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Description for Protein APH1A

anterior pharynx defective 1 homolog A (C. elegans)
5 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
APH1 is a multipass transmembrane protein that interacts with presenilin (see PSEN1; MIM 104311) and nicastrin (APH2; MIM 605254) as a functional component of the gamma-secretase complex. The gamma-secretase complex is required for the intramembrane proteolysis of a number of membrane proteins, including the amyloid-beta precursor protein (APP; MIM 104760) and Notch (MIM 190198).[supplied by OMIM] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K06172
    KEGG - Pathway(s):
    hsa04330; hsa05010
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Anterior pharynx defective 1 homolog A; Aph1 alpha; Presenilin stabilization factor; CGI 78; APH-1A; PSF; Anterior pharynx defective 1 homolog A isoform 1; Anterior pharynx defective 1 homolog A isoform 2
    Approved Symbol:
    APH1A
    (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:

    None Available
    		Predicted Transmembrane Domains:
  • Isoform 3 : 7
  • Isoform 2 : 7
  • Isoform 1 : 7
    • Additional Identifiers:

    HPRD: 06360 Entrez Gene ID: 51107 OMIM ID: 607629 Swissprot Accession: Q96BI3; Q5TB22;