DVL1

Segment polarity protein dishevelled homolog DVL-1 is a protein that in humans is encoded by the DVL1 gene.^[5][6]

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)[1] Band 1p36.33 Start 1,335,276 bp[1] End 1,349,418 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 E2|4 87.61 cM Start 155,931,859 bp[2] End 155,943,760 bp[2]
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 [3] [4]
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.^[6]

Interactions

DVL1 has been shown to interact with:

• AXIN1,^[7][8]
• DVL3,^[9]
• EPS8,^[10] and
• Mothers against decapentaplegic homolog 3.^[11]

See also

• Dishevelled