P54792 (DVL1L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Segment polarity protein dishevelled homolog DVL-1-like
Short name=Dishevelled-1-like

Alternative name(s):
DSH homolog 1-like

Gene names

Name:	DVL1L1
Synonyms:	DVL, 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	670 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

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	May be involved in the pathogenesis of DiGeorge syndrome (DGS).
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
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	heart development Non-traceable author statement Ref.1. Source: BHF-UCL intracellular signal transduction Inferred from electronic annotation. Source: InterPro
Molecular function	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 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 670	670	Segment polarity protein dishevelled homolog DVL-1-like		PRO_0000145741
Regions
	Domain	1 – 85	85	DIX
	Domain	251 – 323	73	PDZ
	Domain	400 – 474	75	DEP
	Compositional bias	221 – 224	4	Poly-Arg
Natural variations
	Alternative sequence	479 – 486	8	Missing in isoform Short.		VSP_001320

Sequences

	Sequence		Length	Mass (Da)
	Isoform Long [UniParc]. Last modified October 1, 1996. Version 1. Checksum: 81AAD1712DBB09D4	FASTA	670	73,254
	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
	Isoform Short [UniParc]. Checksum: 735B56FFC6E95F1D	FASTA	662	72,427
	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 VFGDLCSNGS 490 500 510 520 530 540 SGTSDQDTLA PLPHPAAPWP LGQGYPYQYP GPPPCFPPAY QDPGFSYGSG STGSQQSEGS 550 560 570 580 590 600 KSSGSTRNTL RPPACEKERR AAGSGDSDSE SDHTAPSGVG SSWRERPADQ LSRGSSPRSQ 610 620 630 640 650 660 ASSYAPGLPP PHPTTKAYTV VGGPPGGPPV RELAAVPPEL TGSRQSFQKA MGNPCEFFVD IM

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: 8644734] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT), 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.
IPI	IPI00008404. IPI00217316.
UniGene	Hs.74375.
3D structure databases
ProteinModelPortal	P54792.
SMR	P54792. Positions 3-83, 248-369, 381-474.
ModBase	Search...
Protein-protein interaction databases
STRING	P54792.
Polymorphism databases
DMDM	1706528.
Proteomic databases
PRIDE	P54792.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000378891; ENSP00000368169; ENSG00000107404.
Organism-specific databases
GeneCards	GC22M019240.
H-InvDB	HIX0000023.
HGNC	HGNC:3085. DVL1L1.
HPA	CAB011538.
MIM	601225. gene.
neXtProt	NX_P54792.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	HBG005542.
OrthoDB	EOG4640BS.
Gene expression databases
ArrayExpress	P54792.
Bgee	P54792.
CleanEx	HS_DVL1.
Genevestigator	P54792.
GermOnline	ENSG00000107404. Homo sapiens.
Family and domain databases
InterPro	IPR000591. DEP_dom. IPR008339. Dishevelled. IPR008340. Dishevelled_1. IPR024580. Dishevelled_C-dom. IPR003351. Dishevelled_protein_dom. IPR001158. DIX. IPR015506. Dsh. IPR001478. PDZ/DHR/GLGF. IPR011991. WHTH_trsnscrt_rep_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. PF12316. Dsh_C. 1 hit. PF00595. PDZ. 1 hit. [Graphical view]
PRINTS	PR01760. DISHEVELLED. PR01761. DISHEVELLED1.
SMART	SM00021. DAX. 1 hit. SM00049. DEP. 1 hit. SM00228. PDZ. 1 hit. [Graphical view]
SUPFAM	SSF50156. PDZ. 1 hit.
PROSITE	PS50186. DEP. 1 hit. PS50841. DIX. 1 hit. PS50106. PDZ. 1 hit. [Graphical view]
ProtoNet	Search...
Other
SOURCE	Search...

Entry information

Entry name

DVL1L_HUMAN

Accession

Primary (citable) accession number: P54792

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	October 1, 1996
Last modified:	January 25, 2012
This is version 103 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.