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Description for Protein AMPH

amphiphysin
22 total interacting proteins; 17 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 2/2)
(phosphoproteome: 1; platelet: 2; undefined: 1)
Summary:
This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11. (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
  • SH3: Src homology 3 domains
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K12562
    KEGG - Pathway(s):
    hsa04666
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Amphyphysin I; AMPH1; Amphiphysin isoform 2; Amphiphysin isoform 1
    Approved Symbol:
    AMPH
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 16
    Human (de-) phosphorylation sites: 16; Platelet phosphorylation sites: 1
    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 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02687 Entrez Gene ID: 273 OMIM ID: 600418 Swissprot Accession: P49418;