Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P54792

- DVLP1_HUMAN

UniProt

P54792 - DVLP1_HUMAN

Protein

Putative segment polarity protein dishevelled homolog DVL1P1

Gene

DVL1P1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Protein uncertaini
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 1 (01 Oct 1996)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

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

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. signal transducer activity Source: InterPro

    GO - Biological processi

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

    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-SubCell

    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.

    Family and domain databases

    Gene3Di1.10.10.10. 1 hit.
    2.30.42.10. 1 hit.
    InterProiIPR000591. 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]
    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

    MAETKIIYHM DEEETPYLVK LPVAPERVTL ADFKNVLSNR PVHAYKFFFK    50
    SMDQDFGVVK EEIFDDNAKL PCFNGRVVSW LVLVEGAHSD AGSQGTDSHT 100
    DLPPPLERTG GIGDSRSPSF QPDVASSRDG MDNETGTESM VSHRRDRARR 150
    RNREEAARTN GHPRGDRRRD VGLPPDSAST ALSSELESSS FVDSDEDDST 200
    SRLSSSTEQS TSSRLIRKHK RRRRKQRLRQ ADRASSFSSM TDSTMSLNII 250
    TVTLNMERHH FLGICIVGQS NDRGDGGIYI GSIMKGGAVA ADGRIEPGDM 300
    LLQVNDVNFE NMSNDDAVRV LREIVSQTGP ISLTVAKCWD PTPRSYFTVP 350
    RPDPVRPIDP AAWLSHTAAL TGALPRPQLE EAPLTVESDM NTVVRVMQLP 400
    DSGLEIRDRM WLKITIANAV IGADVVDWLY THVEGFKERR EARKYASSLL 450
    KHGFLRHTVN KITFSEQCYY VFGDLCSNLA TLNLNSGSSG TSDQDTLAPL 500
    PHPAAPWPLG QGYPYQYPGP PPCFPPAYQD PGFSYGSGST GSQQSEGSKS 550
    SGSTRNTLRP PACEKERRAA GSGDSDSESD HTAPSGVGSS WRERPADQLS 600
    RGSSPRSQAS SYAPGLPPPH PTTKAYTVVG GPPGGPPVRE LAAVPPELTG 650
    SRQSFQKAMG NPCEFFVDIM 670
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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.

    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.
    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 ]
    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 1, 2014
    This is version 127 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