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

DVL1 Gene

protein-coding   GIFtS: 65
GCID: GC01M001262

dishevelled, dsh homolog 1 (Drosophila)

(Previous name: dishevelled 1 (homologous to Drosophila dsh) )
 Explore 29 diseases affiliated with
DVL1 via our new
 Human Malady Compendium 
Biological research products
for DVL1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Dishevelled, Dsh Homolog 1 (Drosophila)1 2     DVL1L12
Dishevelled 1 (Homologous To Drosophila Dsh)1 2     Dishevelled-13
DSH Homolog 12 3     Segment Polarity Protein Dishevelled Homolog DVL-12
DVL2     Dishevelled-13

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

Entrez Gene summary for DVL1:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004350.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DVL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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)
Subcellular location: 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)
Secondary accessions: Q5TA33 Q5TA35
Alternative splicing: 2 isoforms:  O14640-1   O14640-2   

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

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
  • View modification sites using PhosphoSitePlus2 (DVL1)
  • View neXtProt modification sites for NX_O14640

  • DVL1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004412.2  
    ENSEMBL proteins: 
     ENSP00000368169   ENSP00000368166  

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    Novus Biologicals DVL1 Lysates
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    Uscn Proteins for DVL1

    Gene Ontology (GO): 5/16 cellular component terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm NAS--
    GO:0005829cytosol IEA--
    GO:0005874microtubule IBA--
    GO:0005886plasma membrane ----
    GO:0005938cell cortex IBA--


    DVL1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    DVL1 for domains           About GeneDecksing

    5/9 InterPro domains/families (see all 9):
     IPR011991 WHTH_trsnscrt_rep_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 families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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)

         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

    miRNA
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    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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    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (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 IPI--
    GO:0019899enzyme binding IPI19643732


    DVL1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Dvl1tm1Awb for DVL1
         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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/22 super-pathways (see all 22About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Wnt Signaling Pathway
    Wnt Signaling Pathway1.00
    Wnt Signaling Pathway0.33
    Wnt Signaling Pathway and Pluripotency0.55
    Wnt signaling pathway0.30
    DNA damage response (only ATM dependent)0.35
    Wnt Signaling Pathway NetPath0.22
    2Translation_Non-genomic (rapid) action of Androgen Receptor
    Translation_Non-genomic (rapid) action of Androgen Receptor1.00
    Translation Non-genomic (rapid) action of Androgen Receptor0.99
    3Transcription_Androgen Receptor nuclear signaling
    Transcription_Androgen Receptor nuclear signaling1.00
    Transcription Androgen Receptor nuclear signaling0.99
    4Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency1.00
    GSK3 Signaling0.61
    5Human Embryonic Stem Cell Pluripotency
    Human Embryonic Stem Cell Pluripotency1.00
    Factors Promoting Cardiogenesis in Vertebrates0.50

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for DVL1
        Transcription Androgen Receptor nuclear signaling
    Translation Non-genomic (rapid) action of Androgen Receptor

    1 R&D Systems Pathway for DVL1
        Wnt Signaling Pathway

    5/11 Downloadable PowerPoint Slides of QIAGEN 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

    5/12 BioSystems Pathways for DVL1 (see all 12
        Wnt Signaling Pathway
    Wnt Signaling Pathway and Pluripotency
    Neural Crest Differentiation
    Adipogenesis
    DNA damage response (only ATM dependent)


    5         Kegg Pathways  (Kegg details for DVL1):
        Wnt signaling pathway
    Notch signaling pathway
    Melanogenesis
    Pathways in cancer
    Basal cell carcinoma


    DVL1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DVL1

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

    5/166 Interacting proteins for DVL1 (O146402, 3 ENSP000003681694) via UniProtKB, MINT, STRING, and/or I2D (see all 166)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APCP250542, 3, ENSP000002574304MINT-7897032 MINT-7897055 MINT-7897075 MINT-7897100 I2D: score=1 STRING: ENSP00000257430
    DAAM1Q9Y4D12, 3, ENSP000002471704MINT-8379834 MINT-8379825 I2D: score=2 STRING: ENSP00000247170
    USP13Q929952, 3MINT-65081 I2D: score=5 
    ANXA7P200732, 3MINT-8248285 I2D: score=2 
    DVL2O146412, 3, ENSP000000053404MINT-7897032 MINT-7897075 I2D: score=4 STRING: ENSP00000005340
    About this table

    Gene Ontology (GO): 5/38 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DVL1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for DVL1
    2 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about DVL1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DVL1 gene (3 alternative transcripts): 
    NM_004421.2  NM_181870.1  NM_182779.3  

    Unigene Cluster for DVL1:

    Dishevelled, dsh homolog 1 (Drosophila)
    Hs.731450  [show with all ESTs]
    Unigene Representative Sequence: NM_004421
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378891(uc009vka.3 uc001aer.4) ENST00000378888(uc002quu.3 uc001aeu.1)
    ENST00000472445

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    Additional cDNA sequence: 

    AF006011.1 AK093189.1 AK293286.1 AK300063.1 BC017225.2 BC025292.1 BC050454.1 BC111419.1 

    11 DOTS entries:

    DT.113126  DT.92435722  DT.92435732  DT.100820977  DT.100673315  DT.95199508  DT.95199483  DT.100820980 
    DT.91879999  DT.100820983  DT.100820981 

    24/204 AceView cDNA sequences (see all 204):

    CF132269 BM847934 BM847184 AL045022 AA653425 BE618057 AK093189 CD674627 
    AJ346388 BU178594 AA827635 AW262005 AI828993 BQ269582 BM713331 AA576965 
    BQ216870 AA628314 BM549186 AA993348 AX747980 CA771237 BQ063137 BM844463 

    GeneLoc Exon Structure

    5/10 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™, 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

    DVL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCCGCAGGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    DVL1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Neural TubeNeural TubeSpinal Neural Tube CellsNeural Ectoderm
    Neural TubeDiencephalonNeural Tube
    Neural TubeTelencephalonNeural Tube
    Spinal CordPresumptive Spinal CordSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See DVL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DVL1

    SOURCE GeneReport for Unigene cluster: Hs.731450
        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for DVL1 gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves DVL11 dishevelled, dsh homolog 1 (Drosophila) 74.26(n)
    83.93(a)
      419416  XM_003642523.1  XP_003642571.1 
    lizard
    (Anolis carolinensis)
    Reptilia DVL16
    --
    --
    76(a)
    36(a)
    1 ↔ 1
    possible ortholog
    GL343760.1(4475-60602)
    AAWZ02041057(3290-5409)
    zebrafish
    (Danio rerio)
    Actinopterygii dvl1b1 dishevelled, dsh homolog 1b (Drosophila) 67.27(n)
    73.79(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 domain less
    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)
    About This Section
    Paralogs for DVL1 gene
    DVL22  DVL32  
    5 SIMAP similar genes for DVL1 using alignment to 3 protein entries:     DVL1_HUMAN (see all proteins):
    DVL1L1    DKFZp586M1622    DVL3    DLG4    DVL2

    DVL1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/397 NCBI SNPs in DVL1 are shown (see all 397    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1466440701,2
    --1270217(+) CTGCCA/GACCTG 1 -- ds50010--------
    rs1413425161,2
    --1270251(+) TCCTGC/TACCCT 1 -- ds50010--------
    rs1438148111,2
    --1270253(+) CTGCAC/TCCTGC 1 -- ds50010--------
    rs1886471,2
    C,--1270329(+) GAGGTG/AGGGGT 1 -- ds50017Minor allele frequency- A:0.00NA WA CSA 14
    rs3073741,2
    C,--1270359(+) TGCCCC/TTTGCC 1 -- ds50019Minor allele frequency- T:0.01MN NA WA CSA 199
    rs114887011,2
    --1270453(+) AGCACT/CGACCA 1 -- ds50011Minor allele frequency- C:0.00NA 2
    rs1897250061,2
    --1270509(+) GATCTG/TACGCC 1 -- ds50010--------
    rs1381403231,2
    --1270629(+) CAGCCA/GGAGAG 1 -- ds50010--------
    rs1924392611,2
    --1270651(+) GCCACA/GCATCT 1 -- ds50010--------
    rs1837305921,2
    --1270737(+) TAAACA/GCTGGG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for DVL1 (1270656 - 1284730 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for DVL1
         3 CNVs: 0001 3275 30362

    SABiosciences Cancer Mutation PCR Assays
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    WNT Signaling
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    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.)
    About This Section

    DVL1 for disorders           About GeneDecksing

    OMIM gene information: 601365    OMIM disorders: --

    20/29 diseases for DVL1 (see all 29):    About MalaCards
    charcot-marie-tooth disease    charcot-marie-tooth disease type 2    charcot-marie-tooth disease type 2a    schwartz-jampel syndrome
    tooth disease    double outlet right ventricle    dentatorubral-pallidoluysian atrophy    familial adenomatous polyposis
    neural tube defect    adenomatous polyposis coli    cervical squamous cell carcinoma    squamous cell carcinoma
    polyposis    basal cell carcinoma    digeorge syndrome    nephronophthisis
    cervicitis    breast cancer    colon carcinoma    carcinoma

    5 Novoseek 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)
    About This Section

    PubMed articles for DVL1 gene, integrated from 9 sources (see all 105):
    (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. (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. (2001)
    3. 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. (2005)
    4. Mammalian Ryk is a Wnt coreceptor required for stimulation of neurite outgrowth. (PubMed id 15454084)1, 2 Lu W....Baltimore D. (2004)
    5. Identification and characterization of a novel Dvl-binding protein that suppresses Wnt signalling pathway. (PubMed id 14750955)1, 2 Oshita A.... Kikuchi A. (2003)
    6. Human dishevelled genes constitute a DHR-containing multigene family. (PubMed id 9192851)1, 2 Semenov M.V. and Snyder M. (1997)
    7. cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene. (PubMed id 8817329)1, 3 Pizzuti A.... Dallapiccola B. (1996)
    8. Differential mediation of the Wnt canonical pathway by mammalian Dishevelleds-1, -2, and -3. (PubMed id 18093802)1, 9 Lee Y.N....Wang H.Y. (2008)
    9. Upregulation and overexpression of DVL1, the human counterpart of the Drosophila dishevelled gene, in prostate cancer. (PubMed id 16457155)1, 9 Mizutani K....Onda M. (2005)
    10. Casein kinase I epsilon enhances the binding of Dvl-1 to Frat-1 and is essential for Wnt-3a-induced accumulation of beta-catenin. (PubMed id 12556519)1, 9 Hino S.... Kikuchi 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: 1855 HGNC: 3084 AceView: DVL1 Ensembl:ENSG00000107404 euGenes: HUgn1855
    ECgene: DVL1 Kegg: 1855 H-InvDB: DVL1

    (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 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
    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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