DVL1 - dishevelled segment polarity protein 1 Gene

Also Known as DVL; DRS2; DVL1L1; DVL1P1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1855

About DVL1

Cytogenetic location: 1p36.33 Genomic coordinates (GRCh38): 1:1,335,278-1,349,418 (from NCBI)

This gene has 7 transcripts (splice variants), 215 orthologues, 3 paralogues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 16.9), fat (RPKM 14.7) and 25 other tissues.

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]

DVL1 Products (2)

mRNA	Protein	Name
NM_001330311.2	NP_001317240.1	segment polarity protein dishevelled homolog DVL-1 isoform 1
NM_004421.3	NP_004412.2	segment polarity protein dishevelled homolog DVL-1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables enzyme binding	IPI IPI: Inferred from physical interaction	15454084	GOA
enables frizzled binding	IPI IPI: Inferred from physical interaction	19388021	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	10330181	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10330181	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	19643732	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in Wnt signaling pathway, planar cell polarity pathway	IDA IDA: Inferred from direct assay	12805222	GOA
involved in canonical Wnt signaling pathway	IDA IDA: Inferred from direct assay	11113207	GOA
involved in canonical Wnt signaling pathway	IGI IGI: Inferred from genetic interaction	12556519	GOA
involved in neural tube development	IEP IEP: Inferred from expression pattern	8817329	GOA
involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	20177058	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	12805222	GOA
involved in protein localization to nucleus	IMP IMP: Inferred from mutant phenotype	10330181	GOA
involved in protein stabilization	IDA IDA: Inferred from direct assay	19625296	GOA
involved in regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	11742073	GOA
involved in regulation of protein localization	IDA IDA: Inferred from direct assay	19625296	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	11113207	GOA
located in growth cone	IDA IDA: Inferred from direct assay	19625296	GOA
located in lateral plasma membrane	IDA IDA: Inferred from direct assay	20177058	GOA
located in neuron projection	IDA IDA: Inferred from direct assay	19625296	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DVL1 Protein Structure

DIX

Dishevelled

PDZ

DEP

Dsh_C

0
200
400
600
695 a.a.

Protein Preferred Names	Protein Names
segment polarity protein dishevelled homolog DVL-1	DSH homolog 1

DVL1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DVL1	O14640	SCYL2	Homo sapiens	Q6P3W7	Anti Tag CoIP	19643732
Intra	DVL1	O14640	SCYL2	Homo sapiens	Q6P3W7	Pull Down	19643732
Intra	DVL1	O14640	DVL3	Homo sapiens	Q92997	Anti Tag CoIP	10330181
Intra	DVL1	O14640	CSNK1E	Homo sapiens	P49674	Anti Tag CoIP	11425858
Intra	DVL1	O14640	CSNK1E	Homo sapiens	P49674	Pull Down	11425858
Intra	DVL1	O14640	DVL3	Homo sapiens	Q92997	Pull Down	10330181
Intra	DVL1	O14640	APC	Homo sapiens	P25054	Anti Bait CoIP	20224554
Intra	DVL1	O14640	DVL2	Homo sapiens	O14641	Anti Tag CoIP	33961781
Intra	DVL1	O14640	DVL2	Homo sapiens	O14641	Anti Bait CoIP	20224554
Intra	DVL1	O14640	WWTR1	Homo sapiens	Q9GZV5	Anti Tag CoIP	20412773
Intra	DVL1	O14640	TFDP1	Homo sapiens	Q14186	IF	22773187
Intra	DVL1	O14640	TFDP1	Homo sapiens	Q14186	Anti Tag CoIP	22773187
Intra	DVL1	O14640	Axin1	Rattus norvegicus	O70239	Y2H	10330181
Intra	DVL1	O14640	Axin1	Rattus norvegicus	O70239	Anti Tag CoIP	11425858
Intra	DVL1	O14640	Axin1	Rattus norvegicus	O70239	Anti Tag CoIP	10330181
Intra	DVL1	O14640	Axin1	Rattus norvegicus	O70239	Pull Down	10330181
Intra	DVL1	O14640	Axin1	Rattus norvegicus	O70239	Pull Down	11113207
Intra	DVL1	O14640	Axin1	Rattus norvegicus	O70239	Confocal	11113207
Cross	DVL1	O14640	Cxxc4	Rattus norvegicus	Q9EQC9	Confocal	11113207

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Robinow Syndrome, Autosomal Dominant 2	Autosomal Dominant Robinow Syndrome 2 DRS2 Robinow, Autosomal Dominant Syndrome, Type 2
Robinow Syndrome, Autosomal Dominant 1	Autosomal Dominant Robinow Syndrome 1 DRS1 Robinow Dwarfism Fetal Face Syndrome Acral Dysostosis With Facial And Genital Abnormalities Robinow, Autosomal Dominant Syndrome, Type 1
Robinow Syndrome	Acral Dysostosis With Facial And Genital Abnormalities Fetal Face Syndrome Robinow Dwarfism Mesomelic Dwarfism-Small Genitalia Syndrome Robinow-Silverman-Smith Syndrome Costovertebral Segmentation Defect With Mesomelia Covesdem Syndrome Robinow'S Syndrome Robinow-Silverman Syndrome
Autosomal Dominant Robinow Syndrome	Fetal Face Syndrome Robinow Syndrome, Autosomal Dominant
Robinow Syndrome, Autosomal Recessive 1	Robinow Syndrome, Autosomal Recessive Autosomal Recessive Robinow Syndrome Covesdem Syndrome RRS1 Costovertebral Segmentation Defect-Mesomelia Syndrome Rrs Costovertebral Segmentation Defect With Mesomelia, Formerly Covesdem Syndrome, Formerly Costovertebral Segmentation Defect With Mesomelia Robinow Syndrome Autosomal Recessive With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals Robinow Syndrome Autosomal Recessive With Brachy-Syn-Polydactyly Robinow Syndrome, Autosomal Recessive, With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals Robinow Syndrome, Autosomal Recessive, With Brachy-Syn-Polydactyly Robinow, Autosomal Recessive Syndrome, Type 1
Charcot-Marie-Tooth Disease Type 2a	Charcot-Marie-Tooth Disease, Type 2a Cmt 2a Charcot Marie Tooth Disease Type 2a Charcot-Marie-Tooth Disease, Axonal, Type 2a Charcot-Marie-Tooth Disease, Neuronal, Type 2a Hmsn Iia Hereditary Motor And Sensory Neuropathy 2 A
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies SSFSC2 Ssfsc Doid:0112358
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Familial Adenomatous Polyposis	Adenomatous Polyposis Coli Fap Familial Polyposis Coli Familial Multiple Polyposis Syndrome Adenomatous Polyposis Of The Colon Familial Intestinal Polyposis Fpc Familial Adenomatous Polyposis Of The Colon Familial Multiple Polyposis Familial Polyposis Of The Colon Hereditary Polyposis Coli Polyposis, Adenomatous Intestinal Adenomatous Familial Polyposis Adenomatous Familial Polyposis Syndrome Myh-Associated Polyposis Colorectal Adenomatous Polyposis Adenomatous Polyposis, Familial Mutyh-Associate Polyposis
Digeorge Syndrome	Chromosome 22q11.2 Deletion Syndrome DGS Hypoplasia Of Thymus And Parathyroids Third And Fourth Pharyngeal Pouch Syndrome 22q11.2 Deletion Syndrome Digeorge Sequence Digeorge'S Syndrome Pharyngeal Pouch Syndrome Di-George Syndrome Shprintzen Syndrome
Brachydactyly, Type B1	Brachydactyly Type B1 Brachydactyly Type B BDB1 Brachydactyly, Type B Bdb Brachydactyly B1
Omodysplasia	Omodysplasia Type 1 Omodysplasia 2
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Dentatorubral-Pallidoluysian Atrophy	DRPLA Naito-Oyanagi Disease Haw River Syndrome Myoclonic Epilepsy With Choreoathetosis Nod Ataxia, Chorea, Seizures, And Dementia Dentatorubropallidoluysian Atrophy Hrs Naito Oyanagi Disease Dentatorubral Pallidoluysian Atrophy Dentatorubro-Pallidoluysian Atrophy Myoclonic Epilepsies, Progressive Atrophy, Pallidoluysian, Dentatorubral
Tethered Spinal Cord Syndrome	Spinal Dysraphism Tethered Cord Syndrome Occult Spinal Dysraphism Occult Spinal Dysraphism Sequence Segmental Vertebral Anomalies Tethered Spinal Cord Disease Tethered Cord Spina Bifida Occulta Cryptomerorachischisis Spina Bifida Occulta With Tethered Spinal Cord Sbo - [Spina Bifida Occulta]
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Carcinoma, Hepatocellular Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Chromosome 1p36 Deletion Syndrome	1p36 Deletion Syndrome Deletion 1p36 Monosomy 1p36 Subtelomeric 1p36 Deletion Monosomy 1p36 Syndrome Distal Monosomy 1p36 Del(1)(P36) Deletion 1pter Monosomy 1pter
Salivary Gland Adenoid Cystic Carcinoma	Cylindroma
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1
Exudative Vitreoretinopathy	Familial Exudative Vitreoretinopathy Fevr Criswick-Schepens Syndrome Exudative Vitreoretinopathy, Familial Vitreoretinopathy, Exudative ) Exudative Vitreoretinopathy 1
Double Outlet Right Ventricle	Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect Taussig-Bing Syndrome Dextrotransposition Of Aorta Taussig-Bing Syndrome Or Defect Dorv Dorv With Subpulmonary Vsd Dorv-Tga Double Outlet Right Ventricle With Transposition Of The Great Arteries Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type Taussig-Bing Heart Taussig-Bing Malformation Taussig-Bing Complex Taussig-Bing Defect Taussig-Bing Double Outlet Right Ventricle With Remote Ventricular Septal Defect Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect Double Outlet Right Ventricle With Non-Committed Interventricular Communication Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-184469	DVL1/P-gp-IN-1		/	Unkown
HY-RS04076	DVL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20720	Dvl1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27232	Dvl1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	DVL1	MGD	MGI:94941
Canis familiaris	DVL1	VGNC	VGNC:53355
Felis catus	DVL1	VGNC	VGNC:80191
Rattus norvegicus	DVL1	RGD	RGD:620632
Others	DVL1	NCBI