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FLASH GENE

Symbol

CELSR1

contributors: mct/pgu - updated : 17-09-2010

HGNC name	cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila)
HGNC id	1850

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	176.34 kb     35 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure

two large exons for the ecto domain

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014246 35 - 11389 NP_055061 329.5 3014 - 1999 10380929

EXPRESSION

Type

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 Digestive intestine large intestine       Nervous brain         Reproductive female system breast       Respiratory lung

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	early embryogenesis

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminus,a block of cadherin repeats followed by seven EGF-like repeats,interrupted by two laminin AG type repeats
	seven transmembrane segments (7TM)

HOMOLOGY

Homologene

FAMILY	G-protein coupled receptor 2 family
	atypical cadherin, protocadherin family
	LN-TM7 subfamily

CATEGORY

adhesion , receptor membrane G

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions
	helps to specify the direction of facial branchiomotor neurons migration
	required for lung epithelial tube formation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

planar cell polarity signaling pathway

a component

INTERACTION

DNA

RNA

small molecule

protein

homotypic intracellular interactions of CELSR1 are required to recruit VANGL2 and FZD6 to sites of cell-cell contact

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 22qter-syndrome

Susceptibility

to ischemic stroke to craniorachischisis (CRN)

Variant & Polymorphism SNP , other	rs6007897 (A-->G, Thr2268Ala) and rs4044210 (A-->G, Ile2107Val)rs6007897 (A-->G, Thr2268Ala) and rs4044210 (A-->G, Ile2107Val) were significantly associated with ischemic stroke
	missense variants in CELSR1 may represent a cause of CRN

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS