Reviewed, UniProtKB/Swiss-Prot O14640 (DVL1_HUMAN)

Names and origin

Protein names

Recommended name:
    Segment polarity protein dishevelled homolog DVL-1
      Short name=Dishevelled-1
Alternative name(s):
    DSH homolog 1

Gene names

Name:

DVL1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	695 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	May play a role in the signal transduction pathway mediated by multiple Wnt genes.
Subunit structure	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.
Subcellular location	Cytoplasm Potential.
Post-translational modification	Ubiquitinated, leading to its subsequent degradation by the ubiquitin-proteasome. The interaction with INVS is required for ubiquitination.
Sequence similarities	Belongs to the DSH family. Contains 1 DEP domain. Contains 1 DIX domain. Contains 1 PDZ (DHR) domain.

Ontologies

Keywords
Biological process	Wnt signaling pathway
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing
Molecular function	Developmental protein
PTM	Ubl conjugation
Gene Ontology (GO)
Biological process	Wnt receptor signaling pathway through beta-catenin Inferred from direct assay. Source: UniProtKB dendrite morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB intracellular signaling cascade Inferred from electronic annotation. Source: InterPro negative regulation of protein kinase activity Inferred from direct assay. Source: UniProtKB neural tube development Inferred from expression pattern. Source: UniProtKB neuromuscular junction development Inferred from sequence or structural similarity. Source: UniProtKB neurotransmitter secretion Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of Wnt receptor signaling pathway Inferred from direct assay. Source: UniProtKB protein localization in nucleus Inferred from mutant phenotype. Source: UniProtKB receptor clustering Inferred from sequence or structural similarity. Source: UniProtKB
Cellular component	cytoplasmic membrane-bounded vesicle Inferred from sequence or structural similarity. Source: UniProtKB synapse Inferred from sequence or structural similarity. Source: UniProtKB synaptosome Inferred from sequence or structural similarity. Source: UniProtKB
Molecular function	identical protein binding Inferred from physical interaction. Source: UniProtKB signal transducer activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O14640-1)

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 2 (identifier: O14640-2)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 695	695	Segment polarity protein dishevelled homolog DVL-1		PRO_0000145742
Regions
	Domain	1 – 85	85	DIX
	Domain	251 – 323	73	PDZ
	Domain	425 – 499	75	DEP
	Compositional bias	221 – 224	4	Poly-Arg
Natural variations
	Alternative sequence	378 – 403	26	GTSPC…PGAPQ → E in isoform 2.		VSP_024460
Experimental info
	Sequence conflict	2	1	A → G in AAB65242. Ref.1
	Sequence conflict	157	1	A → P in AAB65242. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 17, 2007. Version 2. Checksum: B009BDBCC57BD562	FASTA	695	75,187
	10 20 30 40 50 60 MAETKIIYHM DEEETPYLVK LPVAPERVTL ADFKNVLSNR PVHAYKFFFK SMDQDFGVVK 70 80 90 100 110 120 EEIFDDNAKL PCFNGRVVSW LVLAEGAHSD AGSQGTDSHT DLPPPLERTG GIGDSRPPSF 130 140 150 160 170 180 HPNVASSRDG MDNETGTESM VSHRRERARR RNREEAARTN GHPRGDRRRD VGLPPDSAST 190 200 210 220 230 240 ALSSELESSS FVDSDEDGST SRLSSSTEQS TSSRLIRKHK RRRRKQRLRQ ADRASSFSSI 250 260 270 280 290 300 TDSTMSLNIV TVTLNMERHH FLGISIVGQS NDRGDGGIYI GSIMKGGAVA ADGRIEPGDM 310 320 330 340 350 360 LLQVNDVNFE NMSNDDAVRV LREIVSQTGP ISLTVAKCWD PTPRSYFTVP RADPVRPIDP 370 380 390 400 410 420 AAWLSHTAAL TGALPRYGTS PCSSAVTRTS SSSLTSSVPG APQLEEAPLT VKSDMSAVVR 430 440 450 460 470 480 VMQLPDSGLE IRDRMWLKIT IANAVIGADV VDWLYTHVEG FKERREARKY ASSLLKHGFL 490 500 510 520 530 540 RHTVNKITFS EQCYYVFGDL CSNLATLNLN SGSSGTSDQD TLAPLPHPAA PWPLGQGYPY 550 560 570 580 590 600 QYPGPPPCFP PAYQDPGFSY GSGSTGSQQS EGSKSSGSTR SSRRAPGREK ERRAAGAGGS 610 620 630 640 650 660 GSESDHTAPS GVGSSWRERP AGQLSRGSSP RSQASATAPG LPPPHPTTKA YTVVGGPPGG 670 680 690 PPVRELAAVP PELTGSRQSF QKAMGNPCEF FVDIM
	Isoform 2. Checksum: CF31534E784A80A2	FASTA	670	72,881
	10 20 30 40 50 60 MAETKIIYHM DEEETPYLVK LPVAPERVTL ADFKNVLSNR PVHAYKFFFK SMDQDFGVVK 70 80 90 100 110 120 EEIFDDNAKL PCFNGRVVSW LVLAEGAHSD AGSQGTDSHT DLPPPLERTG GIGDSRPPSF 130 140 150 160 170 180 HPNVASSRDG MDNETGTESM VSHRRERARR RNREEAARTN GHPRGDRRRD VGLPPDSAST 190 200 210 220 230 240 ALSSELESSS FVDSDEDGST SRLSSSTEQS TSSRLIRKHK RRRRKQRLRQ ADRASSFSSI 250 260 270 280 290 300 TDSTMSLNIV TVTLNMERHH FLGISIVGQS NDRGDGGIYI GSIMKGGAVA ADGRIEPGDM 310 320 330 340 350 360 LLQVNDVNFE NMSNDDAVRV LREIVSQTGP ISLTVAKCWD PTPRSYFTVP RADPVRPIDP 370 380 390 400 410 420 AAWLSHTAAL TGALPRYELE EAPLTVKSDM SAVVRVMQLP 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 SGSTRSSRRA PGREKERRAA GAGGSGSESD HTAPSGVGSS WRERPAGQLS 610 620 630 640 650 660 RGSSPRSQAS ATAPGLPPPH PTTKAYTVVG GPPGGPPVRE LAAVPPELTG SRQSFQKAMG 670 NPCEFFVDIM

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human dishevelled genes constitute a DHR-containing multigene family." Semenov M.V., Snyder M. Genomics 42:302-310(1997) [PubMed: 9192851] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[2]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"Identification and characterization of a novel Dvl-binding protein that suppresses Wnt signalling pathway." Oshita A., Kishida S., Kobayashi H., Michiue T., Asahara T., Asashima M., Kikuchi A. Genes Cells 8:1005-1017(2003) [PubMed: 14750955] [Abstract] Cited for: INTERACTION WITH CCDC88C.
[4]	"Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways." Simons M., Gloy J., Ganner A., Bullerkotte A., Bashkurov M., Kroenig C., Schermer B., Benzing T., Cabello O.A., Jenny A., Mlodzik M., Polok B., Driever W., Obara T., Walz G. Nat. Genet. 37:537-543(2005) [PubMed: 15852005] [Abstract] Cited for: INTERACTION WITH INVS.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF006011 mRNA. Translation: AAB65242.1. AL139287 Genomic DNA. Translation: CAI23185.1. AL139287 Genomic DNA. Translation: CAI23187.1.
IPI	IPI00023100. IPI00643229.
UniGene	Hs.74375
3D structure databases
HSSP	HSSP built from PDB template 1FSH based on UniProtKB P51141.
ModBase	Search...
Protein-protein interaction databases
IntAct	O14640. 1 interaction.
PTM databases
PhosphoSite	O14640.
Proteomic databases
PRIDE	O14640.
Genome annotation databases
Ensembl	ENSG00000107404. Homo sapiens. [Contig view]
Organism-specific databases
GeneCards	GC01M001261.
H-InvDB	HIX0000023.
HGNC	HGNC:3084. DVL1.
HPA	CAB011538.
MIM	601365. gene.
PharmGKB	PA27540.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	O14640.
OMA	O14640. SMLKHGF.
Enzyme and pathway databases
Pathway_Interaction_DB	wnt_canonical_pathway. Canonical Wnt signaling pathway. ps1pathway. Presenilin action in Notch and Wnt signaling.
Gene expression databases
ArrayExpress	O14640.
Bgee	O14640.
CleanEx	HS_DVL1.
GermOnline	ENSG00000107404. Homo sapiens.
Family and domain databases
InterPro	IPR008339. Dishevell. IPR003351. Dishevelled. IPR008340. Dishevelled_1. IPR001158. DIX. IPR015506. Dsh. IPR001478. PDZ/DHR/GLGF. IPR000591. Pleckstrin/G-protein_interact. IPR011991. Wing_hlx_DNA_bd. [Graphical view]
Gene3D	G3DSA:1.10.10.10. Wing_hlx_DNA_bd. 1 hit.
PANTHER	PTHR10878:SF5. Dishevelled_1. 1 hit. PTHR10878. Dsh. 1 hit.
Pfam	PF00610. DEP. 1 hit. PF02377. Dishevelled. 1 hit. PF00778. DIX. 1 hit. PF00595. PDZ. 1 hit. [Graphical view]
PRINTS	PR01760. DISHEVELLED. PR01761. DISHEVELLED1.
ProDom	PD003639. DIX. 1 hit. [Graphical view] [Entries sharing at least one domain]
SMART	SM00021. DAX. 1 hit. SM00049. DEP. 1 hit. SM00228. PDZ. 1 hit. [Graphical view]
PROSITE	PS50186. DEP. 1 hit. PS50841. DIX. 1 hit. PS50106. PDZ. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
SOURCE	Search...

Entry information

Entry name

DVL1_HUMAN

Accession

Primary (citable) accession number: O14640
Secondary accession number(s): Q5TA33, Q5TA35

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	April 17, 2007
Last modified:	June 16, 2009
This is version 89 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)