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P54792 (DVLP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified June 11, 2014. Version 126. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Putative segment polarity protein dishevelled homolog DVL1P1
Alternative name(s):
DSH homolog 1-like
Segment polarity protein dishevelled homolog DVL-1-like
Short name=Dishevelled-1-like
Gene names
Name:DVL1P1
Synonyms:DVL, DVL1, DVL1L1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length670 AA.
Sequence statusComplete.
Protein existenceUncertain

General annotation (Comments)

Function

May play a role in the signal transduction pathway mediated by multiple Wnt genes.

Subcellular location

Cytoplasm Potential.

Tissue specificity

Expressed in thymus, heart, liver, kidney, brain, skeletal muscle, and pancreas. Ref.1

Miscellaneous

Part of that gene may be located in interstitial deletions of chromosome 22 associated with DiGeorge syndrome (DGS).

Sequence similarities

Belongs to the DSH family.

Contains 1 DEP domain.

Contains 1 DIX domain.

Contains 1 PDZ (DHR) domain.

Caution

Product of a dubious gene prediction. Pizzuti et al (Ref.1) identified this gene on chromosome 22, however it is not currently present in the reference genome assembly (GRCh37/hg19).

Ontologies

Keywords
   Biological processWnt signaling pathway
   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processWnt signaling pathway

Inferred from electronic annotation. Source: UniProtKB-KW

heart development

Non-traceable author statement Ref.1. Source: BHF-UCL

intracellular signal transduction

Inferred from electronic annotation. Source: InterPro

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionprotein binding

Inferred from physical interaction PubMed 20224554. Source: IntAct

signal transducer activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

APCP250542EBI-7848109,EBI-727707

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform Long (identifier: P54792-1)

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.
Isoform Short (identifier: P54792-2)

The sequence of this isoform differs from the canonical sequence as follows:
     479-486: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 670670Putative segment polarity protein dishevelled homolog DVL1P1
PRO_0000145741

Regions

Domain1 – 8585DIX
Domain251 – 32373PDZ
Domain400 – 47475DEP
Compositional bias221 – 2244Poly-Arg

Natural variations

Alternative sequence479 – 4868Missing in isoform Short.
VSP_001320

Sequences

Sequence LengthMass (Da)Tools
Isoform Long [UniParc].

Last modified October 1, 1996. Version 1.
Checksum: 81AAD1712DBB09D4

FASTA67073,254
        10         20         30         40         50         60 
MAETKIIYHM DEEETPYLVK LPVAPERVTL ADFKNVLSNR PVHAYKFFFK SMDQDFGVVK 

        70         80         90        100        110        120 
EEIFDDNAKL PCFNGRVVSW LVLVEGAHSD AGSQGTDSHT DLPPPLERTG GIGDSRSPSF 

       130        140        150        160        170        180 
QPDVASSRDG MDNETGTESM VSHRRDRARR RNREEAARTN GHPRGDRRRD VGLPPDSAST 

       190        200        210        220        230        240 
ALSSELESSS FVDSDEDDST SRLSSSTEQS TSSRLIRKHK RRRRKQRLRQ ADRASSFSSM 

       250        260        270        280        290        300 
TDSTMSLNII TVTLNMERHH FLGICIVGQS NDRGDGGIYI GSIMKGGAVA ADGRIEPGDM 

       310        320        330        340        350        360 
LLQVNDVNFE NMSNDDAVRV LREIVSQTGP ISLTVAKCWD PTPRSYFTVP RPDPVRPIDP 

       370        380        390        400        410        420 
AAWLSHTAAL TGALPRPQLE EAPLTVESDM NTVVRVMQLP DSGLEIRDRM WLKITIANAV 

       430        440        450        460        470        480 
IGADVVDWLY THVEGFKERR EARKYASSLL KHGFLRHTVN KITFSEQCYY VFGDLCSNLA 

       490        500        510        520        530        540 
TLNLNSGSSG TSDQDTLAPL PHPAAPWPLG QGYPYQYPGP PPCFPPAYQD PGFSYGSGST 

       550        560        570        580        590        600 
GSQQSEGSKS SGSTRNTLRP PACEKERRAA GSGDSDSESD HTAPSGVGSS WRERPADQLS 

       610        620        630        640        650        660 
RGSSPRSQAS SYAPGLPPPH PTTKAYTVVG GPPGGPPVRE LAAVPPELTG SRQSFQKAMG 

       670 
NPCEFFVDIM 

« Hide

Isoform Short [UniParc].

Checksum: 735B56FFC6E95F1D
Show »

FASTA66272,427

References

[1]"Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome."
Pizzuti A., Novelli G., Mari A., Ratti A., Colosimo A., Amati F., Penso D., Sangiuolo F., Calabrese G., Palka G., Silani V., Gennarelli M., Mingarelli R., Scarlato G., Scambler P., Dallapiccola B.
Am. J. Hum. Genet. 58:722-729(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT), PUTATIVE INVOLVEMENT IN DIGEORGE SYNDROME, TISSUE SPECIFICITY.
Tissue: Brain and Sympathetic ganglion.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U46461 mRNA. Translation: AAC50682.1.
UniGeneHs.731450.

3D structure databases

ProteinModelPortalP54792.
SMRP54792. Positions 3-83, 248-337, 381-474.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActP54792. 3 interactions.
MINTMINT-7890913.

PTM databases

PhosphoSiteP54792.

Polymorphism databases

DMDM1706528.

Proteomic databases

PaxDbP54792.
PRIDEP54792.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Organism-specific databases

GeneCardsGC22M019241.
H-InvDBHIX0000023.
HGNCHGNC:3085. DVL1P1.
HPACAB011538.
MIM601225. gene.
neXtProtNX_P54792.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG322275.
HOGENOMHOG000017084.
HOVERGENHBG005542.

Gene expression databases

CleanExHS_DVL1.
GenevestigatorP54792.

Family and domain databases

Gene3D1.10.10.10. 1 hit.
2.30.42.10. 1 hit.
InterProIPR000591. DEP_dom.
IPR008340. Dishevelled_1.
IPR024580. Dishevelled_C-dom.
IPR008339. Dishevelled_fam.
IPR003351. Dishevelled_protein_dom.
IPR001158. DIX.
IPR015506. Dsh/Dvl-rel.
IPR001478. PDZ.
IPR029071. Ubiquitin-rel_dom.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PANTHERPTHR10878. PTHR10878. 1 hit.
PTHR10878:SF5. PTHR10878:SF5. 1 hit.
PfamPF00610. DEP. 1 hit.
PF02377. Dishevelled. 1 hit.
PF00778. DIX. 1 hit.
PF12316. Dsh_C. 1 hit.
PF00595. PDZ. 1 hit.
[Graphical view]
PRINTSPR01760. DISHEVELLED.
SMARTSM00021. DAX. 1 hit.
SM00049. DEP. 1 hit.
SM00228. PDZ. 1 hit.
[Graphical view]
SUPFAMSSF50156. SSF50156. 1 hit.
SSF54236. SSF54236. 1 hit.
PROSITEPS50186. DEP. 1 hit.
PS50841. DIX. 1 hit.
PS50106. PDZ. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

PROP54792.
SOURCESearch...

Entry information

Entry nameDVLP1_HUMAN
AccessionPrimary (citable) accession number: P54792
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: June 11, 2014
This is version 126 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM