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    DVL1 dishevelled segment polarity protein 1 [ Homo sapiens (human) ]

    Gene ID: 1855, updated on 7-Feb-2016
    Official Symbol
    DVL1provided by HGNC
    Official Full Name
    dishevelled segment polarity protein 1provided by HGNC
    Primary source
    HGNC:HGNC:3084
    See related
    Ensembl:ENSG00000107404; HPRD:03220; MIM:601365; Vega:OTTHUMG00000003069
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DVL; DRS2; DVL1L1; DVL1P1
    Summary
    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]
    Orthologs
    See DVL1 in Epigenomics, MapViewer
    Location:
    1p36
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (1335278..1349158, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1270658..1284509, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene cleavage and polyadenylation specific factor 3-like Neighboring gene microRNA 6727 Neighboring gene ceramide-1-phosphate transfer protein Neighboring gene taste 1 receptor member 3 Neighboring gene microRNA 6808 Neighboring gene matrix-remodelling associated 8 Neighboring gene aurora kinase A interacting protein 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Replication interactions

    Interaction Pubs
    Knockdown of dishevelled, dsh homolog 1 (DVL1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

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    • Degradation of DVL, organism-specific biosystem (from REACTOME)
      Degradation of DVL, organism-specific biosystemDVL protein levels are regulated by both proteasomal and lysosomal degradation (reviewed in Gao and Chen, 2010). The E3 ligases HECF1, ITCH and KLHL12:CUL3 have all been shown to contribute to the po...
    • Disassembly of the destruction complex and recruitment of AXIN to the membrane, organism-specific biosystem (from REACTOME)
      Disassembly of the destruction complex and recruitment of AXIN to the membrane, organism-specific biosystemUpon stimulation with WNT ligand, AXIN and GSK3beta are recruited to the plasma membrane through interaction with DVL (Tamai et al, 2004; Mao et al, 2001; reviewed in He et al, 2004). Polymerization...
    • HTLV-I infection, organism-specific biosystem (from KEGG)
      HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
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    • MicroRNAs in cardiomyocyte hypertrophy, organism-specific biosystem (from WikiPathways)
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    • Negative regulation of TCF-dependent signaling by DVL-interacting proteins, organism-specific biosystem (from REACTOME)
      Negative regulation of TCF-dependent signaling by DVL-interacting proteins, organism-specific biosystemDVL is a central component of WNT signaling that plays roles in both canonical and non-canonical pathways (reviewed in Gao and Chen, 2010). In the canonical pathway, DVL recruits AXIN from the destr...
    • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
      Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
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      Noncanonical Wnt signaling pathway, organism-specific biosystem
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    • PCP/CE pathway, organism-specific biosystem (from REACTOME)
      PCP/CE pathway, organism-specific biosystemThe planar cell polarity (PCP) pathway controls the establishment of polarity within the plane of a sheet of cells. PCP was initially characterized in Drosophila, where it controls the arrangement o...
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      Presenilin action in Notch and Wnt signaling, organism-specific biosystem
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      RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
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      Regulation of Microtubule Cytoskeleton, organism-specific biosystem
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    • Wnt Signaling Pathway, organism-specific biosystem (from WikiPathways)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC54245

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Rac GTPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    frizzled binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    frizzled binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    molecular_function ND
    No biological Data available
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Wnt signaling pathway, planar cell polarity pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axon extension IEA
    Inferred from Electronic Annotation
    more info
     
    axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    canonical Wnt signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    cochlea morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    collateral sprouting IEA
    Inferred from Electronic Annotation
    more info
     
    convergent extension involved in neural plate elongation IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasmic microtubule organization IEA
    Inferred from Electronic Annotation
    more info
     
    dendrite morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heart development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of canonical Wnt signaling pathway TAS
    Traceable Author Statement
    more info
     
    negative regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neural tube development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    neuromuscular junction development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neurotransmitter secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    planar cell polarity pathway involved in neural tube closure IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of canonical Wnt signaling pathway TAS
    Traceable Author Statement
    more info
     
    positive regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein localization to synapse TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    prepulse inhibition IEA
    Inferred from Electronic Annotation
    more info
     
    protein localization to microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    protein localization to nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    receptor clustering ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of cellular protein localization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of neurotransmitter levels ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    skeletal muscle acetylcholine-gated channel clustering IEA
    Inferred from Electronic Annotation
    more info
     
    social behavior IEA
    Inferred from Electronic Annotation
    more info
     
    synapse assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    synapse organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    axon IEA
    Inferred from Electronic Annotation
    more info
     
    clathrin-coated vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic, membrane-bounded vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    growth cone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with lateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    neuron projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    segment polarity protein dishevelled homolog DVL-1
    Names
    DSH homolog 1
    dishevelled 1 (homologous to Drosophila dsh)
    dishevelled, dsh homolog 1
    dishevelled-1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008048.1 RefSeqGene

      Range
      5001..18835
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004421.2NP_004412.2  segment polarity protein dishevelled homolog DVL-1

      See identical proteins and their annotated locations for NP_004412.2

      Status: REVIEWED

      Source sequence(s)
      BC025292
      Consensus CDS
      CCDS22.1
      UniProtKB/Swiss-Prot
      O14640
      Related
      ENSP00000368169, OTTHUMP00000003104, ENST00000378891, OTTHUMT00000008487
      Conserved Domains (5) summary
      pfam02377
      Location:159210
      Dishevelled; Dishevelled specific domain
      smart00021
      Location:185
      DAX; Domain present in Dishevelled and axin
      cd00992
      Location:249336
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd04438
      Location:392474
      DEP_dishevelled; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in dishevelled-like proteins. Dishevelled-like proteins play a key role in the transduction of the Wnt signal from the cell surface to the nucleus, which in turn is an important regulatory pathway ...
      pfam12316
      Location:478660
      Dsh_C; Segment polarity protein dishevelled (Dsh) C terminal

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

      Range
      1335278..1349158 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005244731.2XP_005244788.1  

      See identical proteins and their annotated locations for XP_005244788.1

      UniProtKB/Swiss-Prot
      O14640
      Related
      ENSP00000368166, OTTHUMP00000003106, ENST00000378888, OTTHUMT00000008490
      Conserved Domains (5) summary
      pfam02377
      Location:159210
      Dishevelled; Dishevelled specific domain
      smart00021
      Location:185
      DAX; Domain present in Dishevelled and axin
      cd00992
      Location:249336
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd04438
      Location:417499
      DEP_dishevelled; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in dishevelled-like proteins. Dishevelled-like proteins play a key role in the transduction of the Wnt signal from the cell surface to the nucleus, which in turn is an important regulatory pathway ...
      pfam12316
      Location:503685
      Dsh_C; Segment polarity protein dishevelled (Dsh) C terminal
    2. XM_005244733.2XP_005244790.1  

      Conserved Domains (4) summary
      pfam02377
      Location:159210
      Dishevelled; Dishevelled specific domain
      smart00021
      Location:185
      DAX; Domain present in Dishevelled and axin
      cd00992
      Location:249336
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd04438
      Location:392474
      DEP_dishevelled; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in dishevelled-like proteins. Dishevelled-like proteins play a key role in the transduction of the Wnt signal from the cell surface to the nucleus, which in turn is an important regulatory pathway ...
    3. XM_005244732.2XP_005244789.1  

      Conserved Domains (4) summary
      pfam02377
      Location:159210
      Dishevelled; Dishevelled specific domain
      smart00021
      Location:185
      DAX; Domain present in Dishevelled and axin
      cd00992
      Location:249336
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd04438
      Location:417499
      DEP_dishevelled; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in dishevelled-like proteins. Dishevelled-like proteins play a key role in the transduction of the Wnt signal from the cell surface to the nucleus, which in turn is an important regulatory pathway ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      1257686..1271561 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_181870.1: Suppressed sequence

      Description
      NM_181870.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    2. NM_182779.3: Suppressed sequence

      Description
      NM_182779.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.