DVL1

Segment polarity protein dishevelled homolog DVL-1 is a protein that in humans is encoded by the DVL1 gene.

DVL1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1FSH, 1MC7, 2KAW, 3PZ8
Identifiers
Aliases	DVL1, DVL, DVL1L1, DVL1P1, DRS2, dishevelled segment polarity protein 1
External IDs	OMIM: 601365; MGI: 94941; HomoloGene: 20926; GeneCards: DVL1; OMA:DVL1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1p36.33 Start 1,335,276 bp End 1,349,418 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4 E2|4 87.61 cM Start 155,931,859 bp End 155,943,760 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in muscle of thigh gastrocnemius muscle Skeletal muscle tissue of rectus abdominis apex of heart right frontal lobe pancreatic ductal cell body of tongue thoracic diaphragm amygdala right hemisphere of cerebellum Top expressed in medullary collecting duct Paneth cell renal corpuscle substantia nigra barrel cortex Rostral migratory stream motor neuron vastus lateralis muscle ascending aorta fossa More reference expression data BioGPS n/a
Gene ontology Molecular function beta-catenin binding frizzled binding protein binding identical protein binding enzyme binding protein kinase binding Cellular component cytoplasm cytosol Wnt signalosome lateral plasma membrane membrane microtubule cytoskeleton growth cone plasma membrane synapse axon soma dendrite neuron projection microtubule clathrin-coated vesicle presynapse dendritic spine postsynaptic density cytoplasmic vesicle Schaffer collateral - CA1 synapse glutamatergic synapse Biological process regulation of protein phosphorylation negative regulation of protein phosphorylation regulation of neurotransmitter levels positive regulation of protein phosphorylation intracellular signal transduction axonogenesis negative regulation of protein kinase activity dendrite morphogenesis synapse organization protein stabilization Wnt signaling pathway transcription by RNA polymerase II negative regulation of protein binding receptor clustering planar cell polarity pathway involved in neural tube closure axon guidance positive regulation of transcription, DNA-templated positive regulation of Wnt signaling pathway multicellular organism development Wnt signaling pathway, planar cell polarity pathway protein localization to microtubule neuromuscular junction development cochlea morphogenesis neural tube development cytoplasmic microtubule organization positive regulation of neuron projection development axon extension protein localization to nucleus canonical Wnt signaling pathway social behavior skeletal muscle acetylcholine-gated channel clustering collateral sprouting convergent extension involved in neural plate elongation negative regulation of canonical Wnt signaling pathway neurotransmitter secretion positive regulation of proteasomal ubiquitin-dependent protein catabolic process convergent extension involved in organogenesis prepulse inhibition positive regulation of canonical Wnt signaling pathway beta-catenin destruction complex disassembly dendritic spine morphogenesis positive regulation of excitatory postsynaptic potential presynapse assembly positive regulation of protein localization to presynapse non-canonical Wnt signaling pathway postsynapse organization positive regulation of neuron projection arborization regulation of synaptic vesicle exocytosis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1855 13542 Ensembl ENSG00000107404 ENSMUSG00000029071 UniProt O14640 P51141 RefSeq (mRNA) NM_004421 NM_181870 NM_182779 NM_001330311 NM_010091 NM_001302342 NM_001356381 RefSeq (protein) NP_001317240 NP_004412 NP_034221 NP_001343310 Location (UCSC) Chr 1: 1.34 – 1.35 Mb Chr 4: 155.93 – 155.94 Mb PubMed search
Wikidata
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Function

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 processes involved in cell transformations involved in neuroblastoma. 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. Three transcript variants encoding three different isoforms have been found for this gene.

Interactions

DVL1 has been shown to interact with:

• AXIN1,
• DVL3,
• EPS8, and
• Mothers against decapentaplegic homolog 3.

See also

• Dishevelled

Further reading

• Wharton KA (2003). "Runnin' with the Dvl: proteins that associate with Dsh/Dvl and their significance to Wnt signal transduction". Dev. Biol. 253 (1): 1–17. doi:10.1006/dbio.2002.0869. PMID 12490194.
• Klingensmith J, Nusse R, Perrimon N (1994). "The Drosophila segment polarity gene dishevelled encodes a novel protein required for response to the wingless signal". Genes Dev. 8 (1): 118–30. doi:10.1101/gad.8.1.118. PMID 8288125.
• Pizzuti A, Novelli G, Mari A, Ratti A, Colosimo A, Amati F, Penso D, Sangiuolo F, Calabrese G, Palka G, Silani V, Gennarelli M, Mingarelli R, Scarlato G, Scambler P, Dallapiccola B (1996). "Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome". Am. J. Hum. Genet. 58 (4): 722–9. PMC 1914677. PMID 8644734.
• Steitz SA, Tsang M, Sussman DJ (1997). "Wnt-mediated relocalization of dishevelled proteins". In Vitro Cell. Dev. Biol. Anim. 32 (7): 441–5. doi:10.1007/BF02723007. PMID 8856345. S2CID 20740333.
• Semënov MV, Snyder M (1997). "Human dishevelled genes constitute a DHR-containing multigene family". Genomics. 42 (2): 302–10. doi:10.1006/geno.1997.4713. PMID 9192851.
• Bui TD, Beier DR, Jonssen M, Smith K, Dorrington SM, Kaklamanis L, Kearney L, Regan R, Sussman DJ, Harris AL (1997). "cDNA cloning of a human dishevelled DVL-3 gene, mapping to 3q27, and expression in human breast and colon carcinomas". Biochem. Biophys. Res. Commun. 239 (2): 510–6. doi:10.1006/bbrc.1997.7500. PMID 9344861.
• Ikeda S, Kishida S, Yamamoto H, Murai H, Koyama S, Kikuchi A (1998). "Axin, a negative regulator of the Wnt signaling pathway, forms a complex with GSK-3beta and beta-catenin and promotes GSK-3beta-dependent phosphorylation of beta-catenin". EMBO J. 17 (5): 1371–84. doi:10.1093/emboj/17.5.1371. PMC 1170485. PMID 9482734.
• Kishida S, Yamamoto H, Hino S, Ikeda S, Kishida M, Kikuchi A (1999). "DIX domains of Dvl and axin are necessary for protein interactions and their ability to regulate beta-catenin stability". Mol. Cell. Biol. 19 (6): 4414–22. doi:10.1128/mcb.19.6.4414. PMC 104400. PMID 10330181.
• Fagotto F, Jho Eh, Zeng L, Kurth T, Joos T, Kaufmann C, Costantini F (1999). "Domains of axin involved in protein-protein interactions, Wnt pathway inhibition, and intracellular localization". J. Cell Biol. 145 (4): 741–56. doi:10.1083/jcb.145.4.741. PMC 2133179. PMID 10330403.
• Li L, Yuan H, Weaver CD, Mao J, Farr GH, Sussman DJ, Jonkers J, Kimelman D, Wu D (1999). "Axin and Frat1 interact with dvl and GSK, bridging Dvl to GSK in Wnt-mediated regulation of LEF-1". EMBO J. 18 (15): 4233–40. doi:10.1093/emboj/18.15.4233. PMC 1171499. PMID 10428961.
• Strovel ET, Wu D, Sussman DJ (2000). "Protein phosphatase 2Calpha dephosphorylates axin and activates LEF-1-dependent transcription". J. Biol. Chem. 275 (4): 2399–403. doi:10.1074/jbc.275.4.2399. PMID 10644691.
• Song DH, Sussman DJ, Seldin DC (2000). "Endogenous protein kinase CK2 participates in Wnt signaling in mammary epithelial cells". J. Biol. Chem. 275 (31): 23790–7. doi:10.1074/jbc.M909107199. PMID 10806215.
• Hino S, Kishida S, Michiue T, Fukui A, Sakamoto I, Takada S, Asashima M, Kikuchi A (2001). "Inhibition of the Wnt signaling pathway by Idax, a novel Dvl-binding protein". Mol. Cell. Biol. 21 (1): 330–42. doi:10.1128/MCB.21.1.330-342.2001. PMC 88806. PMID 11113207.
• Rubinfeld B, Tice DA, Polakis P (2001). "Axin-dependent phosphorylation of the adenomatous polyposis coli protein mediated by casein kinase 1epsilon". J. Biol. Chem. 276 (42): 39037–45. doi:10.1074/jbc.M105148200. PMID 11487578.
• Chen W, Hu LA, Semenov MV, Yanagawa S, Kikuchi A, Lefkowitz RJ, Miller WE (2002). "beta-Arrestin1 modulates lymphoid enhancer factor transcriptional activity through interaction with phosphorylated dishevelled proteins". Proc. Natl. Acad. Sci. U.S.A. 98 (26): 14889–94. Bibcode:2001PNAS...9814889C. doi:10.1073/pnas.211572798. PMC 64954. PMID 11742073.
• Habas R, Kato Y, He X (2002). "Wnt/Frizzled activation of Rho regulates vertebrate gastrulation and requires a novel Formin homology protein Daam1". Cell. 107 (7): 843–54. doi:10.1016/S0092-8674(01)00614-6. PMID 11779461. S2CID 16894557.
• Russ C, Lovestone S, Powell JF (2002). "Identification of genomic organisation, sequence variants and analysis of the role of the human dishevelled 1 gene in late onset Alzheimer's disease". Mol. Psychiatry. 7 (1): 104–9. doi:10.1038/sj/mp/4000941. PMID 11803455.
• Gao ZH, Seeling JM, Hill V, Yochum A, Virshup DM (2002). "Casein kinase I phosphorylates and destabilizes the beta-catenin degradation complex". Proc. Natl. Acad. Sci. U.S.A. 99 (3): 1182–7. Bibcode:2002PNAS...99.1182G. doi:10.1073/pnas.032468199. PMC 122164. PMID 11818547.

External links

• DVL1 on the Atlas of Genetics and Oncology