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FLASH GENE

Symbol

CRELD1

contributors: mct - updated : 17-11-2012

HGNC name	cysteine-rich with EGF-like domains 1
HGNC id	14630

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AVSD2 atrioventricular septal defect 2 DEL3PD chromosome 3p25 deletion syndrome
Location	3p25.3      Physical location : 9.975.523 - 9.987.095
Synonym name	cysteine-rich with EGF-like domain protein 1
Synonym symbol(s)	CIRRIN, DKFZP566D213, UNQ188/PRO214, AVSD2

DNA

TYPE	functioning gene
STRUCTURE	11.57 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_001031717 10 - 2406 NP_001026887 45.9 422 - 2002 12137942 NM_015513 10 - 2723 NP_056328 45.4 420 - 2002 12137942 NM_001077415 12 - 2212 NP_001070883 - 420 - 2002 12137942

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 Endocrine neuroendocrine pituitary     highly Reproductive female system placenta     highly   female system uterus cervix   highly   male system prostate       Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	lung, liver, kidney, developing heart, limb buds, mandible and central nervous system

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N-terminal signal sequence
	two type III transmembrane domains
	a short cytoplasmic loop
	a tandem array of EGF-like repeats
	a region rich in glutamate and tryptophan residues (WE domain)

conjugated

GlycoP

HOMOLOGY

interspecies

ortholog to murine Creld1

Homologene

FAMILY

member of a family of matricellular proteins

CATEGORY

adhesion

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	playing a role in valvuloseptal morphogenesis
	could partly change the localization of RTN3 from the endoplasmic reticulum to the plasma membrane and modulate the apoptotic activity of RTN3 through binding with it

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

COL6A1, COL6A2, CRELD1, FBLN2, FRZB, and GATA5 harboring purportedly deleterious case-specific variants in atrioventricular septal defects (AVSD)are associated in some way with VEGFA

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Ca2+

protein	bound with RTN3 so as to increase the localization of RTN3 on the plasma membrane and decreased the apoptotic activity of RTN3 moderately
	modulates cell response to VEGFA

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AVSD2 , DEL3PD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in ASD, VSD

Susceptibility

to atrioventricular septal defects

Variant & Polymorphism other	rs9878047 (c.1049-129T&
	8201;>&
	8201;C), rs3774207 (c.1119C&
	8201;>&
	8201;T), and rs73118372 (c.1136T&
	8201;>&
	8201;C) predispose Down syndrome and euploids individuals to atrioventricular septal defect

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS