DVLP1_HUMAN
ID DVLP1_HUMAN Reviewed; 670 AA.
AC P54792;
DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-1996, sequence version 1.
DT 25-MAY-2022, entry version 170.
DE RecName: Full=Putative segment polarity protein dishevelled homolog DVL1P1;
DE AltName: Full=DSH homolog 1-like;
DE AltName: Full=Segment polarity protein dishevelled homolog DVL-1-like;
DE Short=Dishevelled-1-like;
GN Name=DVL1P1; Synonyms=DVL, DVL1, DVL1L1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT), PUTATIVE INVOLVEMENT
RP IN DIGEORGE SYNDROME, AND TISSUE SPECIFICITY.
RC TISSUE=Brain, and Sympathetic ganglion;
RX PubMed=8644734;
RA Pizzuti A., Novelli G., Mari A., Ratti A., Colosimo A., Amati F., Penso D.,
RA Sangiuolo F., Calabrese G., Palka G., Silani V., Gennarelli M.,
RA Mingarelli R., Scarlato G., Scambler P., Dallapiccola B.;
RT "Human homologue sequences to the Drosophila dishevelled segment-polarity
RT gene are deleted in the DiGeorge syndrome.";
RL Am. J. Hum. Genet. 58:722-729(1996).
CC -!- FUNCTION: May play a role in the signal transduction pathway mediated
CC by multiple Wnt genes.
CC -!- INTERACTION:
CC P54792; P25054: APC; NbExp=2; IntAct=EBI-7848109, EBI-727707;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=Long;
CC IsoId=P54792-1; Sequence=Displayed;
CC Name=Short;
CC IsoId=P54792-2; Sequence=VSP_001320;
CC -!- TISSUE SPECIFICITY: Expressed in thymus, heart, liver, kidney, brain,
CC skeletal muscle, and pancreas. {ECO:0000269|PubMed:8644734}.
CC -!- MISCELLANEOUS: Part of that gene may be located in interstitial
CC deletions of chromosome 22 associated with DiGeorge syndrome (DGS).
CC -!- SIMILARITY: Belongs to the DSH family. {ECO:0000305}.
CC -!- CAUTION: Product of a dubious gene prediction. Pizzuti et al
CC (PubMed:8644734) identified this gene on chromosome 22, however it is
CC not currently present in the reference genome assembly (GRCh37/hg19).
CC {ECO:0000305|PubMed:8644734}.
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DR EMBL; U46461; AAC50682.1; -; mRNA.
DR AlphaFoldDB; P54792; -.
DR SMR; P54792; -.
DR IntAct; P54792; 6.
DR MINT; P54792; -.
DR iPTMnet; P54792; -.
DR PhosphoSitePlus; P54792; -.
DR BioMuta; HGNC:3085; -.
DR DMDM; 1706528; -.
DR jPOST; P54792; -.
DR MassIVE; P54792; -.
DR MaxQB; P54792; -.
DR PeptideAtlas; P54792; -.
DR PRIDE; P54792; -.
DR GeneCards; DVL1P1; -.
DR GeneReviews; DVL1; -.
DR HGNC; HGNC:3085; DVL1P1.
DR MIM; 601225; gene.
DR neXtProt; NX_P54792; -.
DR InParanoid; P54792; -.
DR PathwayCommons; P54792; -.
DR SignaLink; P54792; -.
DR SIGNOR; P54792; -.
DR Pharos; P54792; Tdark.
DR PRO; PR:P54792; -.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; P54792; protein.
DR GO; GO:0005829; C:cytosol; IBA:GO_Central.
DR GO; GO:0005109; F:frizzled binding; IBA:GO_Central.
DR GO; GO:0060070; P:canonical Wnt signaling pathway; IBA:GO_Central.
DR GO; GO:0007507; P:heart development; NAS:BHF-UCL.
DR GO; GO:0035556; P:intracellular signal transduction; IEA:InterPro.
DR GO; GO:0090179; P:planar cell polarity pathway involved in neural tube closure; IBA:GO_Central.
DR Gene3D; 1.10.10.10; -; 1.
DR Gene3D; 2.30.42.10; -; 1.
DR Gene3D; 2.40.240.130; -; 1.
DR InterPro; IPR000591; DEP_dom.
DR InterPro; IPR024580; Dishevelled_C-dom.
DR InterPro; IPR008339; Dishevelled_fam.
DR InterPro; IPR003351; Dishevelled_protein_dom.
DR InterPro; IPR001158; DIX.
DR InterPro; IPR038207; DIX_dom_sf.
DR InterPro; IPR015506; Dsh/Dvl-rel.
DR InterPro; IPR008340; DVL-1.
DR InterPro; IPR001478; PDZ.
DR InterPro; IPR036034; PDZ_sf.
DR InterPro; IPR029071; Ubiquitin-like_domsf.
DR InterPro; IPR036388; WH-like_DNA-bd_sf.
DR InterPro; IPR036390; WH_DNA-bd_sf.
DR PANTHER; PTHR10878; PTHR10878; 1.
DR PANTHER; PTHR10878:SF5; PTHR10878:SF5; 1.
DR Pfam; PF00610; DEP; 1.
DR Pfam; PF02377; Dishevelled; 1.
DR Pfam; PF00778; DIX; 1.
DR Pfam; PF12316; Dsh_C; 1.
DR Pfam; PF00595; PDZ; 1.
DR PRINTS; PR01760; DISHEVELLED.
DR SMART; SM00021; DAX; 1.
DR SMART; SM00049; DEP; 1.
DR SMART; SM00228; PDZ; 1.
DR SUPFAM; SSF46785; SSF46785; 1.
DR SUPFAM; SSF50156; SSF50156; 1.
DR SUPFAM; SSF54236; SSF54236; 1.
DR PROSITE; PS50186; DEP; 1.
DR PROSITE; PS50841; DIX; 1.
DR PROSITE; PS50106; PDZ; 1.
PE 5: Uncertain;
KW Alternative splicing; Cytoplasm; Developmental protein; Reference proteome;
KW Wnt signaling pathway.
FT CHAIN 1..670
FT /note="Putative segment polarity protein dishevelled
FT homolog DVL1P1"
FT /id="PRO_0000145741"
FT DOMAIN 1..85
FT /note="DIX"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00069"
FT DOMAIN 251..323
FT /note="PDZ"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00143"
FT DOMAIN 400..474
FT /note="DEP"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00066"
FT REGION 89..240
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 518..642
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 114..137
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 138..173
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 215..229
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 533..558
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 560..575
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 596..611
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 479..486
FT /note="Missing (in isoform Short)"
FT /evidence="ECO:0000303|PubMed:8644734"
FT /id="VSP_001320"
SQ SEQUENCE 670 AA; 73254 MW; 81AAD1712DBB09D4 CRC64;
MAETKIIYHM DEEETPYLVK LPVAPERVTL ADFKNVLSNR PVHAYKFFFK SMDQDFGVVK
EEIFDDNAKL PCFNGRVVSW LVLVEGAHSD AGSQGTDSHT DLPPPLERTG GIGDSRSPSF
QPDVASSRDG MDNETGTESM VSHRRDRARR RNREEAARTN GHPRGDRRRD VGLPPDSAST
ALSSELESSS FVDSDEDDST SRLSSSTEQS TSSRLIRKHK RRRRKQRLRQ ADRASSFSSM
TDSTMSLNII TVTLNMERHH FLGICIVGQS NDRGDGGIYI GSIMKGGAVA ADGRIEPGDM
LLQVNDVNFE NMSNDDAVRV LREIVSQTGP ISLTVAKCWD PTPRSYFTVP RPDPVRPIDP
AAWLSHTAAL TGALPRPQLE EAPLTVESDM NTVVRVMQLP DSGLEIRDRM WLKITIANAV
IGADVVDWLY THVEGFKERR EARKYASSLL KHGFLRHTVN KITFSEQCYY VFGDLCSNLA
TLNLNSGSSG TSDQDTLAPL PHPAAPWPLG QGYPYQYPGP PPCFPPAYQD PGFSYGSGST
GSQQSEGSKS SGSTRNTLRP PACEKERRAA GSGDSDSESD HTAPSGVGSS WRERPADQLS
RGSSPRSQAS SYAPGLPPPH PTTKAYTVVG GPPGGPPVRE LAAVPPELTG SRQSFQKAMG
NPCEFFVDIM
