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Protein

Segment polarity protein dishevelled homolog DVL-3

Gene

DVL3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in the signal transduction pathway mediated by multiple Wnt genes.By similarity

GO - Molecular functioni

  • beta-catenin binding Source: BHF-UCL
  • frizzled binding Source: UniProtKB
  • protease binding Source: UniProtKB
  • protein heterodimerization activity Source: BHF-UCL
  • Rac GTPase binding Source: ParkinsonsUK-UCL
  • signaling receptor binding Source: BHF-UCL

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processWnt signaling pathway

Enzyme and pathway databases

ReactomeiR-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-201688 WNT mediated activation of DVL
R-HSA-4086400 PCP/CE pathway
R-HSA-4641258 Degradation of DVL
R-HSA-4641262 Disassembly of the destruction complex and recruitment of AXIN to the membrane
R-HSA-5368598 Negative regulation of TCF-dependent signaling by DVL-interacting proteins
R-HSA-5663220 RHO GTPases Activate Formins
SignaLinkiQ92997
SIGNORiQ92997

Protein family/group databases

MoonDBiQ92997 Predicted

Names & Taxonomyi

Protein namesi
Recommended name:
Segment polarity protein dishevelled homolog DVL-3
Short name:
Dishevelled-3
Alternative name(s):
DSH homolog 3
Gene namesi
Name:DVL3
Synonyms:KIAA0208
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000161202.17
HGNCiHGNC:3087 DVL3
MIMi601368 gene
neXtProtiNX_Q92997

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Robinow syndrome, autosomal dominant 3 (DRS3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Robinow syndrome, a rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, genital hypoplasia, renal anomalies, and costovertebral segmentation defects.
See also OMIM:616894

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi271R → K: Localizes to plasma membranes. 1 Publication1
Mutagenesisi342R → K: No effect on subcellular location. 1 Publication1
Mutagenesisi614R → K: Localizes to plasma membranes. 1 Publication1

Keywords - Diseasei

Dwarfism

Organism-specific databases

DisGeNETi1857
MalaCardsiDVL3
MIMi616894 phenotype
OpenTargetsiENSG00000161202
Orphaneti3107 Autosomal dominant Robinow syndrome
PharmGKBiPA27543

Chemistry databases

ChEMBLiCHEMBL6028

Polymorphism and mutation databases

BioMutaiDVL3
DMDMi6919875

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001457491 – 716Segment polarity protein dishevelled homolog DVL-3Add BLAST716

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei27Omega-N-methylarginine1 Publication1
Modified residuei48PhosphoserineCombined sources1
Modified residuei125PhosphoserineCombined sources1
Modified residuei192PhosphoserineCombined sources1 Publication1
Modified residuei212Omega-N-methylarginine1 Publication1
Modified residuei271Asymmetric dimethylarginine; by PRMT1; alternate1 Publication1
Modified residuei271Symmetric dimethylarginine; by PRMT7; alternate1 Publication1
Modified residuei342Omega-N-methylarginine; alternate2 Publications1
Modified residuei342Symmetric dimethylarginine; by PRMT7; alternate2 Publications1
Modified residuei346Phosphothreonine1 Publication1
Modified residuei614Symmetric dimethylarginine; by PRMT71 Publication1
Modified residuei697PhosphoserineCombined sources1
Modified residuei698Dimethylated arginine; alternate1 Publication1
Modified residuei698Omega-N-methylarginine; alternate1 Publication1
Modified residuei700Phosphoserine1 Publication1

Post-translational modificationi

Ubiquitinated. Deubiquitinated by CYLD, which acts on 'Lys-63'-linked ubiquitin chains.1 Publication
Phosphorylated by CSNK1D.2 Publications
Arginine methylation may function as a switch in regulation of function in Wnt signaling.2 Publications

Keywords - PTMi

Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ92997
MaxQBiQ92997
PaxDbiQ92997
PeptideAtlasiQ92997
PRIDEiQ92997
ProteomicsDBi75666

PTM databases

iPTMnetiQ92997
PhosphoSitePlusiQ92997

Expressioni

Gene expression databases

BgeeiENSG00000161202 Expressed in 231 organ(s), highest expression level in lower esophagus muscularis layer
CleanExiHS_DVL3
ExpressionAtlasiQ92997 baseline and differential
GenevisibleiQ92997 HS

Organism-specific databases

HPAiCAB046486
HPA058265

Interactioni

Subunit structurei

Interacts (via the PDZ domain) with the C-terminal regions of VANGL1 and VANGL2 (By similarity). Interacts (via the region containing both the PDZ and DEP domains) with LRRFIP2; the DIX domain may inhibit this interaction. Interacts with CYLD, CEP164 and DAB2. Interacts with DCDC2. Interacts with FOXK1 and FOXK2 (PubMed:25805136). Interacts with DAAM2 (By similarity).By similarity6 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108190, 100 interactors
DIPiDIP-34509N
IntActiQ92997, 189 interactors
MINTiQ92997
STRINGi9606.ENSP00000316054

Chemistry databases

BindingDBiQ92997

Structurei

3D structure databases

ProteinModelPortaliQ92997
SMRiQ92997
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 82DIXPROSITE-ProRule annotationAdd BLAST82
Domaini249 – 321PDZPROSITE-ProRule annotationAdd BLAST73
Domaini422 – 496DEPPROSITE-ProRule annotationAdd BLAST75

Sequence similaritiesi

Belongs to the DSH family.Curated

Phylogenomic databases

eggNOGiKOG3571 Eukaryota
ENOG410Y5G4 LUCA
GeneTreeiENSGT00390000013552
HOGENOMiHOG000017084
HOVERGENiHBG005542
InParanoidiQ92997
KOiK02353
OMAiTNQSDNC
OrthoDBiEOG091G041O
PhylomeDBiQ92997
TreeFamiTF318198

Family and domain databases

Gene3Di1.10.10.10, 1 hit
3.10.20.380, 1 hit
InterProiView protein in InterPro
IPR000591 DEP_dom
IPR024580 Dishevelled_C-dom
IPR008339 Dishevelled_fam
IPR003351 Dishevelled_protein_dom
IPR001158 DIX
IPR038207 DIX_dom_sf
IPR015506 Dsh/Dvl-rel
IPR008342 DVL3
IPR001478 PDZ
IPR036034 PDZ_sf
IPR029071 Ubiquitin-like_domsf
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PANTHERiPTHR10878 PTHR10878, 1 hit
PTHR10878:SF6 PTHR10878:SF6, 1 hit
PfamiView protein in Pfam
PF00610 DEP, 1 hit
PF02377 Dishevelled, 1 hit
PF00778 DIX, 1 hit
PF12316 Dsh_C, 1 hit
PF00595 PDZ, 1 hit
PRINTSiPR01760 DISHEVELLED
PR01763 DISHEVELLED3
SMARTiView protein in SMART
SM00021 DAX, 1 hit
SM00049 DEP, 1 hit
SM00228 PDZ, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
SSF50156 SSF50156, 1 hit
SSF54236 SSF54236, 1 hit
PROSITEiView protein in PROSITE
PS50186 DEP, 1 hit
PS50841 DIX, 1 hit
PS50106 PDZ, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q92997-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGETKIIYHL DGQETPYLVK LPLPAERVTL ADFKGVLQRP SYKFFFKSMD
60 70 80 90 100
DDFGVVKEEI SDDNAKLPCF NGRVVSWLVS AEGSHPDPAP FCADNPSELP
110 120 130 140 150
PPMERTGGIG DSRPPSFHPH AGGGSQENLD NDTETDSLVS AQRERPRRRD
160 170 180 190 200
GPEHATRLNG TAKGERRREP GGYDSSSTLM SSELETTSFF DSDEDDSTSR
210 220 230 240 250
FSSSTEQSSA SRLMRRHKRR RRKQKVSRIE RSSSFSSITD STMSLNIITV
260 270 280 290 300
TLNMEKYNFL GISIVGQSNE RGDGGIYIGS IMKGGAVAAD GRIEPGDMLL
310 320 330 340 350
QVNEINFENM SNDDAVRVLR EIVHKPGPIT LTVAKCWDPS PRGCFTLPRS
360 370 380 390 400
EPIRPIDPAA WVSHTAAMTG TFPAYGMSPS LSTITSTSSS ITSSIPDTER
410 420 430 440 450
LDDFHLSIHS DMAAIVKAMA SPESGLEVRD RMWLKITIPN AFIGSDVVDW
460 470 480 490 500
LYHNVEGFTD RREARKYASN LLKAGFIRHT VNKITFSEQC YYIFGDLCGN
510 520 530 540 550
MANLSLHDHD GSSGASDQDT LAPLPHPGAA PWPMAFPYQY PPPPHPYNPH
560 570 580 590 600
PGFPELGYSY GGGSASSQHS EGSRSSGSNR SGSDRRKEKD PKAGDSKSGG
610 620 630 640 650
SGSESDHTTR SSLRGPRERA PSERSGPAAS EHSHRSHHSL ASSLRSHHTH
660 670 680 690 700
PSYGPPGVPP LYGPPMLMMP PPPAAMGPPG APPGRDLASV PPELTASRQS
710
FRMAMGNPSE FFVDVM
Length:716
Mass (Da):78,055
Last modified:May 30, 2000 - v2
Checksum:iB1A55EBF9507D06E
GO
Isoform 2 (identifier: Q92997-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     350-367: SEPIRPIDPAAWVSHTAA → T

Note: No experimental confirmation available.
Show »
Length:699
Mass (Da):76,256
Checksum:iAD4CB18FDB88AA63
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WCF1F8WCF1_HUMAN
Segment polarity protein dishevelle...
DVL3
77Annotation score:
C9K0P9C9K0P9_HUMAN
Segment polarity protein dishevelle...
DVL3
220Annotation score:

Sequence cautioni

The sequence BAA13199 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti2G → D in AAB47447 (PubMed:8817329).Curated1
Sequence conflicti76S → Y in AAB84228 (PubMed:9344861).Curated1
Sequence conflicti102P → S in AAB47447 (PubMed:8817329).Curated1
Sequence conflicti151G → W in AAB47447 (PubMed:8817329).Curated1
Sequence conflicti182S → R in AAB47447 (PubMed:8817329).Curated1
Sequence conflicti218K → N in AAB47447 (PubMed:8817329).Curated1
Sequence conflicti222R → W in AAB47447 (PubMed:8817329).Curated1
Sequence conflicti230E → D in AAB47447 (PubMed:8817329).Curated1
Sequence conflicti233S → C in AAB47447 (PubMed:8817329).Curated1
Sequence conflicti236S → T in AAB47447 (PubMed:8817329).Curated1
Sequence conflicti239T → S in AAB47447 (PubMed:8817329).Curated1
Sequence conflicti242T → A in AAB47447 (PubMed:8817329).Curated1
Sequence conflicti303N → K in AAB47447 (PubMed:8817329).Curated1
Sequence conflicti431R → C in AAB47447 (PubMed:8817329).Curated1
Sequence conflicti450W → C in AAB47447 (PubMed:8817329).Curated1
Sequence conflicti465R → P in AAB47447 (PubMed:8817329).Curated1
Sequence conflicti472L → V in AAB47447 (PubMed:8817329).Curated1
Sequence conflicti543P → R in AAB65244 (PubMed:9192851).Curated1
Sequence conflicti553 – 554FP → LG in AAB65244 (PubMed:9192851).Curated2
Sequence conflicti629A → T in AAB47447 (PubMed:8817329).Curated1
Sequence conflicti633S → I in AAB47447 (PubMed:8817329).Curated1
Sequence conflicti682 – 716PPGRD…FVDVM → LRAATWPQCPRN in BAA13199 (PubMed:9039502).CuratedAdd BLAST35

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036116216R → T in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_025519433W → L1 PublicationCorresponds to variant dbSNP:rs17853048Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_053371350 – 367SEPIR…SHTAA → T in isoform 2. 1 PublicationAdd BLAST18

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U49262 mRNA Translation: AAB47447.1
U75651 mRNA Translation: AAB84228.1
AF006013 mRNA Translation: AAB65244.1
D86963 mRNA Translation: BAA13199.2 Different initiation.
AK304686 mRNA Translation: BAG65457.1
AC131235 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78295.1
CH471052 Genomic DNA Translation: EAW78296.1
BC032459 mRNA Translation: AAH32459.1
CCDSiCCDS3253.1 [Q92997-1]
PIRiJC5763
RefSeqiNP_004414.3, NM_004423.3 [Q92997-1]
UniGeneiHs.388116

Genome annotation databases

EnsembliENST00000313143; ENSP00000316054; ENSG00000161202 [Q92997-1]
ENST00000431765; ENSP00000405885; ENSG00000161202 [Q92997-2]
GeneIDi1857
KEGGihsa:1857
UCSCiuc003fms.4 human [Q92997-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U49262 mRNA Translation: AAB47447.1
U75651 mRNA Translation: AAB84228.1
AF006013 mRNA Translation: AAB65244.1
D86963 mRNA Translation: BAA13199.2 Different initiation.
AK304686 mRNA Translation: BAG65457.1
AC131235 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78295.1
CH471052 Genomic DNA Translation: EAW78296.1
BC032459 mRNA Translation: AAH32459.1
CCDSiCCDS3253.1 [Q92997-1]
PIRiJC5763
RefSeqiNP_004414.3, NM_004423.3 [Q92997-1]
UniGeneiHs.388116

3D structure databases

ProteinModelPortaliQ92997
SMRiQ92997
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108190, 100 interactors
DIPiDIP-34509N
IntActiQ92997, 189 interactors
MINTiQ92997
STRINGi9606.ENSP00000316054

Chemistry databases

BindingDBiQ92997
ChEMBLiCHEMBL6028

Protein family/group databases

MoonDBiQ92997 Predicted

PTM databases

iPTMnetiQ92997
PhosphoSitePlusiQ92997

Polymorphism and mutation databases

BioMutaiDVL3
DMDMi6919875

Proteomic databases

EPDiQ92997
MaxQBiQ92997
PaxDbiQ92997
PeptideAtlasiQ92997
PRIDEiQ92997
ProteomicsDBi75666

Protocols and materials databases

DNASUi1857
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000313143; ENSP00000316054; ENSG00000161202 [Q92997-1]
ENST00000431765; ENSP00000405885; ENSG00000161202 [Q92997-2]
GeneIDi1857
KEGGihsa:1857
UCSCiuc003fms.4 human [Q92997-1]

Organism-specific databases

CTDi1857
DisGeNETi1857
EuPathDBiHostDB:ENSG00000161202.17
GeneCardsiDVL3
HGNCiHGNC:3087 DVL3
HPAiCAB046486
HPA058265
MalaCardsiDVL3
MIMi601368 gene
616894 phenotype
neXtProtiNX_Q92997
OpenTargetsiENSG00000161202
Orphaneti3107 Autosomal dominant Robinow syndrome
PharmGKBiPA27543
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3571 Eukaryota
ENOG410Y5G4 LUCA
GeneTreeiENSGT00390000013552
HOGENOMiHOG000017084
HOVERGENiHBG005542
InParanoidiQ92997
KOiK02353
OMAiTNQSDNC
OrthoDBiEOG091G041O
PhylomeDBiQ92997
TreeFamiTF318198

Enzyme and pathway databases

ReactomeiR-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-201688 WNT mediated activation of DVL
R-HSA-4086400 PCP/CE pathway
R-HSA-4641258 Degradation of DVL
R-HSA-4641262 Disassembly of the destruction complex and recruitment of AXIN to the membrane
R-HSA-5368598 Negative regulation of TCF-dependent signaling by DVL-interacting proteins
R-HSA-5663220 RHO GTPases Activate Formins
SignaLinkiQ92997
SIGNORiQ92997

Miscellaneous databases

ChiTaRSiDVL3 human
GeneWikiiDVL3
GenomeRNAii1857
PROiPR:Q92997
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000161202 Expressed in 231 organ(s), highest expression level in lower esophagus muscularis layer
CleanExiHS_DVL3
ExpressionAtlasiQ92997 baseline and differential
GenevisibleiQ92997 HS

Family and domain databases

Gene3Di1.10.10.10, 1 hit
3.10.20.380, 1 hit
InterProiView protein in InterPro
IPR000591 DEP_dom
IPR024580 Dishevelled_C-dom
IPR008339 Dishevelled_fam
IPR003351 Dishevelled_protein_dom
IPR001158 DIX
IPR038207 DIX_dom_sf
IPR015506 Dsh/Dvl-rel
IPR008342 DVL3
IPR001478 PDZ
IPR036034 PDZ_sf
IPR029071 Ubiquitin-like_domsf
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PANTHERiPTHR10878 PTHR10878, 1 hit
PTHR10878:SF6 PTHR10878:SF6, 1 hit
PfamiView protein in Pfam
PF00610 DEP, 1 hit
PF02377 Dishevelled, 1 hit
PF00778 DIX, 1 hit
PF12316 Dsh_C, 1 hit
PF00595 PDZ, 1 hit
PRINTSiPR01760 DISHEVELLED
PR01763 DISHEVELLED3
SMARTiView protein in SMART
SM00021 DAX, 1 hit
SM00049 DEP, 1 hit
SM00228 PDZ, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
SSF50156 SSF50156, 1 hit
SSF54236 SSF54236, 1 hit
PROSITEiView protein in PROSITE
PS50186 DEP, 1 hit
PS50841 DIX, 1 hit
PS50106 PDZ, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDVL3_HUMAN
AccessioniPrimary (citable) accession number: Q92997
Secondary accession number(s): B4E3E5
, D3DNT0, O14642, Q13531, Q8N5E9, Q92607
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 30, 2000
Last modified: November 7, 2018
This is version 185 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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