

    Find genes that share ontologies with TUBB1           About GenesLikeMe



    (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 Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for TUBB1 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 TUBB1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    7 DrugBank Compounds for TUBB1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ColchicineColchicin (see all 3)64-86-8targetinhibitor20814887 17139284 15720245 20586571 17016423 19527023
    Paclitaxel7-epi-Paclitaxel (see all 8)33069-62-4targetinhibitor17139284 17016423 1350385 17314054 19575780
    VindesineDesacetylvinblastine Amide Sulfate (see all 2)59917-39-4targetinhibitor10920282 17465195 17139284 17878523 17016423
    DocetaxelDocetaxel anhydrous (see all 4)114977-28-5target--15161985 11309480 18559268 15698529
    Epothilone BEPO 906 (see all 3)152044-54-7target--17139284 17016423
    Epothilone D-- 189453-10-9target--17139284 17016423
    CabazitaxelRPR-116258A (see all 5)183133-96-2targetbinder--



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TUBB1 gene: 
    NM_030773.3  

    Unigene Cluster for TUBB1:

    Tubulin, beta 1 class VI
    Hs.303023  [show with all ESTs]
    Unigene Representative Sequence: NM_030773
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000217133(uc002yak.3)
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    Additional mRNA sequence: 

    AJ292757.1 BC033679.1 

    2 DOTS entries:

    DT.442802  DT.426692 

    Selected AceView cDNA sequences (see all 40):

    AI292170 H72612 BP339504 AA704444 N66926 AJ292757 H61093 NM_030773 
    N69201 BX114569 AI051426 BG537584 H57679 BE830928 CD632718 BU580413 
    CD632714 CD632712 BI821931 AL601565 BU580873 BC033679 H81140 H57678 

    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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    TUBB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTCCTCTGG
    TUBB1 Expression
    About this image


    TUBB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Proerythroblasts Hematopoietic Bone Marrow
     
     Yolk Sac (Extraembryonic Tissues)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
     
     Neural Tube (Nervous System)
             Otx2+Corin+ cells
     
     Liver (Hepatobiliary System)
     
     Spleen (Hematopoietic System)
    TUBB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TUBB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.303023

    UniProtKB/Swiss-Prot: TBB1_HUMAN, Q9H4B7
    Tissue specificity: Hematopoietic cell-specific. Major isotype in leukocytes, where it represents 50% of all
    beta-tubulins

        Pathway & Disease-focused RT2 Profiler PCR Array including TUBB1: 
              Gap Junctions in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TUBB1

    (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 animals and fungi.

    Orthologs for TUBB1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tubb11 , 5 tubulin, beta 1 class VI1, 5 85.37(n)1
    91.8(a)1
      2 (97.95 cM)5
    5454861  NM_001080971.21  NP_001074440.11 
     1744506955 
    chicken
    (Gallus gallus)
    Aves TUBB11 tubulin, beta 1 class VI 76.28(n)
    85.58(a)
      396427  NM_205445.1  NP_990776.1 
    lizard
    (Anolis carolinensis)
    Reptilia TUBB16
    tubulin, beta 1 class VI
    80(a)
    1 ↔ 1
    GL343770.1(173297-184456)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004982301 tubulin beta-6 chain-like 76.77(n)
    81.61(a)
      100498230  XM_002941712.2  XP_002941758.2 
    zebrafish
    (Danio rerio)
    Actinopterygii tubb11 tubulin, beta 1 class VI 71.78(n)
    80.47(a)
      558552  XM_005172125.1  XP_005172182.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta &bgr;Tub56D3 cytoskeleton organization and
    biogenesis structural more
    87(a)
    (best of 4)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea mec-73 beta tubulin 78(a)
    (best of 5)
      X(7810216-7811403)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TUB26
    Beta-tubulin; associates with alpha-tubulin (Tub1p...
    66(a)
    1 → many
    VI(56336-57709) YFL037W


    ENSEMBL Gene Tree for TUBB1 (if available)
    TreeFam Gene Tree for TUBB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TUBB1 gene
    LOC2603342  TUBB8P72  TUBB2  TUBB4B2  TUBB4A2  TUBB82  TUBB2B2  TUBB32  
    TUBE12  TUBB62  TUBB2A2  ENSG000002589472  
    Selected SIMAP similar genes for TUBB1 using alignment to 1 protein entry:     TBB1_HUMAN(see all similar genes):
    TUBB2B    TUBB3    DKFZp566F223    XTP3TPATP1    TUBB2A    TUBB8
    TUBB4B    TUBB4Q    TUBB2C    TUBB6    TUBB    TUBB4A
    TUBA1A    DKFZp686L04275    TUBG1    TUBA8    TUBA1C    TUBA2

    Find genes that share paralogs with TUBB1           About GenesLikeMe


    4 Pseudogenes.org Pseudogenes for TUBB1
    PGOHUM00000239376 PGOHUM00000243617 PGOHUM00000233755 PGOHUM00000233988


    (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 TUBB1 (see all 286)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219185551,2,,4
    CMacrothrombocytopenia, autosomal dominant, TUBB1-related (MAD-TUBB1)4 pathogenic157569428(+) TTTTCC/TGGGGC 2 R W mis11Minor allele frequency- T:0.00NA 4548
    rs1431222941,2
    C--57562315(+) TACCAC/TCCTCT 1 -- us2k10--------
    rs1482568171,2
    C--57562630(+) CCTGTA/GGAAGG 1 -- us2k10--------
    rs1412011001,2
    --57562755(+) GGAGGA/GAAGGA 1 -- us2k10--------
    rs1473655031,2
    --57562852(+) GCTAGG/TAGTGC 1 -- us2k10--------
    rs1905210781,2
    --57562968(+) TCCCCA/GTCCAT 1 -- us2k10--------
    rs1818654361,2
    --57563041(+) AGGTGA/GTTGCT 1 -- us2k10--------
    rs1380311271,2
    --57563147(+) GCAGCA/GTCCAC 1 -- us2k10--------
    rs72666931,2
    C,F--57563153(+) TCCACT/CGGCTC 1 -- us2k16Minor allele frequency- C:0.11NA WA EA 364
    rs1169688701,2
    C,F--57563168(+) CTTCCG/AAGCCA 1 -- us2k11Minor allele frequency- A:0.04NA 120

    HapMap Linkage Disequilibrium report for TUBB1 (57594309 - 57601709 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TUBB1: --
    Human Gene Mutation Database (HGMD): TUBB1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TUBB1
    DNA2.0 Custom Variant and Variant Library Synthesis for TUBB1

    (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.)
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    OMIM gene information: 612901   
    OMIM disorders: 613112  
    UniProtKB/Swiss-Prot: TBB1_HUMAN, Q9H4B7
  • Macrothrombocytopenia, autosomal dominant, TUBB1-related (MAD-TUBB1) [MIM:613112]: A congenital blood
    disorder characterized by increased platelet size and decreased number of circulating platelets. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 1 disease for TUBB1:    
    About MalaCards
    macrothrombocytopenia, autosomal dominant, tubb1-related


    Find genes that share disorders with TUBB1           About GenesLikeMe

    Genetic Association Database (GAD): TUBB1
    Human Genome Epidemiology (HuGE) Navigator: TUBB1 (9 documents)

    Export disorders for TUBB1 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 TUBB1 gene, integrated from 10 sources (see all 74):
    (articles sorted by number of sources associating them with TUBB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure. (PubMed id 15956286)1, 2, 4 Freson K.... Van Geet C. (Blood 2005)
    2. Study of 18 functional hemostatic polymorphisms in mucocutaneous bleeding disorders. (PubMed id 20532885)1, 4 AntA^n A.I....Mezzano D. (Ann. Hematol. 2010)
    3. Tumoral and tissue-specific expression of the major human beta- tubulin isotypes. (PubMed id 20191564)1, 2 Leandro-Garcia L.J....Rodriguez-Antona C. (Cytoskeleton 2010)
    4. Genotype-phenotype relationship for six common polymorphisms in genes affecting platelet function from 286 healthy subjects and 160 patients with mucocutaneous bleeding of unknown cause. (PubMed id 19388931)1, 4 MartA-nez C....Rivera J. (Br. J. Haematol. 2009)
    5. Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly. (PubMed id 18849486)1, 2 Kunishima S.... Saito H. (Blood 2009)
    6. TUBB1 Q43P polymorphism does not protect against acute coronary syndrome and premature myocardial infarction. (PubMed id 19132255)1, 4 Navarro-NA_A+ez L....MartA-nez C. (Thromb. Haemost. 2008)
    7. 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. (Genome Res. 2004)
    8. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (Nat. Biotechnol. 2003)
    9. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    10. Poly(ADP-ribose) polymerase-1 modulates Nrf2-dependent transcription. (PubMed id 24140708)1 Wu T....Zhang D.D. (amp 2014)

    (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)
    About This Section

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    Entrez Gene: 81027 HGNC: 16257 AceView: TUBB1 Ensembl:ENSG00000101162 euGenes: HUgn81027
    ECgene: TUBB1 Kegg: 81027 H-InvDB: TUBB1

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for TUBB1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for TUBB1 gene:
    Search GeneIP for patents involving TUBB1

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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