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FLASH GENE

Symbol

DVL1L1

contributors: - updated : 05-09-2007

HGNC name	dishevelled, dsh homolog 1 (Drosophila)-like 1
HGNC id	3085

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	22q11.21      Physical location : -
Synonym name	dishevelled 1-like 1 (homologous to Drosophila dsh)
	dishevelled 4 (homologous to Drosophila dsh)
Synonym symbol(s)	DVL-22, DVL, DSH, DVL1, DVL4, DVL-22

DNA

TYPE	functioning gene

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	two isoforms produced by alternative splicing

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed - - - 3200 - - - Pizzuti, 96 - - - 5000

EXPRESSION

Type

widely

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic thymus         Cardiovascular heart

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	several tissues

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	Dlg, Discs-large suppressor tumor protein (DHR/GLGZ/PDZ) motif
	PDZ domain may play an essential role in both pathways, and binds directly to Frizzled receptors

HOMOLOGY

interspecies	homolog to Drosophila dishevelled segment polarity-like gene
	homolog to C.elegans t05c12.6a

Homologene

FAMILY

DSH family

CATEGORY

regulatory , signaling growth factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION

transduces WNT signals from the receptor Frizzled (Fz) to downstream components in canonical and noncanonical WNT signaling pathways

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

Wnt signaling pathways involved in embryo development as well as in tumorigenesis

a component

key component of the WNT signaling and planar polarity pathways

INTERACTION

DNA

RNA

small molecule

protein

interacting with nucleoredoxin (NRX), a thioredoxin (TRX) family protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     in the Di George syndrome

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS