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

TUBA1C Gene

protein-coding   GIFtS: 62
GCID: GC12P049658

Tubulin, Alpha 1c

(Previous names: tubulin, alpha 6)
(Previous symbol: TUBA6)
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)
About This Section

Aliases
Tubulin, Alpha 1c1 2     Tubulin Alpha-6 Chain2 3
TUBA61 2 3     bcm9482
Tubulin, Alpha 61 2     Tubulin Alpha-1C Chain2
Alpha-Tubulin 62 3     

External Ids:    HGNC: 207681   Entrez Gene: 847902   Ensembl: ENSG000001675537   UniProtKB: Q9BQE33   

Export aliases for TUBA1C gene to outside databases

Previous GC identifers: GC12P047908 GC12P046689


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

GeneCards Summary for TUBA1C Gene: 
TUBA1C (tubulin, alpha 1c) is a protein-coding gene. Diseases associated with TUBA1C include distal hereditary motor neuropathy, type ii, and osteoblastoma, and among its related super-pathways are Development Slit-Robo signaling and Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway. GO annotations related to this gene include structural molecule activity and GTP binding. An important paralog of this gene is TUBA3C.

UniProtKB/Swiss-Prot: TBA1C_HUMAN, Q9BQE3
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 TUBA1C 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 TUBA1C Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TUBA1C gene promoter:
         HNF-1A   YY1   PPAR-gamma1   CBF-A   CBF-B   HNF-1   PPAR-gamma2   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTUBA1C promoter sequence
   Search SABiosciences Chromatin IP Primers for TUBA1C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TUBA1C


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

TUBA1C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TUBA1C gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P049658:  view genomic region     (about GC identifiers)

Start:
49,582,519 bp from pter      End:
49,667,114 bp from pter
Size:
84,596 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: TBA1C_HUMAN, Q9BQE3 (See protein sequence)
Recommended Name: Tubulin alpha-1C chain  
Size: 449 amino acids; 49895 Da
Subunit: Dimer of alpha and beta chains
Subcellular location: Cytoplasm, cytoskeleton

Explore the universe of human proteins at neXtProt for TUBA1C: NX_Q9BQE3

Explore proteomics data for TUBA1C at MOPED 

Post-translational modifications:

  • UniProtKB: Undergoes a tyrosination/detyrosination cycle, the cyclic removal and re-addition of a C-terminal tyrosine residue
    by the enzymes tubulin tyrosine carboxypeptidase (TTCP) and tubulin tyrosine ligase (TTL), respectively (By
    similarity)
  • UniProtKB: Some glutamate residues at the C-terminus are polyglutamylated. This modification occurs exclusively on glutamate
    residues and results in polyglutamate chains on the gamma-carboxyl group. Also monoglycylated but not
    polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin
    incorporated into axonemes (cilia and flagella) whereas glutamylation is prevalent in neuronal cells, centrioles,
    axonemes, and the mitotic spindle. Both modifications can coexist on the same protein on adjacent residues, and
    lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of such
    modifications is still unclear but they regulate the assembly and dynamics of axonemal microtubules (Probable)
  • UniProtKB: Acetylation of alpha chains at Lys-40 stabilizes microtubules and affects affinity and processivity of microtubule
    motors. This modification has a role in multiple cellular functions, ranging from cell motility, cell cycle
    progression or cell differentiation to intracellular trafficking and signaling (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BQE3

  • TUBA1C Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TUBA1C Protein Expression
    REFSEQ proteins: NP_116093.1  
    ENSEMBL proteins: 
     ENSP00000443475   ENSP00000447669   ENSP00000448646   ENSP00000447910   ENSP00000301072  
     ENSP00000448211  
    Reactome Protein details: Q9BQE3
    Human Recombinant Protein Products for TUBA1C: 
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    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005874microtubule TAS12090300
    GO:0005881cytoplasmic microtubule IEA--
    GO:0015630microtubule cytoskeleton IDA--
    GO:0043234protein complex ----

    TUBA1C for ontologies           About GeneDecksing



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

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

    Graphical View of Domain Structure for InterPro Entry Q9BQE3

    ProtoNet protein and cluster: Q9BQE3

    1 Blocks protein domain: IPB002452 Alpha tubulin signature

    UniProtKB/Swiss-Prot: TBA1C_HUMAN, Q9BQE3
    Similarity: Belongs to the tubulin family


    TUBA1C 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: TBA1C_HUMAN, Q9BQE3
    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): 4 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 IEA--
    GO:0005525GTP binding IEA--
         
    TUBA1C for ontologies           About GeneDecksing


    Phenotypes:
         6 GenomeRNAi human phenotypes for TUBA1C:
     Cell division defect  Decreased Hepatitis C virus re  Decreased cell number, increas  Decreased viability of wild-ty 
     Increased gamma-H2AX phosphory  Increased number of mitotic ce 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TUBA1C About   (see all 26)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Development Slit-Robo signaling
    Development Slit-Robo signaling0.92
    Pathogenic Escherichia coli infection0.43
    Cytoskeleton remodeling Slit-Robo signaling0.92
    Pathogenic Escherichia coli infection0.41
    2Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway0.93
    Parkin-Ubiquitin Proteasomal System pathway0.89
    3Cytoskeleton remodeling Neurofilaments
    Cytoskeleton remodeling Neurofilaments0.91
    Cytoplasmic microtubules0.32
    4M Phase
    Mitotic Anaphase0.94
    M Phase0.88
    Separation of Sister Chromatids0.94
    Mitotic M-M/G1 phases0.88
    Mitotic Metaphase and Anaphase0.94
    5Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
    Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane0.93
    Post-chaperonin tubulin folding pathway0.67
    Transport of connexons to the plasma membrane0.93
    Recruitment of NuMA to mitotic centrosomes0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/9 EMD Millipore Pathways for TUBA1C (see all 9)
        Cytoskeleton remodeling Neurofilaments
    Cytoskeleton remodeling Slit-Robo signaling
    Cytoplasmic microtubules
    Cytoskeleton remodeling Reverse signaling by ephrin B
    Cytoskeleton remodeling Keratin filaments


    5/10 GeneGo (Thomson Reuters) Pathways for TUBA1C (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 TUBA1C
        Parkin-Ubiquitin Proteasomal System pathway
    Pathogenic Escherichia coli infection


    5/38        Reactome Pathways for TUBA1C (see all 38)
        L1CAM interactions
    Mitotic Prometaphase
    Membrane Trafficking
    Protein folding
    Recruitment of mitotic centrosome proteins and complexes


    3         Kegg Pathways  (Kegg details for TUBA1C):
        Phagosome
    Gap junction
    Pathogenic Escherichia coli infection


    TUBA1C for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TUBA1C

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

    5/698 Interacting proteins for TUBA1C (Q9BQE32, 3 ENSP000003010724) via UniProtKB, MINT, STRING, and/or I2D (see all 698)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAQP273482, 3, ENSP000002380814MINT-7900157 I2D: score=1 STRING: ENSP00000238081
    NSFP464592, 3MINT-7947479 I2D: score=1 
    UBA5Q9GZZ92, 3MINT-7947479 I2D: score=1 
    TJP1Q071572, 3, ENSP000002815374MINT-2984901 I2D: score=3 STRING: ENSP00000281537
    CDKN2AP427713, ENSP000003551534I2D: score=1 I2D: score=1 STRING: ENSP00000355153
    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:0000226microtubule cytoskeleton organization ----
    GO:0006184GTP catabolic process ----
    GO:0006457protein folding TAS--
    GO:0007017microtubule-based process TAS12090300
    GO:0030705cytoskeleton-dependent intracellular transport TAS12090300

    TUBA1C 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 TUBA1C 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 TUBA1C    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    3 DrugBank Compounds for TUBA1C    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    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 TUBA1C / TBA1C

    (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,
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    About This Section

    REFSEQ mRNAs for TUBA1C gene: 
    NM_032704.3  

    Unigene Cluster for TUBA1C:

    Tubulin, alpha 1c
    Hs.652390  [show with all ESTs]
    Unigene Representative Sequence: AK293589
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000549554 ENST00000550574 ENST00000541364(uc010smh.1) ENST00000549818
    ENST00000552448 ENST00000552125 ENST00000301072(uc001rtt.1) ENST00000549183
    ENST00000548470

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    Additional mRNA sequence: 

    AK223024.1 AK293589.1 BC004949.1 BC005946.1 BC011790.1 BC019298.2 BC021088.1 BC033064.1 
    BC051297.1 BC063036.1 D28390.1 

    24/170 DOTS entries (see all 170):

    DT.95214022  DT.100744545  DT.99926617  DT.100744301  DT.100842020  DT.100744421  DT.121136664  DT.95320022 
    DT.92475285  DT.100744242  DT.100744456  DT.97869896  DT.92475277  DT.121136256  DT.95174359  DT.121136350 
    DT.121134955  DT.100856215  DT.92475321  DT.92475326  DT.98083143  DT.100744540  DT.121134834  DT.97869904 

    19 AceView cDNA sequences:

    CR605574 CR595837 CR599151 CR599275 BC011790 CR613152 CR603141 D28390 
    CR599812 BC021088 CR610386 BC051297 CR624182 BC019298 BC063036 BC004949 
    NM_032704 BC005946 BC033064 

    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

    TUBA1C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGCCCTTG
    TUBA1C Expression
    About this image


    See TUBA1C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TUBA1C

    SOURCE GeneReport for Unigene cluster: Hs.652390
        SABiosciences Expression via Pathway-Focused PCR Array including TUBA1C: 
              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 TUBA1C

    (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 TUBA1C gene from 9/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tuba1c1 , 5 tubulin, alpha 1C1, 5 93.76(n)1
    99.33(a)1
      15 (55.61 cM)5
    221461  NM_009448.41  NP_033474.11 
     990298915 
    lizard
    (Anolis carolinensis)
    Reptilia TUBA1C6
    tubulin, alpha 1c
    99(a)
    1 ↔ 1
    GL343198.1(2510602-2522950)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC046841.12   -- 86.81(n)    BC046841.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tuba11 tubulin, alpha 1 85.23(n)
    98(a)
      373080  NM_194388.2  NP_919369.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta alphaTub85E1 alpha-Tubulin at 85E 80.25(n)
    94.65(a)
      41183  NM_079573.4  NP_524297.1 
    worm
    (Caenorhabditis elegans)
    Secernentea tba-91 Protein TBA-9 71.23(n)
    85.65(a)
      185538  NM_076154.2  NP_508555.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TUB11 Tub1p 64.87(n)
    74.83(a)
      854889   NP_013625.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TUA21 tubulin alpha-2/alpha-4 chain 75.28(n)
    85.75(a)
      841425  NM_103889.3  NP_175423.1 
    rice
    (Oryza sativa)
    Liliopsida Os.95042 O.sativa mRNA for alpha-tubulin (clone OSTA-274) 79.93(n)    AK069140.1 


    ENSEMBL Gene Tree for TUBA1C (if available)
    TreeFam Gene Tree for TUBA1C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TUBA1C gene
    TUBA3C2  TUBA4A2  TUBA1B2  TUBA1A2  TUBAL32  TUBA3E2  TUBA82  TUBA3D2  
    18/190 SIMAP similar genes for TUBA1C using alignment to 6 protein entries:     TBA1C_HUMAN (see all proteins) (see all similar genes):
    TUBA1    TUBA4B    TUBA1A    TUBA4A    FP1523    ZNF114
    TUBA1B    NDUFS3    PUS1    TUBA2    TUBA3C    TUBA3D
    TUBA3E    NLN    PACRG    SH2B3    TM4SF19    TUBA8

    TUBA1C for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for TUBA1C
    PGOHUM00000244008 PGOHUM00000261295 PGOHUM00000244705


    (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

    57/168 SNPs in TUBA1C are shown (see all 168)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1907773521,2
    C--49493631(+) AGATCG/TCACCA 1 -- int10--------
    rs23354521,2
    C,F,A,H--49493648(-) GTCTCG/CCTGGA 1 -- int16Minor allele frequency- C:0.03NS EA NA 632
    rs1397223061,2
    --49493673(+) ACGTAC/TATGAA 1 -- int10--------
    rs1831612351,2
    --49493676(+) TACATG/TAATTT 1 -- int10--------
    rs733062631,2
    C,F--49493707(+) AATACA/TTGTAT 1 -- int13Minor allele frequency- T:0.06WA CSA 122
    rs111689481,2
    C,F,A,H--49493751(+) AAGCAG/ATACCA 1 -- int120Minor allele frequency- A:0.19NS EA NA WA CSA 2338
    rs123100931,2
    C,F--49494033(+) AATTGC/GGGGCG 1 -- int11Minor allele frequency- G:0.06WA 118
    rs1443831061,2
    --49494160(+) GCTTTC/TTGGGG 1 -- int10--------
    rs1461111731,2
    C--49494238(+) CCCAGC/TACTTT 1 -- int10--------
    rs1880015591,2
    --49494252(+) AGGCCA/GAGGTG 1 -- int10--------
    rs1907438711,2
    --49494278(+) GTCAGA/GAGTTC 1 -- int10--------
    rs1484344581,2
    --49494331(+) AAATAC/TGAAAA 1 -- int10--------
    rs37591701,2
    C--49494341(-) GCCTGC/GCTTAT 1 -- int13Minor allele frequency- G:0.04NA WA 240
    rs1425377141,2
    --49494382(+) TTGGGA/TGGCTG 1 -- int10--------
    rs116125091,2
    C,H--49494453(+) cagagT/Cgagac 1 -- int11Minor allele frequency- C:0.00NA 2
    rs1509334701,2
    --49494473(+) AAAAGA/GTAAAC 1 -- int10--------
    rs1832868871,2
    --49494481(+) AACATC/GATGCA 1 -- int10--------
    rs761037541,2
    F--49494516(+) AGAACA/GAACTA 1 -- int10--------
    rs1878229671,2
    --49494564(+) ACCCAA/GGTGAT 1 -- int10--------
    rs1922268581,2
    --49494658(+) TAGGGC/TTTTTA 1 -- int10--------
    rs1445647741,2
    --49494668(+) ATTATC/GTCTTG 1 -- int10--------
    rs1844326361,2
    --49494697(+) TTTGAG/TAACTT 1 -- int10--------
    rs1874516551,2
    --49494721(+) TCTCCA/CAAGTG 1 -- int10--------
    rs1926302721,2
    C--49494740(+) GACTTA/CTGATG 1 -- int10--------
    rs1478462081,2
    --49494741(+) ACTTAC/TGATGA 1 -- int10--------
    rs111689511,2
    C,F--49494759(+) AACACC/TCTTTT 1 -- int12Minor allele frequency- T:0.39NA EA 240
    rs111689521,2
    C,F,A--49494820(+) TTACTT/AAGCAG 1 -- int11Minor allele frequency- A:0.06WA 118
    rs1414034451,2
    C--49494882(+) TCTAAA/GTTAAC 1 -- int10--------
    rs3678192521,2
    C--49494925(+) AGAGA-/ACACA 
    C
    /CACACA
    CACAC
    3 -- int1 cds10--------
    rs1449768921,2
    --49494942(+) AGACAC/GAGACA 1 -- int10--------
    rs2017037081,2
    --49494945(+) CACAG-/ACACAGA 1 -- int10--------
    rs111689531,2
    C,F,A--49494958(+) TCTTGC/GCTCTG 1 -- int11Minor allele frequency- G:0.03EA 120
    rs111689541,2
    C,F,A,H--49495006(+) ccgccA/Gcctcc 1 -- int12Minor allele frequency- G:0.03NS WA 238
    rs1507908291,2
    C--49495072(+) AGGCGC/TGCACC 1 -- int10--------
    rs1432857281,2
    --49495081(+) CCACCA/TTGCCT 1 -- int10--------
    rs1483118471,2
    C--49495136(+) GGCCAA/GGCTGT 1 -- int10--------
    rs125810571,2
    C,F,H--49495318(+) GCTCAC/ACTTGG 1 -- int12Minor allele frequency- A:0.37NA 8
    rs1155679221,2
    C,F--49495372(+) AATTTC/TTTAAC 1 -- int11Minor allele frequency- T:0.04WA 118
    rs79586791,2
    C,F--49495435(+) TCTTCC/TGGAGA 1 -- int1 trp32Minor allele frequency- T:0.07NA 122
    rs771576061,2
    F--49495436(+) CTTCCG/AGAGAT 1 -- int11Minor allele frequency- A:0.03WA 118
    rs1855279451,2
    --49495512(+) CCTCTG/TACCAC 1 -- int10--------
    rs1896543381,2
    --49495593(+) TTTAAA/GCTGGT 1 -- int10--------
    rs1806718081,2
    --49495853(+) TTGAAA/GTTATA 1 -- int10--------
    rs1849119961,2
    --49495941(+) GAGGGC/TAGTGG 1 -- int10--------
    rs2016754421,2
    C--49496373(+) AACACG/AGCATC 2 /S /G mis11Minor allele frequency- A:0.00EU 1323
    rs1384862831,2
    C--49496413(+) GACCAC/TTGGGG 2 T I mis10--------
    rs1150484281,2
    C,F--49496453(+) AGTGAA/GACGGG 2 E syn12Minor allele frequency- G:0.01WA NA 4646
    rs1430296531,2
    --49496501(+) TTGGAA/GCCCAC 2 E syn10--------
    rs3754891051,2
    C--49496551(+) CCAGGA/GTGCTG 1 -- int10--------
    rs2001351821,2
    C--49496613(+) CTCCCC/TGCTCC 1 -- int11Minor allele frequency- T:0.00EU 1323
    rs115036161,2
    C,F--49496630(+) CTCCTC/GCTCCT 1 -- int1 trp31Minor allele frequency- G:0.00EU 1277
    rs178498811,2
    C,F--49496674(+) GGCACT/CTACCG 2 /T syn12Minor allele frequency- C:0.01CSA EU 1318
    rs1398406211,2
    C--49496695(+) CACCCG/TGAGCA 2 P syn10--------
    rs178498821,2
    C,F--49496701(+) GAGCAA/GCTCAT 2 Q syn13Minor allele frequency- G:0.01CSA NA EU 5848
    rs1439503441,2
    C--49496758(+) ACCATC/TGGCAA 2 I syn10--------
    rs2013474171,2
    --49496779(+) GACCTC/TGTGTT 2 L syn10--------
    rs111689551,2
    C,F,H--49496869(+) CTACAG/AAAATC 1 -- int117Minor allele frequency- A:0.05NS EA NA CSA WA EU 2694

    HapMap Linkage Disequilibrium report for TUBA1C (49582519 - 49667114 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TUBA1C:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv507642CNV Insertion20534489
    nsv509466CNV Insertion20534489

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TUBA1C
    DNA2.0 Custom Variant and Variant Library Synthesis for TUBA1C

    (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
    12 diseases for TUBA1C:    About MalaCards
    distal hereditary motor neuropathy, type ii    osteoblastoma    distal hereditary motor neuropathy    chondroblastoma
    endocarditis    neuropathy    parkinson's disease    hepatitis c
    gastric cancer    hepatocellular carcinoma    hepatitis    neuronitis

    1 disease from the University of Copenhagen DISEASES database for TUBA1C:
    Osteoblastoma

    TUBA1C for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): TUBA1C

    Export disorders for TUBA1C 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 TUBA1C gene, integrated from 9 sources (see all 84):
    (articles sorted by number of sources associating them with TUBA1C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    2. 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)
    3. Construction of a human full-length cDNA bank. (PubMed id 7821789)1, 3 Kato S....Aoki T. (1994)
    4. The intracellular interactome of tetraspanin-enriched microdomains reveals their function as sorting machineries toward exosomes. (PubMed id 23463506)1 Perez-Hernandez D....Yanez-Mo M. (2013)
    5. Quantitative study of the interactome of PKCz involved in the EGF-induced tumor cell chemotaxis. (PubMed id 23402259)1 Chen R....Zhang N. (2013)
    6. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    7. A regulatory circuit that involves HR23B and HDAC6 gov erns the biological response to HDAC inhibitors. (PubMed id 23703321)1 New M....La Thangue N.B. (2013)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. Protein interaction profiling of the p97 adaptor UBXD1 points to a role for the complex in modulating ERGIC-53 trafficking. (PubMed id 22337587)1 Haines D.S....Deshaies R.J. (2012)
    10. Proteomic analysis of a4b1 integrin adhesion complexes reveals a-subunit-dependent protein recruitment. (PubMed id 22623428)1 Byron A....Humphries M.J. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 84790 HGNC: 20768 AceView: TUBA6 Ensembl:ENSG00000167553 euGenes: HUgn84790
    ECgene: TUBA1C Kegg: 84790 H-InvDB: TUBA1C

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TUBA1C Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TUBA1C gene:
    Search GeneIP for patents involving TUBA1C

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



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    About This Section

     
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