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P54792

- DVLP1_HUMAN

UniProt

P54792 - DVLP1_HUMAN

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Protein

Putative segment polarity protein dishevelled homolog DVL1P1

Gene

DVL1P1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Protein uncertaini

Functioni

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

GO - Biological processi

  1. heart development Source: BHF-UCL
  2. intracellular signal transduction Source: InterPro
  3. Wnt signaling pathway Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Wnt signaling pathway

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:DVL1P1
Synonyms:DVL, DVL1, DVL1L1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Unplaced

Organism-specific databases

HGNCiHGNC:3085. DVL1P1.

Subcellular locationi

Cytoplasm Curated

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 670670Putative segment polarity protein dishevelled homolog DVL1P1PRO_0000145741Add
BLAST

Proteomic databases

PaxDbiP54792.
PRIDEiP54792.

PTM databases

PhosphoSiteiP54792.

Expressioni

Tissue specificityi

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

Gene expression databases

CleanExiHS_DVL1.
GenevestigatoriP54792.

Organism-specific databases

HPAiCAB011538.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
APCP250542EBI-7848109,EBI-727707

Protein-protein interaction databases

IntActiP54792. 3 interactions.
MINTiMINT-7890913.

Structurei

3D structure databases

ProteinModelPortaliP54792.
SMRiP54792. Positions 3-83, 248-337, 381-474.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1 – 8585DIXPROSITE-ProRule annotationAdd
BLAST
Domaini251 – 32373PDZPROSITE-ProRule annotationAdd
BLAST
Domaini400 – 47475DEPPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi221 – 2244Poly-Arg

Sequence similaritiesi

Belongs to the DSH family.Curated
Contains 1 DEP domain.PROSITE-ProRule annotation
Contains 1 DIX domain.PROSITE-ProRule annotation
Contains 1 PDZ (DHR) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG322275.
HOGENOMiHOG000017084.
HOVERGENiHBG005542.
InParanoidiP54792.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
2.30.42.10. 1 hit.
InterProiIPR000591. DEP_dom.
IPR024580. Dishevelled_C-dom.
IPR008339. Dishevelled_fam.
IPR003351. Dishevelled_protein_dom.
IPR001158. DIX.
IPR015506. Dsh/Dvl-rel.
IPR008340. DVL-1.
IPR001478. PDZ.
IPR029071. Ubiquitin-rel_dom.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PANTHERiPTHR10878. PTHR10878. 1 hit.
PTHR10878:SF5. PTHR10878:SF5. 1 hit.
PfamiPF00610. DEP. 1 hit.
PF02377. Dishevelled. 1 hit.
PF00778. DIX. 1 hit.
PF12316. Dsh_C. 1 hit.
PF00595. PDZ. 1 hit.
[Graphical view]
PRINTSiPR01760. DISHEVELLED.
SMARTiSM00021. DAX. 1 hit.
SM00049. DEP. 1 hit.
SM00228. PDZ. 1 hit.
[Graphical view]
SUPFAMiSSF50156. SSF50156. 1 hit.
SSF54236. SSF54236. 1 hit.
PROSITEiPS50186. DEP. 1 hit.
PS50841. DIX. 1 hit.
PS50106. PDZ. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform Long (identifier: P54792-1) [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 LVLVEGAHSD AGSQGTDSHT
110 120 130 140 150
DLPPPLERTG GIGDSRSPSF QPDVASSRDG MDNETGTESM VSHRRDRARR
160 170 180 190 200
RNREEAARTN GHPRGDRRRD VGLPPDSAST ALSSELESSS FVDSDEDDST
210 220 230 240 250
SRLSSSTEQS TSSRLIRKHK RRRRKQRLRQ ADRASSFSSM TDSTMSLNII
260 270 280 290 300
TVTLNMERHH FLGICIVGQS NDRGDGGIYI GSIMKGGAVA ADGRIEPGDM
310 320 330 340 350
LLQVNDVNFE NMSNDDAVRV LREIVSQTGP ISLTVAKCWD PTPRSYFTVP
360 370 380 390 400
RPDPVRPIDP AAWLSHTAAL TGALPRPQLE EAPLTVESDM NTVVRVMQLP
410 420 430 440 450
DSGLEIRDRM WLKITIANAV IGADVVDWLY THVEGFKERR EARKYASSLL
460 470 480 490 500
KHGFLRHTVN KITFSEQCYY VFGDLCSNLA TLNLNSGSSG TSDQDTLAPL
510 520 530 540 550
PHPAAPWPLG QGYPYQYPGP PPCFPPAYQD PGFSYGSGST GSQQSEGSKS
560 570 580 590 600
SGSTRNTLRP PACEKERRAA GSGDSDSESD HTAPSGVGSS WRERPADQLS
610 620 630 640 650
RGSSPRSQAS SYAPGLPPPH PTTKAYTVVG GPPGGPPVRE LAAVPPELTG
660 670
SRQSFQKAMG NPCEFFVDIM
Length:670
Mass (Da):73,254
Last modified:October 1, 1996 - v1
Checksum:i81AAD1712DBB09D4
GO
Isoform Short (identifier: P54792-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:662
Mass (Da):72,427
Checksum:i735B56FFC6E95F1D
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei479 – 4868Missing in isoform Short. 1 PublicationVSP_001320

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U46461 mRNA. Translation: AAC50682.1.
UniGeneiHs.731450.

Polymorphism databases

DMDMi1706528.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U46461 mRNA. Translation: AAC50682.1 .
UniGenei Hs.731450.

3D structure databases

ProteinModelPortali P54792.
SMRi P54792. Positions 3-83, 248-337, 381-474.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi P54792. 3 interactions.
MINTi MINT-7890913.

PTM databases

PhosphoSitei P54792.

Polymorphism databases

DMDMi 1706528.

Proteomic databases

PaxDbi P54792.
PRIDEi P54792.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Organism-specific databases

GeneCardsi GC22M019241.
H-InvDB HIX0000023.
HGNCi HGNC:3085. DVL1P1.
HPAi CAB011538.
MIMi 601225. gene.
neXtProti NX_P54792.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG322275.
HOGENOMi HOG000017084.
HOVERGENi HBG005542.
InParanoidi P54792.

Miscellaneous databases

PROi P54792.
SOURCEi Search...

Gene expression databases

CleanExi HS_DVL1.
Genevestigatori P54792.

Family and domain databases

Gene3Di 1.10.10.10. 1 hit.
2.30.42.10. 1 hit.
InterProi IPR000591. DEP_dom.
IPR024580. Dishevelled_C-dom.
IPR008339. Dishevelled_fam.
IPR003351. Dishevelled_protein_dom.
IPR001158. DIX.
IPR015506. Dsh/Dvl-rel.
IPR008340. DVL-1.
IPR001478. PDZ.
IPR029071. Ubiquitin-rel_dom.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view ]
PANTHERi PTHR10878. PTHR10878. 1 hit.
PTHR10878:SF5. PTHR10878:SF5. 1 hit.
Pfami PF00610. DEP. 1 hit.
PF02377. Dishevelled. 1 hit.
PF00778. DIX. 1 hit.
PF12316. Dsh_C. 1 hit.
PF00595. PDZ. 1 hit.
[Graphical view ]
PRINTSi PR01760. DISHEVELLED.
SMARTi SM00021. DAX. 1 hit.
SM00049. DEP. 1 hit.
SM00228. PDZ. 1 hit.
[Graphical view ]
SUPFAMi SSF50156. SSF50156. 1 hit.
SSF54236. SSF54236. 1 hit.
PROSITEi PS50186. DEP. 1 hit.
PS50841. DIX. 1 hit.
PS50106. PDZ. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  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.

Entry informationi

Entry nameiDVLP1_HUMAN
AccessioniPrimary (citable) accession number: P54792
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: October 29, 2014
This is version 128 of the entry and version 1 of the sequence. [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

Miscellaneous

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

Caution

Product of a dubious gene prediction. Pizzuti et al (PubMed:8644734) identified this gene on chromosome 22, however it is not currently present in the reference genome assembly (GRCh37/hg19).1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3