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DVL1 Gene

protein-coding   GIFtS: 65
GCID: GC01M001262

Dishevelled Segment Polarity Protein 1

(Previous names: dishevelled 1 (homologous to Drosophila dsh), dishevelled,...)
  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)
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Aliases
Dishevelled Segment Polarity Protein 11 2     DVL1P12
Dishevelled 1 (Homologous To Drosophila Dsh)1 2     Dishevelled, Dsh Homolog 12
DSH Homolog 12 3     dishevelled-12
Dishevelled, Dsh Homolog 1 (Drosophila)1     Segment Polarity Protein Dishevelled Homolog DVL-12
DVL2     Dishevelled-13
DVL1L12     

External Ids:    HGNC: 30841   Entrez Gene: 18552   Ensembl: ENSG000001074047   OMIM: 6013655   UniProtKB: O146403   

Export aliases for DVL1 gene to outside databases

Previous GC identifers: GC01M000796 GC01M001021 GC01M001147 GC01M001177 GC01M001178 GC01M001311 GC01M001261


(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 DVL1 Gene:
DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that
regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation
and neuroblast specification. DVL1 is a candidate gene for neuroblastomatous transformation. The Schwartz-Jampel
syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of
these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene
during development. (provided by RefSeq, Jul 2008)

GeneCards Summary for DVL1 Gene:
DVL1 (dishevelled segment polarity protein 1) is a protein-coding gene. Diseases associated with DVL1 include charcot-marie-tooth disease type 2a, and dentatorubral-pallidoluysian atrophy. GO annotations related to this gene include identical protein binding and signal transducer activity. An important paralog of this gene is DVL2.

UniProtKB/Swiss-Prot: DVL1_HUMAN, O14640
Function: Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and
transducing the Wnt signal to down-stream effectors. Plays a role both in canonical and non-canonical Wnt
signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Required for LEF1
activation upon WNT1 and WNT3A signaling. DVL1 and PAK1 form a ternary complex with MUSK which is important for
MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ)

Gene Wiki entry for DVL1 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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Regulatory elements:
   Regulatory transcription factor binding sites in the DVL1 gene promoter:
         HNF-4alpha2   HNF-4alpha1   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDVL1 promoter sequence
   Search Chromatin IP Primers for DVL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DVL1


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

Entrez Gene cytogenetic band: 1p36   Ensembl cytogenetic band:  1p36.33   HGNC cytogenetic band: 1p36

DVL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DVL1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M001262:  view genomic region     (about GC identifiers)

Start:
1,270,656 bp from pter      End:
1,284,730 bp from pter
Size:
14,075 bases      Orientation:
minus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DVL1_HUMAN, O14640 (See protein sequence)
Recommended Name: Segment polarity protein dishevelled homolog DVL-1  
Size: 695 amino acids; 75187 Da
Subunit: Interacts with CXXC4. Interacts (via PDZ domain) with NXN (By similarity). Interacts with BRD7 and INVS.
Interacts through its PDZ domain with the C-terminal regions of VANGL1, VANGL2 and CCDC88C/DAPLE. Interacts with
ARRB1; the interaction is enhanced by phosphorylation of DVL1. Interacts with CYLD (By similarity). Interacts
(via PDZ domain) with RYK. Self-associates (via DIX domain) and forms higher homooligomers. Interacts (via PDZ
domain) with DACT1 and FZD7, where DACT1 and FZD7 compete for the same binding site (By similarity). Interacts
(via DEP domain) with MUSK; the interaction is direct and mediates the formation a DVL1, MUSK and PAK1 ternary
complex involved in AChR clustering (By similarity). Interacts (via PDZ domain) with TMEM88
Secondary accessions: Q5TA33 Q5TA35
Alternative splicing: 2 isoforms:  O14640-1   O14640-2   

Explore the universe of human proteins at neXtProt for DVL1: NX_O14640

Explore proteomics data for DVL1 at MOPED

Post-translational modifications: 

  • Ubiquitinated; undergoes both 'Lys-48'-linked ubiquitination, leading to its subsequent degradation by the
    ubiquitin-proteasome pathway, and 'Lys-63'-linked ubiquitination. The interaction with INVS is required for
    ubiquitination. Deubiquitinated by CYLD, which acts on 'Lys-63'-linked ubiquitin chains (By similarity)1
  • Ubiquitination2 at Lys285
  • Modification sites at PhosphoSitePlus (DVL1)

  • See DVL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004412.2  
    ENSEMBL proteins: 
     ENSP00000368169   ENSP00000368166  
    Reactome Protein details: O14640

    DVL1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for DVL1
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    Novus Biologicals DVL1 Proteins
    Novus Biologicals DVL1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DVL1

    DVL1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of DVL1
    R&D Systems Antibodies for DVL1 (Dishevelled-1)
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    Novus Biologicals DVL1 Antibodies
    Abcam antibodies for DVL1
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    ThermoFisher Antibodies for DVL1
    LSBio Antibodies in human, mouse, rat for DVL1

    DVL1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for DVL1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DVL1
    Cloud-Clone Corp. CLIAs for DVL1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    DVL: Dishevelled homologs

    Selected InterPro protein domains (see all 9):
     IPR011991 WHTH_DNA-bd_dom
     IPR001478 PDZ
     IPR024580 Dishevelled_C-dom
     IPR008340 Dishevelled_1
     IPR015506 Dsh/Dvl-rel

    Graphical View of Domain Structure for InterPro Entry O14640

    ProtoNet protein and cluster: O14640

    4 Blocks protein domains:
    IPB000591 Pleckstrin putative G-protein interacting domain
    IPB001478 PDZ/DHR/GLGF domain
    IPB003351 Dishevelled protein
    IPB008339 Dishevelled protein signature


    UniProtKB/Swiss-Prot: DVL1_HUMAN, O14640
    Domain: The DIX domain promotes homooligomerization (By similarity)
    Domain: The DEP domain mediates interaction with the cell membrane (By similarity)
    Similarity: Belongs to the DSH family
    Similarity: Contains 1 DEP domain
    Similarity: Contains 1 DIX domain
    Similarity: Contains 1 PDZ (DHR) domain


    DVL1 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DVL1_HUMAN, O14640
    Function: Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and
    transducing the Wnt signal to down-stream effectors. Plays a role both in canonical and non-canonical Wnt
    signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Required for LEF1
    activation upon WNT1 and WNT3A signaling. DVL1 and PAK1 form a ternary complex with MUSK which is important for
    MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ)

         Genatlas biochemistry entry for DVL1:
    Drosophila dishevelled segment polarity gene homolog 1,widely expressed,putatively involved in neural and heart
    development,activated in WNT signal transduction,frequently but not always deleted in the 1PDEL syndrome,most
    likely not contributing to the syndrome

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0004871signal transducer activity IEA--
    GO:0005109frizzled binding IPI19388021
    GO:0005515protein binding IPI10330181
    GO:0019899enzyme binding IPI15454084
         
    DVL1 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Dvl1):
     behavior/neurological  cardiovascular system  embryogenesis  hearing/vestibular/ear  mortality/aging 
     nervous system  normal  skeleton 

    DVL1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dvl1tm1Awb for DVL1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DVL1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DVL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DVL1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DVL1

    miRNA
    Products:
        
    miRTarBase miRNAs that target DVL1:
    hsa-mir-378a-3p (MIRT043927), hsa-mir-10a-5p (MIRT047691), hsa-mir-744-5p (MIRT037606)

    Block miRNA regulation of human, mouse, rat DVL1 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate DVL1:
    hsa-miR-3163 hsa-miR-466 hsa-miR-4255 hsa-miR-139-5p hsa-miR-4282 hsa-miR-3941 hsa-miR-646
    SwitchGear 3'UTR luciferase reporter plasmidDVL1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DVL1
    Predesigned siRNA for gene silencing in human, mouse, rat DVL1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DVL1

    Clone
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    OriGene clones in human, mouse for DVL1 (see all 12)
    OriGene ORF clones in mouse, rat for DVL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DVL1 (NM_004421)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DVL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DVL1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for DVL1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DVL1


    (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
    DVL1_HUMAN, O14640: Cell membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Cytoplasm,
    cytosol (By similarity). Cytoplasmic vesicle (By similarity). Note=Localizes at the cell membrane upon
    interaction with frizzled family members (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton3
    cytosol3
    nucleus3

    Gene Ontology (GO): Selected cellular component terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm IEA--
    GO:0005829cytosol IEA--
    GO:0005874microtubule IBA--
    GO:0005938cell cortex IBA--

    DVL1 for ontologies           About GeneDecksing


    (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 DVL1 About   (see all 28)  
    See pathways by source

    SuperPathContained pathways About
    1Wnt signaling pathway (KEGG)
    Wnt signaling pathway0.40
    Wnt Signaling Pathway NetPath0.37
    Wnt Signaling Pathways0.40
    2Notch signaling pathway (KEGG)
    Notch signaling pathway0.84
    Notch Signaling Pathway0.84
    3Wnt Signaling Pathway (WikiPathways)
    Wnt Signaling Pathway0.55
    DNA damage response (only ATM dependent)0.32
    Wnt Signaling Pathway and Pluripotency0.55
    4beta-catenin independent WNT signaling
    beta-catenin independent WNT signaling0.79
    Signaling by Wnt0.79
    5Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency0.61
    GSK3 Signaling0.61

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for DVL1
        Wnt Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for DVL1 (see all 11)
        Factors Promoting Cardiogenesis in Vertebrates
    Molecular Mechanisms of Cancer
    G12-G13 in Cellular Signaling
    Colorectal Cancer Metastasis
    Reelin Pathway (Cajal-Retzius cells)

    2 GeneGo (Thomson Reuters) Pathways for DVL1
        Transcription Androgen Receptor nuclear signaling
    Translation Non-genomic (rapid) action of Androgen Receptor

    Selected BioSystems Pathways for DVL1 (see all 13)
        MicroRNAs in cardiomyocyte hypertrophy
    Wnt Signaling Pathway
    Adipogenesis
    Wnt Signaling Pathway and Pluripotency
    DNA damage response (only ATM dependent)

    5 Reactome Pathways for DVL1
        degradation of DVL
    WNT mediated activation of DVL
    disassembly of the destruction complex and recruitment of AXIN to the membrane
    PCP/CE pathway
    TCF dependent signaling in response to WNT


    Selected Kegg Pathways  (Kegg details for DVL1) (see all 7):
        Wnt signaling pathway
    Notch signaling pathway
    Hippo signaling pathway
    Melanogenesis
    HTLV-I infection


    DVL1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DVL1: 
              Primary Cilia in human mouse rat
              WNT Signaling Pathway in human mouse rat
              Notch Signaling Pathway in human mouse rat
              Stem Cells in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DVL1

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

    Selected Interacting proteins for DVL1 (O146401, 2, 3 ENSP000003681694) via UniProtKB, MINT, STRING, and/or I2D (see all 323)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APCP250541, 2, 3, ENSP000002574304EBI-723489,EBI-727707 MINT-7897032 MINT-7897055 MINT-7897075 MINT-7897100 I2D: score=1 STRING: ENSP00000257430
    DAAM1Q9Y4D12, 3, ENSP000002471704MINT-8379834 MINT-8379825 I2D: score=2 STRING: ENSP00000247170
    TFDP1Q141861, 2EBI-723489,EBI-749713 MINT-8404114 MINT-8404100 MINT-8404082
    USP13Q929952, 3MINT-65081 I2D: score=5 
    ANXA7P200732, 3MINT-8248285 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 38):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001505regulation of neurotransmitter levels ISS--
    GO:0001932regulation of protein phosphorylation ----
    GO:0001933negative regulation of protein phosphorylation ----
    GO:0006366transcription from RNA polymerase II promoter IDA11742073
    GO:0006469negative regulation of protein kinase activity IDA10330181

    DVL1 for ontologies           About GeneDecksing



    (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 

    Browse Tocris compounds for DVL1

    2 Novoseek inferred chemical compound relationships for DVL1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen 62 6 10617280 (1), 10944533 (1), 10647780 (1), 11742073 (1) (see all 5)
    h2o2 0 1 15279902 (1)



    DVL1 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DVL1 gene (3 alternative transcripts): 
    NM_004421.2  NM_181870.1  NM_182779.3  

    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378891(uc009vka.3 uc001aer.4) ENST00000378888(uc002quu.3 uc001aeu.1)
    ENST00000472445
    miRNA
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    7 qRT-PCR Assays for microRNAs that regulate DVL1:
    hsa-miR-3163 hsa-miR-466 hsa-miR-4255 hsa-miR-139-5p hsa-miR-4282 hsa-miR-3941 hsa-miR-646
    SwitchGear 3'UTR luciferase reporter plasmidDVL1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DVL1
    Clone
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    GenScript: all cDNA clones in your preferred vector: DVL1 (NM_004421)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DVL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DVL1
    Primer
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    OriGene qPCR primer pairs and template standards for DVL1
    OriGene qSTAR qPCR primer pairs in human, mouse for DVL1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DVL1
      QuantiTect SYBR Green Assays in human, mouse, rat DVL1
      QuantiFast Probe-based Assays in human, mouse, rat DVL1

    Selected AceView cDNA sequences (see all 204):

    AI828993 BU181644 AJ346388 AA993348 BQ083047 NM_181870 CD674627 AI567536 
    AA576965 BM544722 AA653425 AL045022 BM847184 AI624002 BM549186 BE502662 
    AK093189 BM844463 AA628314 BC017225 BQ269582 CR616573 BE618057 AA693493 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DVL1 (see all 10)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^
    SP1:                                                  -                                                           -     -                                   -   
    SP2:                                                  -                                                                                                         
    SP3:                                                                                                                                                        -   
    SP4:                                                  -                                                                                                         
    SP5:                                            -     -     -     -     -     -     -     -     -     -     -     -     -     -     -                       -   

    ExUns: 16 ^ 17a · 17b
    SP1:  -               
    SP2:                  
    SP3:  -               
    SP4:                  
    SP5:  -               


    ECgene alternative splicing isoforms for DVL1

    (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)
    About This Section

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    DVL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCCGCAGGG
    DVL1 Expression
    About this image


    DVL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    DVL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DVL1 Protein Expression
        Pathway & Disease-focused RT2 Profiler PCR Arrays including DVL1: 
              Primary Cilia in human mouse rat
              WNT Signaling Pathway in human mouse rat
              Notch Signaling Pathway in human mouse rat
              Stem Cells in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for DVL1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dvl11 , 5 dishevelled, dsh homolog 1 (Drosophila)1, 5 87.29(n)1
    94.92(a)1
      4 (87.61 cM)5
    135421  NM_010091.31  NP_034221.31 
     1558474025 
    chicken
    (Gallus gallus)
    Aves DVL11 dishevelled, dsh homolog 1 (Drosophila) 73.72(n)
    82.95(a)
      419416  XM_004947409.1  XP_004947466.1 
    lizard
    (Anolis carolinensis)
    Reptilia DVL16
    dishevelled segment polarity protein 1
    77(a)
    1 ↔ 1
    GL343760.1(4475-60602)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia dvl11 dishevelled segment polarity protein 1 73.46(n)
    86.24(a)
      100144639  NM_001123414.1  NP_001116886.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dvl1b1 dishevelled, dsh homolog 1b (Drosophila) 67.23(n)
    72.94(a)
      560032  NM_001044917.1  NP_001038382.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta dsh3 cell motility Notch binding 64(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea T05C12.6c3 presynaptic density protein (PSD-95)
    repeat-like more
    29(a)   II(8182431-8184930)   --


    ENSEMBL Gene Tree for DVL1 (if available)
    TreeFam Gene Tree for DVL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DVL1 gene
    DVL22  DVL32  DIXDC12  
    5 SIMAP similar genes for DVL1 using alignment to 3 protein entries:     DVL1_HUMAN (see all proteins):
    DVL1P1    DVL3    DKFZp586M1622    DLG4    DVL2

    DVL1 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), 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 DVL1 (see all 584)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs359157031,2
    C,F--1269467(-) TGCCCG/CGTCCA 1 -- us2k11Minor allele frequency- C:0.00NA 2
    rs1929109401,2
    --1269507(+) TGGACC/GGGGCA 1 -- us2k10--------
    rs1845718091,2
    --1269520(+) AGCGAC/TGGGGG 1 -- us2k10--------
    rs1134883431,2
    F--1269552(+) GGGGCT/AGGAGC 1 -- us2k11Minor allele frequency- A:0.00CSA 1
    rs1807387811,2
    --1269559(+) GAGCGA/GCGGGG 1 -- us2k10--------
    rs351048451,2
    C,F--1269560(-) CCCCCA/GTCGCT 1 -- us2k12Minor allele frequency- G:0.00NA 4
    rs617662141,2
    C--1269587(+) TGGACC/GGGGCT 1 -- us2k14Minor allele frequency- G:0.00NA 8
    rs343800861,2
    C--1269663(-) GATGCG/CAGTTC 1 -- us2k111Minor allele frequency- C:0.16NA WA CSA EA 373
    rs3073791,2
    C--1269733(+) GCACCG/AGTGCT 1 -- us2k110Minor allele frequency- A:0.27NA EA WA CSA 265
    rs1443052731,2
    --1269777(+) GCACCC/GGGGCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for DVL1 (1270656 - 1284730 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DVL1 (see all 26):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2746363CNV Deletion23290073
    dgv17n71CNV Loss21882294
    nsv470680CNV Loss18288195
    nsv870639CNV Loss21882294
    dgv29n71CNV Loss21882294
    nsv482937CNV Loss15286789
    dgv39n71CNV Loss21882294
    dgv12n71CNV Loss21882294
    dgv25n71CNV Loss21882294
    dgv19n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): DVL1
    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing DVL1:
    WNT Signaling
    SeqTarget long-range PCR primers for resequencing DVL1
    DNA2.0 Custom Variant and Variant Library Synthesis for DVL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601365    OMIM disorders: --

    Selected diseases for DVL1 (see all 28):    
    About MalaCards
    charcot-marie-tooth disease type 2a    dentatorubral-pallidoluysian atrophy    charcot-marie-tooth disease type 2    tooth disease
    charcot-marie-tooth disease    nephronophthisis    familial adenomatous polyposis    cervical squamous cell carcinoma
    digeorge syndrome    neural tube defects    conjunctivitis    basal cell carcinoma
    cervicitis    astrocytoma    osteosarcoma    cervical cancer
    tonsillitis    colorectal cancer    cerebritis    squamous cell carcinoma


    DVL1 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for DVL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    familial adenomatous polyposis 71.7 6 10617280 (1), 11818547 (1), 10944533 (1), 18662704 (1) (see all 5)
    cancer 25.8 2 12824876 (1), 12883684 (1)
    tumors 13.8 2 19576519 (1), 12824876 (1)
    cervical cancer 9.73 1 16457155 (1)
    breast cancer 0 2 12824876 (2)

    Genetic Association Database (GAD): DVL1
    Human Genome Epidemiology (HuGE) Navigator: DVL1 (4 documents)

    Export disorders for DVL1 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 DVL1 gene, integrated from 10 sources (see all 109):
    (articles sorted by number of sources associating them with DVL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of genomic organisation, sequence variants and analysis of the role of the human dishevelled 1 gene in late onset Alzheimer's disease. (PubMed id 11803455)1, 4, 9 Russ C....Powell J.F. (Mol. Psychiatry 2002)
    2. beta-Arrestin1 modulates lymphoid enhancer factor transcriptional activity through interaction with phosphorylated dishevelled proteins. (PubMed id 11742073)1, 2, 9 Chen W.... Miller W.E. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    3. Identification of transmembrane protein 88 (TMEM88) as a dishevelled-binding protein. (PubMed id 21044957)1, 2 Lee H.J....Zheng J.J. (J. Biol. Chem. 2010)
    4. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    5. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    6. Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways. (PubMed id 15852005)1, 2 Simons M.... Walz G. (Nat. Genet. 2005)
    7. Mammalian Ryk is a Wnt coreceptor required for stimulation of neurite outgrowth. (PubMed id 15454084)1, 2 Lu W.... Baltimore D. (Cell 2004)
    8. Identification and characterization of a novel Dvl-binding protein that suppresses Wnt signalling pathway. (PubMed id 14750955)1, 2 Oshita A.... Kikuchi A. (Genes Cells 2003)
    9. Human dishevelled genes constitute a DHR-containing multigene family. (PubMed id 9192851)1, 2 Semenov M.V. and Snyder M. (Genomics 1997)
    10. cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene. (PubMed id 8817329)1, 3 Pizzuti A.... Dallapiccola B. (Hum. Mol. Genet. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 1855 HGNC: 3084 AceView: DVL1 Ensembl:ENSG00000107404 euGenes: HUgn1855
    ECgene: DVL1 Kegg: 1855 H-InvDB: DVL1

    (According to HUGE)
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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 DVL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DVL1 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

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    Patent Information for DVL1 gene:
    Search GeneIP for patents involving DVL1

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



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