Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CRELD1 contributors: mct - updated : 17-11-2012
HGNC name cysteine-rich with EGF-like domains 1
HGNC id 14630
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
Physical map
LOC391508 3 similar to Phosphoglycerate mutase 1 (Phosphoglycerate mutase isozyme B) (PGAM-B) (BPG-dependent PGAM 1) DKFZP434F091 3p25.3 DKFZP434F091 protein FLJ10707 3p25.3 hypothetical protein FLJ10707 LOC375323 3p25.3 lipoma HMGIC fusion partner-like protein 4 FLJ22405 3p26 hypothetical protein FLJ22405 LOC151835 3p25.3 copine family member BRPF1 3p26-p25 bromodomain and PHD finger containing, 1 OGG1 3p26.2 8-oxoguanine DNA glycosylase CAMK1 3p25.2 calcium/calmodulin-dependent protein kinase I TADA3L 3p25.3 transcriptional adaptor 3 (NGG1 homolog, yeast)-like ARPC4 3p25.3-p24.1 actin related protein 2/3 complex, subunit 4, 20kDa LOC389093 3 similar to RIKEN cDNA 4833441J24 DKFZP434B103 MGC29784 3p25.3 hypothetical protein MGC29784 CIDE-3 3p25.3 cell death activator CIDE-3 GL009 3p25.2 hypothetical protein GL009 IL17RE 3p25.3 interleukin 17 receptor E IL17RC 3p25.3 interleukin 17 receptor C CRELD1 3p25.3 cysteine-rich with EGF-like domains 1 FLJ33674 3p25.3 hypothetical protein FLJ33674 LOC55831 3p25.3 30 kDa protein HCP10 3p25.3 cytochrome c, somatic pseudogene LOC389094 3 LOC389094 CICE 3p25.3 cell death-inducing CIDE-like effector pseudogene FANCD2 3p25.3 Fanconi anemia, complementation group D2 HCP11 3p25.3 cytochrome c, somatic pseudogene MGC40179 3p25.3 hypothetical protein MGC40179 MDS027 3p25.3 uncharacterized hematopoietic stem/progenitor cells protein MDS027 VHL 3p26-p25 von Hippel-Lindau syndrome IRAK2 3p25.3 interleukin-1 receptor-associated kinase 2 KIAA0218 3p25.3 interleukin-1 receptor-associated kinase 2 NAG73 3p26-p25 NPC-related protein NAG73 GHRL 3p26-p25 NPC-related protein NAG73 SEC13L1 3p25-p24 SEC13-like 1 (S. cerevisiae) ATP2B2 3p25-p24 ATPase, Ca++ transporting, plasma membrane 2
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 - 2406 45.9 422 - 2002 12137942
10 - 2723 45.4 420 - 2002 12137942
12 - 2212 - 420 - 2002 12137942
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineneuroendocrinepituitary  highly
Reproductivefemale systemplacenta  highly
 female systemuteruscervix highly
 male systemprostate   
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein 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