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Description for Protein RLBP1

retinaldehyde binding protein 1
2 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SEC14: Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Cellular retinaldehyde binding protein; CRALBP
    Approved Symbol:
    RLBP1
    (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):

  • Vitamin A(db)

    Associated Genetic Diseases:

  • Bothnia retinal dystrophy(Pd);
  • Newfoundland rod-cone dystrophy(Pd);
  • Retinitis pigmentosa, RLBP1-related(Pd);
  • Retinitis punctata Albescens(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01572 Entrez Gene ID: 6017 OMIM ID: 180090 Swissprot Accession: P12271;