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

DOK1 Gene

protein-coding   GIFtS: 64
GCID: GC02P074776

Docking Protein 1, 62kDa (Downstream Of Tyrosine Kinase...

(Previous names: docking protein 1, 62kD (downstream of tyrosine kinase 1))
  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
Docking Protein 1, 62kDa (Downstream Of Tyrosine Kinase 1)1 2     Docking Protein 1, 62kD (Downstream Of Tyrosine Kinase 1)1
Downstream Of Tyrosine Kinase 12 3     P62DOK2
p62(dok)2 3     Docking Protein 12
pp622 3     Docking Protein 1 (Downstream Of Tyrosine Kinase 1)2

External Ids:    HGNC: 29901   Entrez Gene: 17962   Ensembl: ENSG000001153257   OMIM: 6029195   UniProtKB: Q997043   

Export aliases for DOK1 gene to outside databases

Previous GC identifers: GC02P074918 GC02P074988 GC02P074733 GC02P074755 GC02P074756 GC02P074692 GC02P074518


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

Entrez Gene summary for DOK1 Gene:
The protein encoded by this gene is part of a signal transduction pathway downstream of receptor tyrosine kinases.
The encoded protein is a scaffold protein that helps form a platform for the assembly of multiprotein signaling
complexes. Two transcript variants encoding different isoforms have been found for this gene. (provided by
RefSeq, Oct 2010)

GeneCards Summary for DOK1 Gene: 
DOK1 (docking protein 1, 62kDa (downstream of tyrosine kinase 1)) is a protein-coding gene. Diseases associated with DOK1 include stomach cancer, and measles, and among its related super-pathways are Development EGFR signaling pathway and Kit Receptor Signaling Pathway. GO annotations related to this gene include phospholipid binding and insulin receptor binding. An important paralog of this gene is DOK6.

UniProtKB/Swiss-Prot: DOK1_HUMAN, Q99704
Function: DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform
for the assembly of multimolecular signaling complexes. DOK1 appears to be a negative regulator of the insulin
signaling pathway. Modulates integrin activation by competing with talin for the same binding site on ITGB3

Gene Wiki entry for DOK1 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_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DOK1 gene promoter:
         c-Fos   STAT1   AP-1   ATF-2   c-Jun   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDOK1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DOK1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DOK1


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

Entrez Gene cytogenetic band: 2p13   Ensembl cytogenetic band:  2p13.1   HGNC cytogenetic band: 2p13

DOK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DOK1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P074776:  view genomic region     (about GC identifiers)

Start:
74,776,147 bp from pter      End:
74,784,681 bp from pter
Size:
8,535 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: DOK1_HUMAN, Q99704 (See protein sequence)
Recommended Name: Docking protein 1  
Size: 481 amino acids; 52392 Da
Subunit: Interacts with ABL1 (By similarity). Interacts with RasGAP and INPP5D/SHIP1. Interacts directly with
phosphorylated ITGB3
Subcellular location: Isoform 1: Cytoplasm
Subcellular location: Isoform 3: Cytoplasm, perinuclear region
1 PDB 3D structure from and Proteopedia for DOK1:
2V76 (3D)    
Secondary accessions: O43204 Q53TY2 Q9UHG6
Alternative splicing, Alternative initiation: 3 isoforms:  Q99704-1   Q99704-2   Q99704-3   (Produced by alternative initiation at Met-140 of isoform 1. Contains a N-acetylmethionine at position 1)

Explore the universe of human proteins at neXtProt for DOK1: NX_Q99704

Explore proteomics data for DOK1 at MOPED 

Post-translational modifications:

  • UniProtKB: Constitutively tyrosine-phosphorylated. Phosphorylated by TEC (By similarity). Phosphorylated by LYN (By
    similarity)
  • UniProtKB: Phosphorylated on tyrosine residues by the insulin receptor kinase. Results in the negative regulation of the
    insulin signaling pathway
  • UniProtKB: Isoform 3 contains a N-acetylmethionine at position 1
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99704

  • DOK1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DOK1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001184189.1  NP_001372.1  

    ENSEMBL proteins: 
     ENSP00000387016   ENSP00000233668   ENSP00000344330   ENSP00000393586  
    Reactome Protein details: Q99704
    Human Recombinant Protein Products for DOK1: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DOK1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005829cytosol TAS--
    GO:0048471perinuclear region of cytoplasm IEA--

    DOK1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for DOK1 
    Cloud-Clone Corp. CLIAs for DOK1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR002404 Insln_rcpt_S1
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q99704

    ProtoNet protein and cluster: Q99704

    1 Blocks protein domain: IPB001849 Pleckstrin-like

    UniProtKB/Swiss-Prot: DOK1_HUMAN, Q99704
    Domain: The PTB domain mediates receptor interaction
    Similarity: Belongs to the DOK family. Type A subfamily
    Similarity: Contains 1 IRS-type PTB domain
    Similarity: Contains 1 PH domain


    DOK1 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: DOK1_HUMAN, Q99704
    Function: DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform
    for the assembly of multimolecular signaling complexes. DOK1 appears to be a negative regulator of the insulin
    signaling pathway. Modulates integrin activation by competing with talin for the same binding site on ITGB3

         Genatlas biochemistry entry for DOK1:
    phosphotyrosylprotein,62kDa,GAP-associated protein-kinase in chronic myelogenic leukemia progenitor cells

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005057receptor signaling protein activity IEA--
    GO:0005158insulin receptor binding IEA--
    GO:0005515protein binding IPI16273093
    GO:0005543phospholipid binding IEA--
         
    DOK1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DOK1:
     Paclitaxel antagonistic effect 

         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Dok1):
     adipose tissue  cellular  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  respiratory system  tumorigenesis 

    DOK1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for DOK1: Dok1tm1Ppp Dok1tm1Yyam

       inGenious Targeting Laboratory - Custom generated mouse model solutions for DOK1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DOK1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DOK1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DOK1 

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    hsa-miR-3128 hsa-miR-3133 hsa-miR-342-3p
    SwitchGear 3'UTR luciferase reporter plasmidDOK1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOK1


    (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 DOK1 About   (see all 18)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Development EGFR signaling pathway
    Development GDNF family signaling0.45
    GDNF-Family Ligands and Receptor Interactions0.41
    2Signaling events mediated by Stem cell factor receptor (c-Kit)
    Signaling events mediated by Stem cell factor receptor (c-Kit)0.37
    Kit Receptor Signaling Pathway0.37
    3IRS-related events
    Insulin receptor signalling cascade0.94
    IGF1R signaling cascade0.92
    IRS-related events0.94
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)0.92
    IRS-related events triggered by IGF1R0.93
    PI3K Cascade0.86
    IRS-mediated signalling0.92
    Signaling by Insulin receptor0.79
    4G-protein signaling TC21 regulation pathway
    G-protein signaling M-RAS regulation pathway0.71
    G-protein signaling TC21 regulation pathway0.71
    5IRS activation
    IRS activation0.38
    Signal attenuation0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 EMD Millipore Pathways for DOK1
        Chemotaxis CXCR4 signaling pathway
    G-protein signaling M-RAS regulation pathway
    Development GDNF family signaling
    G-protein signaling TC21 regulation pathway
    G-protein signaling H-RAS regulation pathway

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for DOK1
        Fc-Gamma-RIIB Signaling in B-Cells
    GDNF-Family Ligands and Receptor Interactions

    1 Cell Signaling Technology (CST) Pathway for DOK1
        Tyrosine Kinases / Adaptors

    5 GeneGo (Thomson Reuters) Pathways for DOK1
        G-protein signaling H-RAS regulation pathway
    G-protein signaling TC21 regulation pathway
    G-protein signaling M-RAS regulation pathway
    Development GDNF family signaling
    Chemotaxis CXCR4 signaling pathway

    5/9 BioSystems Pathways for DOK1 (see all 9)
        Kit Receptor Signaling Pathway
    B Cell Receptor Signaling Pathway
    Signaling events mediated by PTP1B
    Insulin Pathway
    Fc-epsilon receptor I signaling in mast cells

    5/11        Reactome Pathways for DOK1 (see all 11)
        PI3K Cascade
    IGF1R signaling cascade
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
    Insulin receptor signalling cascade
    IRS-related events


    1         Kegg Pathway  (Kegg details for DOK1):
        Measles


    DOK1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DOK1

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

    5/59 Interacting proteins for DOK1 (Q997041, 2, 3 ENSP000002336684) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERBB2P046262, 3, ENSP000002695714MINT-74511 MINT-74512 I2D: score=2 STRING: ENSP00000269571
    PTPN11Q061242, 3, ENSP000003409444MINT-8036392 I2D: score=1 STRING: ENSP00000340944
    SRMSQ9H3Y62MINT-8433750 MINT-8433736 MINT-8433703 MINT-8433805 MINT-8433772 MINT-8433717 MINT-8433788
    SH2D1AO608802, 3, ENSP000003601814MINT-8037441 MINT-8037456 I2D: score=4 STRING: ENSP00000360181
    ABL1P005193, ENSP000003614234I2D: score=5 STRING: ENSP00000361423
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction TAS10799545
    GO:0007166cell surface receptor signaling pathway TAS10799545
    GO:0007169transmembrane receptor protein tyrosine kinase signaling pathway TAS9008160
    GO:0007243intracellular protein kinase cascade IEA--
    GO:0007265Ras protein signal transduction IEA--

    DOK1 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

    DOK1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for DOK1

    4 Novoseek inferred chemical compound relationships for DOK1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 68.9 59 10688886 (5), 14647425 (4), 11551902 (4), 9620604 (3) (see all 25)
    phosphotyrosine 53.2 1 16177091 (1)
    phosphatidylinositol 25.5 1 10755621 (1)
    phenylalanine 19.7 2 11551902 (2)

    Search CenterWatch for drugs/clinical trials and news about DOK1

    (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 DOK1 gene (2 alternative transcripts): 
    NM_001197260.1  NM_001381.3  

    Unigene Cluster for DOK1:

    Docking protein 1, 62kDa (downstream of tyrosine kinase 1)
    Hs.103854  [show with all ESTs]
    Unigene Representative Sequence: AK055944
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409429(uc002smr.3) ENST00000485132 ENST00000233668(uc002sms.3 uc010ffo.3 uc002smt.3 uc002smu.3 uc010yrz.2 uc002smw.1)
    ENST00000488613 ENST00000340004 ENST00000489958 ENST00000482206 ENST00000474924
    ENST00000480318 ENST00000496966 ENST00000475191 ENST00000464613 ENST00000429631

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    Additional mRNA sequence: 

    AF035299.1 AF180527.1 AK055944.1 AK127127.1 AK127656.1 AK222883.1 AK296154.1 AK300097.1 
    AK314678.1 BC111055.1 BC114440.1 BC114497.1 U70987.1 

    7 DOTS entries:

    DT.100781129  DT.309002  DT.120975019  DT.95373231  DT.100781127  DT.92422050  DT.120975036 

    24/83 AceView cDNA sequences (see all 83):

    BE047000 CF126340 NM_001381 CR617916 BE392310 AU279985 AA811324 BQ006816 
    BX094686 AF180527 CA771296 CA770996 CR608499 U70987 BX486985 BX358845 
    CR595209 CR615375 BE672409 BQ006371 BM312866 AW467591 BI909382 BF512375 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for DOK1    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c
    SP1:                                                            
    SP2:                                -     -                     
    SP3:                          -                                 
    SP4:                                                            


    ECgene alternative splicing isoforms for DOK1

    (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

    DOK1 expression in normal human tissues (normalized intensities)      DOK1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTCAGAATGG
    DOK1 Expression
    About this image


    DOK1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/24 selected tissues (see all 24) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             testis ; cells in seminiferus ducts   
     
     Uterus
             cervix, uterine ; glandular cells   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             cord blood   

    See DOK1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DOK1

    SOURCE GeneReport for Unigene cluster: Hs.103854

    UniProtKB/Swiss-Prot: DOK1_HUMAN, Q99704
    Tissue specificity: Expressed in pancreas, heart, leukocyte and spleen. Expressed in both resting and activated
    peripheral blood T-cells

        SABiosciences Expression via Pathway-Focused PCR Array including DOK1: 
              Insulin Signaling Pathway in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOK1

    (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 DOK1 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dok11 , 5 docking protein 11, 5 83.61(n)1
    83.96(a)1
      6 (35.94 cM)5
    134481  NM_010070.41  NP_034200.41 
     830309345 
    chicken
    (Gallus gallus)
    Aves DOK11 docking protein 1, 62kDa (downstream of tyrosine kinase more 57.46(n)
    50.13(a)
      430423  XM_427981.3  XP_427981.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    34(a)
    possible ortholog
    GL343867.1(157196-161799)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA789095.12   -- 75.79(n)    CA789095.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dok1b1 docking protein 1b 52.38(n)
    44.24(a)
      406361  NM_213088.1  NP_998253.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dok6
    Downstream of kinase
    13(a)
    1 → many
    X(7218251-7222839)


    ENSEMBL Gene Tree for DOK1 (if available)
    TreeFam Gene Tree for DOK1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DOK1 gene
    DOK62  DOK42  DOK32  DOK22  DOK52  
    2 SIMAP similar genes for DOK1 using alignment to 4 protein entries:     DOK1_HUMAN (see all proteins):
    DOK3    DOK2

    DOK1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for DOK1
    PGOHUM00000242360


    (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

    10/61 SNPs in DOK1 are shown (see all 61)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1505781261,2
    F--74783087(+) CTCCTA/GCGTGC 4 Y C mis11Minor allele frequency- G:0.00NA 4544
    rs1395922711,2
    C--74783119(+) TGACTC/TTCCTG 4 L F mis11Minor allele frequency- T:0.00NA 4552
    rs1859261391,2
    C--74783223(+) TCCGGA/GAGGGC 2 -- int10--------
    rs1463485821,2
    --74783307(+) TTCTTG/TCCTAC 2 -- int10--------
    rs1485657941,2
    --74783308(+) TCTTGC/TCTACC 2 -- int10--------
    rs1911825071,2
    --74783454(+) CGAGGC/TCGGCC 4 A V mis10--------
    rs796648591,2
    C--74783457(+) GGCCGC/GCCGCC 4 A G mis10--------
    rs1475674501,2
    C,F--74783484(+) TGGAAC/ACTTCA 4 /N /T mis12Minor allele frequency- A:0.00NA EU 5565
    rs1995458441,2
    C--74783499(+) CCAGAA/C/TGGCAC 6 K T M mis10--------
    rs785930561,2
    C,F--74783500(+) CAGACG/AGCACA 4 /T syn12Minor allele frequency- A:0.01WA NA 4508

    HapMap Linkage Disequilibrium report for DOK1 (74776147 - 74784681 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for DOK1:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv4166n71CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602919    OMIM disorders: --

    10 diseases for DOK1:    About MalaCards
    stomach cancer    measles    chronic lymphocytic leukemia    burkitt's lymphoma
    asthma    myeloid leukemia    leukemia    ovarian cancer
    pancreatitis    neuronitis


    DOK1 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for DOK1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myeloid leukemia chronic 55.6 2 16823827 (1), 9008160 (1)
    tumors 0 1 14647425 (1)

    Genetic Association Database (GAD): DOK1
    Human Genome Epidemiology (HuGE) Navigator: DOK1 (4 documents)

    Export disorders for DOK1 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 DOK1 gene, integrated from 9 sources (see all 100):
    (articles sorted by number of sources associating them with DOK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. p62(dok): a constitutively tyrosine-phosphorylated, GAP-associated protein in chronic myelogenous leukemia progenitor cells. (PubMed id 9008160)1, 2, 3, 9 Carpino N.... Clarkson B. (1997)
    2. Insulin receptor-mediated p62dok tyrosine phosphorylation at residues 362 and 398 plays distinct roles for binding GTPase-activating protein and Nck and is essential for inhibiting insulin-stimulated activation of Ras and Akt. (PubMed id 11551902)1, 2, 9 Wick M.J.... Liu F. (2001)
    3. DOK1 mediates SHP-2 binding to the alphaVbeta3 integr in and thereby regulates insulin-like growth factor I signaling in cultured vas cular smooth muscle cells. (PubMed id 15546884)1, 3, 9 Ling Y....Clemmons D.R. (2005)
    4. Targeted mass spectrometric analysis of N-terminally truncated isoforms generated via alternative translation initiation. (PubMed id 19481542)1, 2 Kobayashi R.... Vykoukal J. (2009)
    5. An integrin phosphorylation switch: the effect of beta3 integrin tail phosphorylation on Dok1 and talin binding. (PubMed id 18156175)1, 2 Oxley C.L....Wegener K.L. (2008)
    6. 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)
    7. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (2005)
    8. Germline mutations in Dok1 do not predispose to chronic lymphocytic leukemia. (PubMed id 15541476)1, 4 Sellick G.S....Houlston R.S. (2005)
    9. 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)
    10. DOK4 and DOK5: new Dok-related genes expressed in human T cells. (PubMed id 12595900)1, 2 Favre C....Nunes J.A. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 1796 HGNC: 2990 AceView: DOK1 Ensembl:ENSG00000115325 euGenes: HUgn1796
    ECgene: DOK1 Kegg: 1796 H-InvDB: DOK1

    (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 DOK1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DOK1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DOK1 gene:
    Search GeneIP for patents involving DOK1

    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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