Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Segment polarity protein dishevelled homolog DVL-1

Gene

DVL1

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

Functioni

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).

GO - Molecular functioni

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
SignaLinkiO14640
SIGNORiO14640

Names & Taxonomyi

Protein namesi
Recommended name:
Segment polarity protein dishevelled homolog DVL-1
Short name:
Dishevelled-1
Alternative name(s):
DSH homolog 1
Gene namesi
Name:DVL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000107404.17
HGNCiHGNC:3084 DVL1
MIMi601365 gene
neXtProtiNX_O14640

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

Cell membrane, Cytoplasm, Cytoplasmic vesicle, Membrane

Pathology & Biotechi

Involvement in diseasei

Robinow syndrome, autosomal dominant 2 (DRS2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, costovertebral segmentation defects, and renal anomalies.
See also OMIM:616331

Keywords - Diseasei

Dwarfism

Organism-specific databases

DisGeNETi1855
MalaCardsiDVL1
MIMi616331 phenotype
OpenTargetsiENSG00000107404
Orphaneti3107 Autosomal dominant Robinow syndrome
PharmGKBiPA27540

Chemistry databases

ChEMBLiCHEMBL6027

Polymorphism and mutation databases

BioMutaiDVL1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001457421 – 695Segment polarity protein dishevelled homolog DVL-1Add BLAST695

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei194PhosphoserineBy similarity1

Post-translational modificationi

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).By similarity

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiO14640
MaxQBiO14640
PaxDbiO14640
PeptideAtlasiO14640
PRIDEiO14640
ProteomicsDBi48138
48139 [O14640-2]

PTM databases

iPTMnetiO14640
PhosphoSitePlusiO14640

Expressioni

Gene expression databases

BgeeiENSG00000107404 Expressed in 231 organ(s), highest expression level in gastrocnemius
CleanExiHS_DVL1
ExpressionAtlasiO14640 baseline and differential
GenevisibleiO14640 HS

Organism-specific databases

HPAiCAB011538

Interactioni

Subunit structurei

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). Interacts (via PDZ domain) with TMEM88. Interacts with DCDC2. Interacts with FOXK2 (PubMed:25805136).By similarity7 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108188, 57 interactors
CORUMiO14640
DIPiDIP-40773N
IntActiO14640, 46 interactors
MINTiO14640
STRINGi9606.ENSP00000368169

Chemistry databases

BindingDBiO14640

Structurei

3D structure databases

ProteinModelPortaliO14640
SMRiO14640
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 85DIXPROSITE-ProRule annotationAdd BLAST85
Domaini251 – 323PDZPROSITE-ProRule annotationAdd BLAST73
Domaini425 – 499DEPPROSITE-ProRule annotationAdd BLAST75

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi221 – 224Poly-Arg4

Domaini

The DIX domain promotes homooligomerization.By similarity
The DEP domain mediates interaction with the cell membrane.By similarity

Sequence similaritiesi

Belongs to the DSH family.Curated

Phylogenomic databases

eggNOGiKOG3571 Eukaryota
ENOG410Y5G4 LUCA
GeneTreeiENSGT00390000013552
HOGENOMiHOG000017084
HOVERGENiHBG005542
InParanoidiO14640
KOiK02353
OMAiYPRYGMS
OrthoDBiEOG091G041O
PhylomeDBiO14640
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
IPR008340 DVL-1
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:SF5 PTHR10878:SF5, 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
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 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O14640-1) [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
MAETKIIYHM DEEETPYLVK LPVAPERVTL ADFKNVLSNR PVHAYKFFFK
60 70 80 90 100
SMDQDFGVVK EEIFDDNAKL PCFNGRVVSW LVLAEGAHSD AGSQGTDSHT
110 120 130 140 150
DLPPPLERTG GIGDSRPPSF HPNVASSRDG MDNETGTESM VSHRRERARR
160 170 180 190 200
RNREEAARTN GHPRGDRRRD VGLPPDSAST ALSSELESSS FVDSDEDGST
210 220 230 240 250
SRLSSSTEQS TSSRLIRKHK RRRRKQRLRQ ADRASSFSSI TDSTMSLNIV
260 270 280 290 300
TVTLNMERHH FLGISIVGQS NDRGDGGIYI GSIMKGGAVA ADGRIEPGDM
310 320 330 340 350
LLQVNDVNFE NMSNDDAVRV LREIVSQTGP ISLTVAKCWD PTPRSYFTVP
360 370 380 390 400
RADPVRPIDP AAWLSHTAAL TGALPRYGTS PCSSAVTRTS SSSLTSSVPG
410 420 430 440 450
APQLEEAPLT VKSDMSAVVR VMQLPDSGLE IRDRMWLKIT IANAVIGADV
460 470 480 490 500
VDWLYTHVEG FKERREARKY ASSLLKHGFL RHTVNKITFS EQCYYVFGDL
510 520 530 540 550
CSNLATLNLN SGSSGTSDQD TLAPLPHPAA PWPLGQGYPY QYPGPPPCFP
560 570 580 590 600
PAYQDPGFSY GSGSTGSQQS EGSKSSGSTR SSRRAPGREK ERRAAGAGGS
610 620 630 640 650
GSESDHTAPS GVGSSWRERP AGQLSRGSSP RSQASATAPG LPPPHPTTKA
660 670 680 690
YTVVGGPPGG PPVRELAAVP PELTGSRQSF QKAMGNPCEF FVDIM
Length:695
Mass (Da):75,187
Last modified:April 17, 2007 - v2
Checksum:iB009BDBCC57BD562
GO
Isoform 2 (identifier: O14640-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     378-403: GTSPCSSAVTRTSSSSLTSSVPGAPQ → E

Show »
Length:670
Mass (Da):72,881
Checksum:iCF31534E784A80A2
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WWA7A0A087WWA7_HUMAN
Segment polarity protein dishevelle...
DVL1
444Annotation score:
A0A0J9YWZ5A0A0J9YWZ5_HUMAN
Segment polarity protein dishevelle...
DVL1
251Annotation score:
A0A0J9YYK1A0A0J9YYK1_HUMAN
Segment polarity protein dishevelle...
DVL1
217Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti2A → G in AAB65242 (PubMed:9192851).Curated1
Sequence conflicti157A → P in AAB65242 (PubMed:9192851).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_024460378 – 403GTSPC…PGAPQ → E in isoform 2. 1 PublicationAdd BLAST26

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF006011 mRNA Translation: AAB65242.1
AL139287 Genomic DNA No translation available.
CCDSiCCDS22.1 [O14640-2]
CCDS81252.1 [O14640-1]
RefSeqiNP_001317240.1, NM_001330311.1 [O14640-1]
NP_004412.2, NM_004421.2 [O14640-2]
UniGeneiHs.731450

Genome annotation databases

EnsembliENST00000378888; ENSP00000368166; ENSG00000107404 [O14640-1]
ENST00000378891; ENSP00000368169; ENSG00000107404 [O14640-2]
GeneIDi1855
KEGGihsa:1855
UCSCiuc001aer.5 human [O14640-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF006011 mRNA Translation: AAB65242.1
AL139287 Genomic DNA No translation available.
CCDSiCCDS22.1 [O14640-2]
CCDS81252.1 [O14640-1]
RefSeqiNP_001317240.1, NM_001330311.1 [O14640-1]
NP_004412.2, NM_004421.2 [O14640-2]
UniGeneiHs.731450

3D structure databases

ProteinModelPortaliO14640
SMRiO14640
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108188, 57 interactors
CORUMiO14640
DIPiDIP-40773N
IntActiO14640, 46 interactors
MINTiO14640
STRINGi9606.ENSP00000368169

Chemistry databases

BindingDBiO14640
ChEMBLiCHEMBL6027

PTM databases

iPTMnetiO14640
PhosphoSitePlusiO14640

Polymorphism and mutation databases

BioMutaiDVL1

Proteomic databases

EPDiO14640
MaxQBiO14640
PaxDbiO14640
PeptideAtlasiO14640
PRIDEiO14640
ProteomicsDBi48138
48139 [O14640-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378888; ENSP00000368166; ENSG00000107404 [O14640-1]
ENST00000378891; ENSP00000368169; ENSG00000107404 [O14640-2]
GeneIDi1855
KEGGihsa:1855
UCSCiuc001aer.5 human [O14640-1]

Organism-specific databases

CTDi1855
DisGeNETi1855
EuPathDBiHostDB:ENSG00000107404.17
GeneCardsiDVL1
HGNCiHGNC:3084 DVL1
HPAiCAB011538
MalaCardsiDVL1
MIMi601365 gene
616331 phenotype
neXtProtiNX_O14640
OpenTargetsiENSG00000107404
Orphaneti3107 Autosomal dominant Robinow syndrome
PharmGKBiPA27540
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3571 Eukaryota
ENOG410Y5G4 LUCA
GeneTreeiENSGT00390000013552
HOGENOMiHOG000017084
HOVERGENiHBG005542
InParanoidiO14640
KOiK02353
OMAiYPRYGMS
OrthoDBiEOG091G041O
PhylomeDBiO14640
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
SignaLinkiO14640
SIGNORiO14640

Miscellaneous databases

GeneWikiiDVL1
GenomeRNAii1855
PROiPR:O14640
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000107404 Expressed in 231 organ(s), highest expression level in gastrocnemius
CleanExiHS_DVL1
ExpressionAtlasiO14640 baseline and differential
GenevisibleiO14640 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
IPR008340 DVL-1
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:SF5 PTHR10878:SF5, 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
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 nameiDVL1_HUMAN
AccessioniPrimary (citable) accession number: O14640
Secondary accession number(s): Q5TA33, Q5TA35
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: April 17, 2007
Last modified: November 7, 2018
This is version 191 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 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again