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

TBCK Gene

protein-coding   GIFtS: 47
GCID: GC04M106967

TBC1 Domain Containing Kinase

  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
TBC1 Domain Containing Kinase1 2
TBCKL2 3
TBC Domain-Containing Protein Kinase-Like Protein2

External Ids:    HGNC: 282611   Entrez Gene: 936272   Ensembl: ENSG000001453487   UniProtKB: Q8TEA73   

Export aliases for TBCK gene to outside databases

Previous GC identifer: GC04M102701


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

GeneCards Summary for TBCK Gene: 
TBCK (TBC1 domain containing kinase) is a protein-coding gene. Diseases associated with TBCK include alcohol dependence, and alcoholism. GO annotations related to this gene include Rab GTPase activator activity and protein kinase activity.


(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_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for TBCK
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for TBCK

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


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

Entrez Gene cytogenetic band: 4q24   Ensembl cytogenetic band:  4q24   HGNC cytogenetic band: 4q24

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

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M106967:  view genomic region     (about GC identifiers)

Start:
106,965,474 bp from pter      End:
107,242,652 bp from pter
Size:
277,179 bases      Orientation:
minus 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: TBCK_HUMAN, Q8TEA7 (See protein sequence)
Recommended Name: TBC domain-containing protein kinase-like protein  
Size: 893 amino acids; 100679 Da
Sequence caution: Sequence=AAF28980.1; Type=Frameshift; Positions=507, 516, 660, 665, 672; Sequence=BAC05244.1;
Type=Miscellaneous discrepancy; Note=intron retention;
Secondary accessions: B9A6J1 Q4W5B3 Q4W5E1 Q6NUP4 Q8N7M8 Q8WW57 Q96GV6 Q9P080
Alternative splicing: 3 isoforms:  Q8TEA7-1   Q8TEA7-2   Q8TEA7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TBCK: NX_Q8TEA7

Explore proteomics data for TBCK at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8TEA7

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

    TBCK Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001156907.1  NP_001156908.1  NP_001156909.1  NP_149106.2  

    ENSEMBL proteins: 
     ENSP00000273980   ENSP00000355338   ENSP00000378196   ENSP00000421182   ENSP00000378198  
     ENSP00000422160   ENSP00000423834   ENSP00000426093   ENSP00000423092   ENSP00000420985  
     ENSP00000425197   ENSP00000423637   ENSP00000405847  

    Human Recombinant Protein Products for TBCK: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TBCK 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----

    TBCK 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
    IUPHAR Guide to PHARMACOLOGY protein family classification: TBC1 domain containing kinase 
    TBCK family

    4 InterPro protein domains:
     IPR001763 Rhodanese-like_dom
     IPR000195 Rab-GTPase-TBC_dom
     IPR011009 Kinase-like_dom
     IPR000719 Prot_kinase_cat_dom

    Graphical View of Domain Structure for InterPro Entry Q8TEA7

    ProtoNet protein and cluster: Q8TEA7

    2 Blocks protein domains:
    IPB000195 RabGAP/TBC domain
    IPB001763 Rhodanese-like


    UniProtKB/Swiss-Prot: TBCK_HUMAN, Q8TEA7
    Domain: The protein kinase domain is predicted to be catalytically inactive
    Similarity: Belongs to the protein kinase superfamily
    Similarity: Contains 1 protein kinase domain
    Similarity: Contains 1 Rab-GAP TBC domain
    Similarity: Contains 1 rhodanese domain


    TBCK 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity RCA12471243
    GO:0004713protein tyrosine kinase activity ----
    GO:0005097Rab GTPase activator activity IEA--
    GO:0005524ATP binding RCA12471243
    GO:0016772transferase activity, transferring phosphorus-containing groups ----
         
    TBCK for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TBCK:
     Decreased nuclei size in G2M 

    Animal Models:
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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



    Interactions:

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

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468NOT protein phosphorylation RCA12471243
    GO:0032313regulation of Rab GTPase activity ----

    TBCK 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

    Browse Tocris compounds for TBCK

    Search CenterWatch for drugs/clinical trials and news about TBCK

    (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

    REFSEQ mRNAs for TBCK gene (4 alternative transcripts): 
    NM_001163435.1  NM_001163436.1  NM_001163437.1  NM_033115.3  

    Unigene Cluster for TBCK:

    TBC1 domain containing kinase
    Hs.292986  [show with all ESTs]
    Unigene Representative Sequence: BX647851
    18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000273980 ENST00000510927(uc003hyb.2) ENST00000361687(uc003hyc.2)
    ENST00000394706(uc003hye.2) ENST00000467183(uc010ilv.2 uc003hyd.2)
    ENST00000394708 ENST00000514689 ENST00000515705 ENST00000506384 ENST00000511011
    ENST00000506615 ENST00000508666 ENST00000503516 ENST00000505574 ENST00000503832
    ENST00000506280 ENST00000509532 ENST00000509862
    miRNA
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate TBCK:
    hsa-miR-4291 hsa-miR-34c-5p hsa-miR-449b hsa-miR-526b hsa-miR-3942-5p hsa-miR-449a hsa-miR-34a hsa-miR-1208
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
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    Additional mRNA sequence: 

    AB449876.1 AF161420.1 AK074305.1 AK098157.1 AK315571.1 BC009208.2 BC020853.2 BC068496.1 
    BX647851.1 

    19 DOTS entries:

    DT.414340  DT.99980522  DT.97858376  DT.92061166  DT.97763994  DT.121258677  DT.100776500  DT.95228097 
    DT.108438  DT.121258697  DT.95175678  DT.121258768  DT.40229008  DT.444201  DT.91694314  DT.92421351 
    DT.97763840  DT.121258672  DT.121258696 

    24/135 AceView cDNA sequences (see all 135):

    BE513284 AA922021 BE670030 CB992214 NM_033115 BC068496 Z44727 CA432811 
    AA702160 BF432144 AI025923 AI457618 AI239417 BP366532 BP377619 BC009208 
    AI253245 BG741592 AI248799 AI633963 BU625385 CR608976 AK074305 BU192178 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for TBCK    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
    SP1:                                      -     -                     
    SP2:                                                                  
    SP3:                                                                  


    ECgene alternative splicing isoforms for TBCK

    (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

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


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

    SOURCE GeneReport for Unigene cluster: Hs.292986
        SABiosciences Custom PCR Arrays for TBCK
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBCK

    (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 TBCK gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbck1 , 5 TBC1 domain containing kinase1, 5 89.14(n)1
    95.41(a)1
      3 (61.49 cM)5
    2719811  NM_001163455.11  NP_001156927.11 
     1326841445 
    chicken
    (Gallus gallus)
    Aves TBCK1 TBC1 domain containing kinase 79.25(n)
    87.23(a)
      422534  NM_001012577.1  NP_001012595.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    94(a)
    87(a)
    many → 1
    many → 1
    GL343384.1(996761-1000854)
    GL343375.1(21921-122209)
    zebrafish
    (Danio rerio)
    Actinopterygii tbck1 TBC1 domain containing kinase 69.17(n)
    76.71(a)
      791155  NM_001080637.2  NP_001074106.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG40411 CG4041 49.29(n)
    47.88(a)
      31422  NM_131969.4  NP_572197.4 
    worm
    (Caenorhabditis elegans)
    Secernentea tbck-11 Protein TBCK-1 45.02(n)
    34.49(a)
      173832  NM_062465.3  NP_494866.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TBCK gene
    5 SIMAP similar genes for TBCK using alignment to 8 protein entries:     TBCK_HUMAN (see all proteins):
    DKFZp313C1916    STK25    CDK10    MARK4    NUAK1

    TBCK 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4429 SNPs in TBCK are shown (see all 4429)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0413874
    A head & Neck squamous cell carcinoma sample4--see VAR_0413872 I V mis40--------
    VAR_0413854
    A colorectal adenocarcinoma sample4--see VAR_0413852 R I mis40--------
    VAR_0413824
    ----see VAR_0413822 D N mis40--------
    VAR_0413814
    ----see VAR_0413812 I M mis40--------
    VAR_0301234
    ----see VAR_0301232 Q E mis40--------
    VAR_0413804
    ----see VAR_0413802 R L mis40--------
    VAR_0413864
    ----see VAR_0413862 R C mis40--------
    rs1837129481,2
    --106768755(+) CCCTCC/TTTCTT 4 -- ds50010--------
    rs1896492631,2
    --106768921(+) TTAATC/GATCAG 4 -- ds50010--------
    rs1463150191,2
    --106768934(+) AACCAA/GTAGAC 4 -- ds50010--------

    HapMap Linkage Disequilibrium report for TBCK (106965474 - 107215474 bp, first 250kb of TBCK)

    Structural Variations
         Database of Genomic Variants (DGV) 10/26 variations for TBCK (see all 26):    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv966e199CNV Deletion23128226
    esv3779CNV Deletion18987735
    esv2728105CNV Deletion23290073
    esv2659170CNV Deletion23128226
    nsv820470CNV Deletion20802225
    esv2525124CNV Deletion19546169
    esv268595CNV Insertion20981092
    nsv514239CNV Loss21397061
    dgv890n67CNV Loss20364138
    nsv4450CNV Loss18451855

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    (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
    2 diseases for TBCK:    About MalaCards
    alcohol dependence    alcoholism


    TBCK for disorders           About GeneDecksing

    Genetic Association Database (GAD): TBCK
    Human Genome Epidemiology (HuGE) Navigator: TBCK (1 document)

    Export disorders for TBCK 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 TBCK gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with TBCK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The protein kinase complement of the human genome. (PubMed id 12471243)1, 2, 3 Manning G.... Sudarsanam S. (2002)
    2. A systematic gene-based screen of chr4q22-q32 identif ies association of a novel susceptibility gene, DKK2, with the quantitative tra it of alcohol dependence symptom counts. (PubMed id 20332099)1, 4 Kalsi G....Riley B.P. (2010)
    3. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PubMed id 19077034)1, 2 Ishibashi K.... Fukuda M. (2009)
    4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. (PubMed id 22837378)1 Wilk J.B....Stricker B.H. (2012)
    9. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    10. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 93627 HGNC: 28261 AceView: MGC16169 Ensembl:ENSG00000145348 euGenes: HUgn93627
    ECgene: TBCK H-InvDB: TBCK

    (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 TBCK 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 TBCK gene:
    Search GeneIP for patents involving TBCK

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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