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
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