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Description for Protein AIPL1

aryl hydrocarbon receptor interacting protein-like 1
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram. The photoreceptor/pineal -expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, was mapped within the LCA4 candidate region. The protein contains three tetratricopeptide motifs, consistent with nuclear transport or chaperone activity. AIPL1 mutations may cause approximately 20% of recessive LCA. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TPR: Tetratricopeptide repeats
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Aryl hydrocarbon receptor interacting protein-like 1 isoform 1; Aryl hydrocarbon receptor interacting protein-like 1 isoform 2; Aryl hydrocarbon receptor interacting protein-like 1 isoform 3; LCA4
    Approved Symbol:
    AIPL1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 9
    Human (de-) phosphorylation sites: 9; 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 IV(Pd);
  • Retinitis pigmentosa, juvenile, autosomal dominant(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 05092 Entrez Gene ID: 23746 OMIM ID: 604392 Swissprot Accession: Q8N6A0; Q6ZZB6; Q9NZN9;