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Description for Protein CRB1

crumbs homolog 1 (Drosophila)
2 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants. (PubMed Links)
Domains and Motifs:
  • EGFCA: Calcium-binding EGF-like domain
  • EGFL: EGF domain, unclasssified subfamily
  • TM: Transmembrane domain
  • LAMG: Laminin G domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    RP12; RP11-53I24.1; LCA8; Crumbs homolog 1 isoform II precursor
    Approved Symbol:
    CRB1
    (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:

  • Leber congenital amaurosis, type VIII(Pd);
  • Pigmented paravenous chorioretinal atrophy(Pd);
  • Retinitis pigmentosa 12(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 1
  • Isoform 1 : 2
    • Additional Identifiers:

    HPRD: 05019 Entrez Gene ID: 23418 OMIM ID: 604210 Swissprot Accession: P82279;