DVL1 - dishevelled segment polarity protein 1 Gene

Homo sapiens

Also known as DVL; DRS2; DVL1L1; DVL1P1

Gene ID: 1855 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04076	DVL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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