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Description for Protein CRELD1

cysteine-rich with EGF-like domains 1
9 total interacting proteins; 5 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 2/0)
(membrane: 1; platelet: 6)
Summary:
This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants. (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • EGFL: EGF domain, unclasssified subfamily
  • EGFCA: Calcium-binding EGF-like domain
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Cirrin; AVSD2; DKFZP566D213; Atrioventricular septal defect 2; Cysteine-rich with EGF-like domains 1 isoform 1; Cysteine-rich with EGF-like domains 1 isoform 2; Cysteine-rich with EGF-like domains 1 isoform 3
    Approved Symbol:
    CRELD1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Atrioventricular septal defect, partial, with heterotaxy syndrome(Pd);
  • Atrioventricular septal defect, susceptibility to, 2(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 2
  • Isoform 2 : 0
  • Isoform 1 : 2
    • Additional Identifiers:

    HPRD: 06206 Entrez Gene ID: 78987 OMIM ID: 607170 Swissprot Accession: Q96HD1;