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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DVL1 Gene

protein-coding GIFtS: 65
GCID: GC01M001262

Dishevelled Segment Polarity Protein 1

(Previous names: dishevelled 1 (homologous to Drosophila dsh), dishevelled,...)

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Dishevelled Segment Polarity Protein 1¹ ²		DVL1P1²
Dishevelled 1 (Homologous To Drosophila Dsh)¹ ²		Dishevelled, Dsh Homolog 1²
DSH Homolog 1² ³		dishevelled-1²
Dishevelled, Dsh Homolog 1 (Drosophila)¹		Segment Polarity Protein Dishevelled Homolog DVL-1²
DVL²		Dishevelled-1³
DVL1L1²

External Ids:	HGNC: 3084¹	Entrez Gene: 1855²	Ensembl: ENSG00000107404⁷	OMIM: 601365⁵	UniProtKB: O14640³

Export aliases for DVL1 gene to outside databases

Previous GC identifers: GC01M000796 GC01M001021 GC01M001147 GC01M001177 GC01M001178 GC01M001311 GC01M001261

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 charcot-marie-tooth disease type 2a, and dentatorubral-pallidoluysian atrophy, and among its related super-pathways are Wnt signaling pathway and Notch Signaling Pathway. GO annotations related to this gene include protein kinase binding and molecular_function. An important paralog of this gene is DVL2.

UniProtKB/Swiss-Prot: DVL1_HUMAN, O14640

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 Wiki entry for DVL1 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NT_004350.19 NC_018912.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DVL1 gene promoter:
HNF-4alpha2 HNF-4alpha1 C/EBPalpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DVL1 promoter sequence

Search SABiosciences Chromatin IP Primers for DVL1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DVL1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36 Ensembl cytogenetic band: 1p36.33 HGNC cytogenetic band: 1p36

DVL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DVL1 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M001262: view genomic region (about GC identifiers)

Start:	1,270,656 bp from pter	End:	1,284,730 bp from pter
Size:	14,075 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DVL1_HUMAN, O14640 (See protein sequence)

Recommended Name: Segment polarity protein dishevelled homolog DVL-1

Size: 695 amino acids; 75187 Da

Subunit: 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)

Subcellular location: Cell membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Cytoplasm,

cytosol (By similarity). Cytoplasmic vesicle (By similarity). Note=Localizes at the cell membrane upon

interaction with frizzled family members (By similarity)

Secondary accessions: Q5TA33 Q5TA35

Alternative splicing: 2 isoforms: O14640-1 O14640-2

Explore the universe of human proteins at neXtProt for DVL1: NX_O14640

Explore proteomics data for DVL1 at MOPED

Post-translational modifications:

UniProtKB: 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)

View modification sites using PhosphoSitePlus (DVL1)

View neXtProt modification sites for NX_O14640

DVL1 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_004412.2

ENSEMBL proteins:

ENSP00000368169 ENSP00000368166

Human Recombinant Protein Products for DVL1:

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	Browse R&D Systems for human recombinant proteins
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	Novus Biologicals DVL1 Proteins Novus Biologicals DVL1 Lysates
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for DVL1

Gene Ontology (GO): 5/15 cellular component terms (GO ID links to tree view) (see all 15): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005737	cytoplasm	NAS	--
GO:0005829	cytosol	IEA	--
GO:0005874	microtubule	IBA	--
GO:0005938	cell cortex	IBA	--

DVL1 for ontologies About GeneDecksing

DVL1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of DVL1
	R&D Systems Antibodies for DVL1 (Dishevelled-1)
	Browse OriGene Antibodies OriGene Custom Antibody Services for DVL1
	GenScript Custom Superior Antibodies Services for DVL1
	Novus Biologicals DVL1 Antibodies
	Abcam antibodies for DVL1
	Cloud-Clone Corp. Antibodies for DVL1
	ThermoFisher Antibodies for DVL1
	LSBio Antibodies in human, mouse, rat for DVL1

Assay Products for DVL1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for DVL1
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for DVL1
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for DVL1 Cloud-Clone Corp. CLIAs for DVL1

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

DVL: Dishevelled homologs

5/9 InterPro protein domains (see all 9):

IPR011991 WHTH_DNA-bd_dom

IPR001478 PDZ

IPR024580 Dishevelled_C-dom

IPR008340 Dishevelled_1

IPR015506 Dsh/Dvl-rel

Graphical View of Domain Structure for InterPro Entry O14640

ProtoNet protein and cluster: O14640

4 Blocks protein domains:

IPB000591 Pleckstrin putative G-protein interacting domain

IPB001478 PDZ/DHR/GLGF domain

IPB003351 Dishevelled protein

IPB008339 Dishevelled protein signature

UniProtKB/Swiss-Prot: DVL1_HUMAN, O14640

Domain: The DIX domain promotes homooligomerization (By similarity)

Domain: The DEP domain mediates interaction with the cell membrane (By similarity)

Similarity: Belongs to the DSH family

Similarity: Contains 1 DEP domain

Similarity: Contains 1 DIX domain

Similarity: Contains 1 PDZ (DHR) domain

DVL1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: DVL1_HUMAN, O14640

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)

Genatlas biochemistry entry for DVL1:

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

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--
GO:0004871	signal transducer activity	IEA	--
GO:0005109	frizzled binding	IPI	19388021
GO:0005515	protein binding	IPI	10330181
GO:0019899	enzyme binding	IPI	15454084

DVL1 for ontologies About GeneDecksing

Phenotypes:
8 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Dvl1):

behavior/neurological	cardiovascular system	embryogenesis	hearing/vestibular/ear	mortality/aging
nervous system	normal	skeleton

DVL1 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Dvl1^tm1Awb for DVL1

inGenious Targeting Laboratory - Custom generated mouse model solutions for DVL1

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DVL1

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DVL1

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DVL1

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DVL1
		7 QIAGEN miScript miRNA Assays for microRNAs that regulate DVL1:
		hsa-miR-3163 hsa-miR-466 hsa-miR-4255 hsa-miR-139-5p hsa-miR-4282 hsa-miR-3941 hsa-miR-646
		SwitchGear 3'UTR luciferase reporter plasmid: DVL1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene RNAi products in human, mouse, rat for DVL1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DVL1

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for DVL1
			Sirion Biotech Customized adenovirus for overexpression of DVL1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene clones in human, mouse for DVL1 (see all 12) OriGene ORF clones in mouse, rat for DVL1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: DVL1 (NM_004421)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DVL1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DVL1
		Sirion Biotech Customized lentivirus for stable overexpression of DVL1 Customized lentivirus expression plasmids for stable overexpression of DVL1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for DVL1
		Search LifeMap BioReagents cell lines for DVL1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DVL1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for DVL1 About (see all 25)

See pathways by source

SuperPath

Contained pathways About

Wnt signaling pathway

	Wnt signaling pathway	0.40			Wnt Signaling Pathway NetPath	0.37
	Wnt Signaling Pathway	0.40

Notch signaling pathway

Notch signaling pathway

0.84

Notch Signaling Pathway

0.84

Wnt Signaling Pathway

	Wnt Signaling Pathway	0.55			DNA damage response (only ATM dependent)	0.32
	Wnt Signaling Pathway and Pluripotency	0.55

Nanog in Mammalian ESC Pluripotency

Nanog in Mammalian ESC Pluripotency

0.61

GSK3 Signaling

0.61

Human Embryonic Stem Cell Pluripotency

Human Embryonic Stem Cell Pluripotency

0.50

Factors Promoting Cardiogenesis in Vertebrates

0.50

Pathways by source See SuperPaths
Show all pathways

2 EMD Millipore Pathways for DVL1

	Transcription Androgen Receptor nuclear signaling
	Translation Non-genomic (rapid) action of Androgen Receptor

1 R&D Systems Pathway for DVL1

Wnt Signaling Pathway

5/11 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for DVL1 (see all 11)

	Factors Promoting Cardiogenesis in Vertebrates
	Molecular Mechanisms of Cancer
	G12-G13 in Cellular Signaling
	Colorectal Cancer Metastasis
	Reelin Pathway (Cajal-Retzius cells)

2 GeneGo (Thomson Reuters) Pathways for DVL1

	Transcription Androgen Receptor nuclear signaling
	Translation Non-genomic (rapid) action of Androgen Receptor

5/13 BioSystems Pathways for DVL1 (see all 13)

	MicroRNAs in cardiomyocyte hypertrophy
	Wnt Signaling Pathway
	Adipogenesis
	DNA damage response (only ATM dependent)
	Wnt Signaling Pathway and Pluripotency

5/7 Kegg Pathways (Kegg details for DVL1) (see all 7):

	Wnt signaling pathway
	Notch signaling pathway
	Hippo signaling pathway
	Melanogenesis
	HTLV-I infection

DVL1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for DVL1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/167 Interacting proteins for DVL1 (O14640^{1, 2, 3} ENSP00000368169⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 167)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
APC	P25054²^,³, ENSP00000257430⁴	MINT-7897032 MINT-7897055 MINT-7897075 MINT-7897100 I2D: score=1 STRING: ENSP00000257430
DAAM1	Q9Y4D1²^,³, ENSP00000247170⁴	MINT-8379834 MINT-8379825 I2D: score=2 STRING: ENSP00000247170
USP13	Q92995²^,³	MINT-65081 I2D: score=5
ANXA7	P20073²^,³	MINT-8248285 I2D: score=2
DVL2	O14641²^,³, ENSP00000005340⁴	MINT-7897032 MINT-7897075 I2D: score=4 STRING: ENSP00000005340

About this table

Gene Ontology (GO): 5/39 biological process terms (GO ID links to tree view) (see all 39): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001505	regulation of neurotransmitter levels	ISS	--
GO:0001932	regulation of protein phosphorylation	--	--
GO:0001933	negative regulation of protein phosphorylation	--	--
GO:0006366	transcription from RNA polymerase II promoter	IDA	11742073
GO:0006469	negative regulation of protein kinase activity	IDA	10330181

DVL1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

DVL1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DVL1

2 Novoseek inferred chemical compound relationships for DVL1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glycogen	62	6	10617280 (1), 10944533 (1), 10647780 (1), 11742073 (1) (see all 5)
h2o2	0	1	15279902 (1)

Search CenterWatch for drugs/clinical trials and news about DVL1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for DVL1 gene (3 alternative transcripts):

NM_004421.2 NM_181870.1 NM_182779.3

Unigene Cluster for DVL1:

Dishevelled, dsh homolog 1 (Drosophila)

Hs.731450 [show with all ESTs]

Unigene Representative Sequence: NM_004421

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000378891(uc009vka.3 uc001aer.4) ENST00000378888(uc002quu.3 uc001aeu.1)

ENST00000472445

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DVL1
		7 QIAGEN miScript miRNA Assays for microRNAs that regulate DVL1:
		hsa-miR-3163 hsa-miR-466 hsa-miR-4255 hsa-miR-139-5p hsa-miR-4282 hsa-miR-3941 hsa-miR-646
		SwitchGear 3'UTR luciferase reporter plasmid: DVL1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DVL1

Clone Products:		OriGene clones in human, mouse for DVL1 (see all 12) OriGene ORF clones in mouse, rat for DVL1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: DVL1 (NM_004421)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DVL1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DVL1
		Sirion Biotech Customized lentivirus for stable overexpression of DVL1 Customized lentivirus expression plasmids for stable overexpression of DVL1

Primer Products:		OriGene qPCR primer pairs and template standards for DVL1 OriGene qSTAR qPCR primer pairs in human, mouse for DVL1
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat DVL1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DVL1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DVL1

Additional mRNA sequence:

AF006011.1 AK093189.1 AK293286.1 AK300063.1 BC017225.2 BC025292.1 BC050454.1 BC111419.1

11 DOTS entries:

DT.113126 DT.92435722 DT.92435732 DT.100820977 DT.100673315 DT.95199508 DT.95199483 DT.100820980

DT.91879999 DT.100820983 DT.100820981

24/204 AceView cDNA sequences (see all 204):

BM713331 AI567536 AK093189 CR616573 AA576965 BQ083047 BM544722 BE502662

BQ216870 AJ346388 NM_004421 AA827635 CF132269 BM847934 AA693493 AX747980

CA771237 BQ063137 BM791705 AI989823 BM844463 AI624002 NM_181870 BM562918

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for DVL1 (see all 10) About this scheme

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:															-		-		-		-		-		-		-		-		-		-		-		-		-		-		-								-

ExUns:	16	^	17a	·	17b
SP1:	-
SP2:
SP3:	-
SP4:
SP5:	-

ECgene alternative splicing isoforms for DVL1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

DVL1 expression in normal human tissues (normalized intensities) DVL1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GCCCGCAGGG

About this image

DVL1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/32 selected tissues (see all 32) fully expand


Brain (Nervous System) fully expand to see all 9 entries
Cerebral Cortex
brain/midbrain

Epithelium (Reproductive System) fully expand to see all 5 entries
vagina ; squamous epithelial cells

Testis (Reproductive System) fully expand to see all 3 entries
Leydig Cells Testis Interstitium
seminal vesicle ; glandular cells

Tonsil (Hematopoietic System) fully expand to see all 3 entries
tonsil ; squamous epithelial cells

Uterus
uterus, post-menopause ; glandular cells

See DVL1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DVL1

SOURCE GeneReport for Unigene cluster: Hs.731450

SABiosciences Expression via Pathway-Focused PCR Arrays including DVL1:

Primary Cilia in human mouse rat

WNT Signaling Pathway in human mouse rat

Notch Signaling Pathway in human mouse rat

Stem Cells in human mouse rat

Primer Products:		OriGene qPCR primer pairs and template standards for DVL1 OriGene qSTAR qPCR primer pairs in human, mouse for DVL1
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat DVL1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DVL1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DVL1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DVL1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for DVL1 gene from 6/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Dvl1^{1 , 5}	dishevelled, dsh homolog 1 (Drosophila)^{1, 5}	87.29(n)¹ 94.92(a)¹		4 (87.61 cM)⁵ 13542¹ NM_010091.3¹ NP_034221.3¹ 155847402⁵
chicken (Gallus gallus)	Aves	DVL1¹	dishevelled, dsh homolog 1 (Drosophila)	74.26(n) 83.93(a)		419416 XM_003642523.1 XP_003642571.1
lizard (Anolis carolinensis)	Reptilia	DVL1⁶	Uncharacterized protein	77(a)	1 ↔ 1	GL343760.1(4475-60602)
zebrafish (Danio rerio)	Actinopterygii	dvl1b¹	dishevelled, dsh homolog 1b (Drosophila)	67.27(n) 73.79(a)		560032 NM_001044917.1 NP_001038382.1
fruit fly (Drosophila melanogaster)	Insecta	dsh³	cell motility Notch binding	64(a)		--
worm (Caenorhabditis elegans)	Secernentea	T05C12.6c³	presynaptic density protein (PSD-95) repeat-like domain less	29(a)		II(8182431-8184930) --

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for DVL1 gene

DVL2² DVL3² DIXDC1²

5 SIMAP similar genes for DVL1 using alignment to 3 protein entries: DVL1_HUMAN (see all proteins):

DVL1P1 DKFZp586M1622 DVL3 DLG4 DVL2

DVL1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs35915703^1,2	C,F	--	1269467(-)	`TGCCCG/CGTCCA`	1	--	us2k¹		1		NA	2
rs192910940^1,2		--	1269507(+)	`TGGACC/GGGGCA`	1	--	us2k¹		0	--	--	--	--
rs184571809^1,2		--	1269520(+)	`AGCGAC/TGGGGG`	1	--	us2k¹		0	--	--	--	--
rs113488343^1,2	F	--	1269552(+)	`GGGGCT/AGGAGC`	1	--	us2k¹		1		CSA	1
rs180738781^1,2		--	1269559(+)	`GAGCGA/GCGGGG`	1	--	us2k¹		0	--	--	--	--
rs35104845^1,2	C,F	--	1269560(-)	`CCCCCA/GTCGCT`	1	--	us2k¹		2		NA	4
rs61766214^1,2	C	--	1269587(+)	`TGGACC/GGGGCT`	1	--	us2k¹		4		NA	8
rs34380086^1,2	C	--	1269663(-)	`GATGCG/CAGTTC`	1	--	us2k¹		11		NA WA CSA EA	373
rs307379^1,2	C	--	1269733(+)	`GCACCG/AGTGCT`	1	--	us2k¹		10		NA EA WA CSA	265
rs144305273^1,2		--	1269777(+)	`GCACCC/GGGGCT`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for DVL1 (1270656 - 1284730 bp)

Structural Variations
Database of Genomic Variants (DGV) 10/26 variations for DVL1 (see all 26): About this table

Variant ID	Type	Subtype	PubMed ID
esv2746363	CNV	Deletion	23290073
dgv17n71	CNV	Loss	21882294
nsv470680	CNV	Loss	18288195
nsv870639	CNV	Loss	21882294
dgv29n71	CNV	Loss	21882294
nsv482937	CNV	Loss	15286789
dgv39n71	CNV	Loss	21882294
dgv12n71	CNV	Loss	21882294
dgv25n71	CNV	Loss	21882294
dgv19n71	CNV	Loss	21882294

SABiosciences Cancer Mutation PCR Assays

1 SABiosciences qBiomarker Copy Number PCR Array containing DVL1:

WNT Signaling

SeqTarget long-range PCR primers for resequencing DVL1

DNA2.0 Custom Variant and Variant Library Synthesis for DVL1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 601365 OMIM disorders: --

20/25 diseases for DVL1 (see all 25): About MalaCards

charcot-marie-tooth disease type 2a dentatorubral-pallidoluysian atrophy double outlet right ventricle charcot-marie-tooth disease

charcot-marie-tooth disease type 2 tooth disease familial adenomatous polyposis nephronophthisis

cervical squamous cell carcinoma digeorge syndrome neural tube defects basal cell carcinoma

conjunctivitis cervicitis astrocytoma osteosarcoma

squamous cell carcinoma colorectal cancer cerebritis lung cancer

DVL1 for disorders About GeneDecksing

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

5 Novoseek inferred disease relationships for DVL1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
familial adenomatous polyposis	71.7	6	10617280 (1), 11818547 (1), 10944533 (1), 18662704 (1) (see all 5)
cancer	25.8	2	12824876 (1), 12883684 (1)
tumors	13.8	2	19576519 (1), 12824876 (1)
cervical cancer	9.73	1	16457155 (1)
breast cancer	0	2	12824876 (2)

Genetic Association Database (GAD): DVL1
Human Genome Epidemiology (HuGE) Navigator: DVL1 (4 documents)

Export disorders for DVL1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for DVL1 gene, integrated from 9 sources (see all 107):
(articles sorted by number of sources associating them with DVL1)

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Identification of genomic organisation, sequence variants and analysis of the role of the human dishevelled 1 gene in late onset Alzheimer's disease. (PubMed id 11803455)^{1, 4, 9} Russ C....Powell J.F. (2002)
beta-Arrestin1 modulates lymphoid enhancer factor transcriptional activity through interaction with phosphorylated dishevelled proteins. (PubMed id 11742073)^{1, 2, 9} Chen W.... Miller W.E. (2001)
Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)^{1, 4} Jugessur A....Murray J.C. (2010)
High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)^{1, 4} Yerges L.M....Zmuda J.M. (2009)
Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways. (PubMed id 15852005)^{1, 2} Simons M.... Walz G. (2005)
Mammalian Ryk is a Wnt coreceptor required for stimulation of neurite outgrowth. (PubMed id 15454084)^{1, 2} Lu W....Baltimore D. (2004)
Identification and characterization of a novel Dvl-binding protein that suppresses Wnt signalling pathway. (PubMed id 14750955)^{1, 2} Oshita A.... Kikuchi A. (2003)
Human dishevelled genes constitute a DHR-containing multigene family. (PubMed id 9192851)^{1, 2} Semenov M.V. and Snyder M. (1997)
cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene. (PubMed id 8817329)^{1, 3} Pizzuti A.... Dallapiccola B. (1996)
Differential mediation of the Wnt canonical pathway by mammalian Dishevelleds-1, -2, and -3. (PubMed id 18093802)^{1, 9} Lee Y.N....Wang H.Y. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 1855	HGNC: 3084	AceView: DVL1	Ensembl:ENSG00000107404	euGenes: HUgn1855
ECgene: DVL1	Kegg: 1855	H-InvDB: DVL1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for DVL1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for DVL1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for DVL1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for DVL1 gene:
Search GeneIP for patents involving DVL1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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DVL1 Gene

Dishevelled Segment Polarity Protein 1

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DVL1 Gene

Dishevelled Segment Polarity Protein 1

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