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Aliases for DVL1 Gene

Aliases for DVL1 Gene

  • Dishevelled Segment Polarity Protein 1 2 3 5
  • Dishevelled 1 (Homologous To Drosophila Dsh) 2 3
  • DSH Homolog 1 3 4
  • Dishevelled-1 3 4
  • Dishevelled, Dsh Homolog 1 (Drosophila) 2
  • Dishevelled, Dsh Homolog 1 3
  • DVL1L1 3
  • DVL1P1 3
  • DRS2 3
  • DVL 3

External Ids for DVL1 Gene

Previous GeneCards Identifiers for DVL1 Gene

  • GC01M000796
  • GC01M001021
  • GC01M001147
  • GC01M001177
  • GC01M001178
  • GC01M001311
  • GC01M001261
  • GC01M001262

Summaries for DVL1 Gene

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 Robinow Syndrome, Autosomal Dominant 2 and Autosomal Dominant Robinow Syndrome. Among its related pathways are HTLV-I infection and ERK Signaling. GO annotations related to this gene include identical protein binding and enzyme binding. An important paralog of this gene is DIXDC1.

UniProtKB/Swiss-Prot for DVL1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DVL1 Gene

Genomics for DVL1 Gene

Regulatory Elements for DVL1 Gene

Enhancers for DVL1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DVL1 on UCSC Golden Path with GeneCards custom track

Promoters for DVL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DVL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DVL1 Gene

Chromosome:
1
Start:
1,335,276 bp from pter
End:
1,349,350 bp from pter
Size:
14,075 bases
Orientation:
Minus strand

Genomic View for DVL1 Gene

Genes around DVL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DVL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DVL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DVL1 Gene

Proteins for DVL1 Gene

  • Protein details for DVL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14640-DVL1_HUMAN
    Recommended name:
    Segment polarity protein dishevelled homolog DVL-1
    Protein Accession:
    O14640
    Secondary Accessions:
    • Q5TA33
    • Q5TA35

    Protein attributes for DVL1 Gene

    Size:
    695 amino acids
    Molecular mass:
    75187 Da
    Quaternary structure:
    • 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. Interacts with DCDC2.

    Alternative splice isoforms for DVL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DVL1 Gene

Proteomics data for DVL1 Gene at MOPED

Post-translational modifications for DVL1 Gene

  • 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).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DVL1 Gene

Antibody Products

No data available for DME Specific Peptides for DVL1 Gene

Domains & Families for DVL1 Gene

Suggested Antigen Peptide Sequences for DVL1 Gene

Graphical View of Domain Structure for InterPro Entry

O14640

UniProtKB/Swiss-Prot:

DVL1_HUMAN :
  • The DIX domain promotes homooligomerization.
  • Belongs to the DSH family.
Domain:
  • The DIX domain promotes homooligomerization.
  • The DEP domain mediates interaction with the cell membrane.
  • Contains 1 DEP domain.
  • Contains 1 DIX domain.
  • Contains 1 PDZ (DHR) domain.
Family:
  • Belongs to the DSH family.
genes like me logo Genes that share domains with DVL1: view

Function for DVL1 Gene

Molecular function for DVL1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for DVL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019901 protein kinase binding IPI 19643732
genes like me logo Genes that share ontologies with DVL1: view
genes like me logo Genes that share phenotypes with DVL1: view

Human Phenotype Ontology for DVL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DVL1 Gene

MGI Knock Outs for DVL1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DVL1 Gene

Localization for DVL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DVL1 Gene

Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytosol. Cytoplasmic vesicle. Note=Localizes at the cell membrane upon interaction with frizzled family members. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DVL1 Gene COMPARTMENTS Subcellular localization image for DVL1 gene
Compartment Confidence
cytosol 5
nucleus 4
plasma membrane 4
cytoskeleton 3
extracellular 1

Gene Ontology (GO) - Cellular Components for DVL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005874 microtubule IEA --
GO:0016328 colocalizes_with lateral plasma membrane IDA 20177058
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with DVL1: view

Pathways & Interactions for DVL1 Gene

genes like me logo Genes that share pathways with DVL1: view

SIGNOR curated interactions for DVL1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for DVL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001505 regulation of neurotransmitter levels ISS --
GO:0001932 regulation of protein phosphorylation IEA --
GO:0001933 negative regulation of protein phosphorylation IEA --
GO:0001934 positive regulation of protein phosphorylation IEA --
GO:0006366 transcription from RNA polymerase II promoter IDA 11742073
genes like me logo Genes that share ontologies with DVL1: view

Drugs & Compounds for DVL1 Gene

(2) Additional Compounds for DVL1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DVL1: view

Transcripts for DVL1 Gene

Unigene Clusters for DVL1 Gene

Dishevelled, dsh homolog 1 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DVL1 Gene

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: - - - - - - - - - - - - - - - -
SP6: -
SP7: -
SP8:
SP9: - -
SP10:

ExUns: 16 ^ 17a · 17b
SP1: -
SP2:
SP3: -
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for DVL1 Gene

GeneLoc Exon Structure for
DVL1
ECgene alternative splicing isoforms for
DVL1

Expression for DVL1 Gene

mRNA expression in normal human tissues for DVL1 Gene

mRNA differential expression in normal tissues according to GTEx for DVL1 Gene

This gene is overexpressed in Muscle - Skeletal (x4.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DVL1 Gene



SOURCE GeneReport for Unigene cluster for DVL1 Gene Hs.731450

genes like me logo Genes that share expression patterns with DVL1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for DVL1 Gene

Orthologs for DVL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DVL1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DVL1 35
  • 89.35 (n)
  • 94.63 (a)
DVL1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DVL1 35
  • 88.51 (n)
  • 95.67 (a)
DVL1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dvl1 35
  • 87.29 (n)
  • 94.92 (a)
Dvl1 16
Dvl1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DVL1 35
  • 99.1 (n)
  • 99.85 (a)
DVL1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dvl1 35
  • 87.54 (n)
  • 95.07 (a)
oppossum
(Monodelphis domestica)
Mammalia DVL1 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DVL1 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves DVL1 35
  • 73.72 (n)
  • 82.95 (a)
GGA.16412 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DVL1 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dvl1 35
  • 73.46 (n)
  • 86.24 (a)
zebrafish
(Danio rerio)
Actinopterygii dvl1b 35
  • 67.23 (n)
  • 72.94 (a)
DVL1 (1 of 3) 36
  • 67 (a)
OneToMany
DVL1 (3 of 3) 36
  • 87 (a)
OneToMany
dvl1b 36
  • 68 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta dsh 37
  • 64 (a)
dsh 36
  • 45 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T05C12.6c 37
  • 29 (a)
dsh-1 36
  • 24 (a)
ManyToMany
dsh-2 36
  • 27 (a)
ManyToMany
mig-5 36
  • 27 (a)
ManyToMany
Species with no ortholog for DVL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DVL1 Gene

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

Paralogs for DVL1 Gene

Paralogs for DVL1 Gene

(5) SIMAP similar genes for DVL1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with DVL1: view

Variants for DVL1 Gene

Sequence variations from dbSNP and Humsavar for DVL1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs182531 -- 1,342,216(+) CCGCC(C/T)AGCCC intron-variant
rs307356 -- 1,346,890(+) CAGGG(C/T)CAGTG intron-variant
rs307357 -- 1,345,965(+) TCTCT(C/T)TGTGC intron-variant
rs307358 -- 1,345,139(-) GGGCC(A/G)TGCGG intron-variant
rs307359 -- 1,344,634(+) TTCTC(A/G)GACCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DVL1 Gene

Variant ID Type Subtype PubMed ID
nsv10161 CNV Gain+Loss 18304495
dgv2n67 CNV Gain 20364138
dgv10n71 CNV Loss 21882294
dgv12n71 CNV Loss 21882294
nsv470680 CNV Loss 18288195
dgv17n71 CNV Loss 21882294
dgv19n71 CNV Loss 21882294
dgv20n71 CNV Loss 21882294
nsv870527 CNV Gain 21882294
nsv482937 CNV Loss 15286789
dgv22n71 CNV Loss 21882294
dgv25n71 CNV Loss 21882294
nsv870639 CNV Loss 21882294
nsv871666 CNV Gain+Loss 21882294
dgv28n71 CNV Gain 21882294
dgv8e1 CNV Complex 17122850
dgv29n71 CNV Loss 21882294
dgv30n71 CNV Gain 21882294
dgv31n71 CNV Gain 21882294
dgv32n71 CNV Gain+Loss 21882294
dgv33n71 CNV Loss 21882294
dgv34n71 CNV Loss 21882294
nsv870491 CNV Loss 21882294
dgv38n71 CNV Loss 21882294
dgv39n71 CNV Loss 21882294
esv2746363 CNV Deletion 23290073

Variation tolerance for DVL1 Gene

Residual Variation Intolerance Score: 20.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.47; 43.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DVL1 Gene

Human Gene Mutation Database (HGMD)
DVL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DVL1 Gene

Disorders for DVL1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for DVL1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
robinow syndrome, autosomal dominant 2
  • drs2
autosomal dominant robinow syndrome
  • fetal face syndrome
charcot-marie-tooth disease type 2a
  • charcot marie tooth disease type 2a
robinow syndrome
  • acral dysostosis with facial and genital abnormalities
neural tube defects
  • spina bifida
- elite association - COSMIC cancer census association via MalaCards
Search DVL1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DVL1_HUMAN
  • Robinow syndrome, autosomal dominant 2 (DRS2) [MIM:616331]: A rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, costovertebral segmentation defects, and renal anomalies. {ECO:0000269 PubMed:25817014, ECO:0000269 PubMed:25817016}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DVL1

Genetic Association Database (GAD)
DVL1
Human Genome Epidemiology (HuGE) Navigator
DVL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DVL1
genes like me logo Genes that share disorders with DVL1: view

No data available for Genatlas for DVL1 Gene

Publications for DVL1 Gene

  1. Identification of genomic organisation, sequence variants and analysis of the role of the human dishevelled 1 gene in late onset Alzheimer's disease. (PMID: 11803455) Russ C. … Powell J.F. (Mol. Psychiatry 2002) 3 23 48 67
  2. Inhibition of the Wnt/beta-catenin pathway by the WWOX tumor suppressor protein. (PMID: 19465938) Bouteille N. … Lallemand F. (Oncogene 2009) 3 23
  3. Mutations in the human naked cuticle homolog NKD1 found in colorectal cancer alter Wnt/Dvl/beta-catenin signaling. (PMID: 19956716) Guo J. … Liu W. (PLoS ONE 2009) 3 23
  4. Differential mediation of the Wnt canonical pathway by mammalian Dishevelleds-1, -2, and -3. (PMID: 18093802) Lee Y.N. … Wang H.Y. (Cell. Signal. 2008) 3 23
  5. Dishevelled family proteins are expressed in non-small cell lung cancer and function differentially on tumor progression. (PMID: 18692936) Wei Q. … Wang E.H. (Lung Cancer 2008) 3 23

Products for DVL1 Gene

Sources for DVL1 Gene

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