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Description for Protein SERPINA1

serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
20 total interacting proteins; 6 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 8/2)
(alpha granules: 1; membrane: 1; platelet: 5; secretome: 3; undefined: 1)
Summary:
The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • SERPIN: SERine Proteinase INhibitors
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K03984
    KEGG - Pathway(s):
    hsa04610
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    PI; PI1; AAT; A1A; A1AT; Alpha 1 antitrypsin; Alpha 1 protease inhibitor; Alpha 1 antiproteinase; Antielastase; Antitrypsin; Serine (or cysteine) proteinase inhibitor clade A (alpha 1 antiproteinase antitrypsin); MGC9222; PRO2275; MGC23330; protease inhibitor 1anti elastase alpha 1-antitrypsin
    Approved Symbol:
    SERPINA1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 3
    Human (de-) phosphorylation sites: 3; 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):

  • 2-Sulfhydryl-Ethanol(db);
  • 2-[3,4-Dihydroxy-2-Hydroxymethyl-5-(2-Hydroxy-Nonyl)-Tetrahydro-Furan-2-Yloxy]-6-Hydroxymethyl-Tetra Hydro-Pyran-3,4,5-Triol(db)

    Associated Genetic Diseases:

  • PI B (Alhambra)(Pd);
  • PI Christchurch(Pd);
  • PI F(Pd);
  • PI I(Pd);
  • PI Kalsheker-Poller(Pd);
  • PI M (Heerlen)(Pd);
  • PI M (Malton)(Pd);
  • PI M (Mineral Springs)(Pd);
  • PI M (Nichinan)(Pd);
  • PI M (Procida)(Pd);
  • PI M1-Ala213(Pd);
  • PI M2(Pd);
  • PI M3(Pd);
  • PI null (Bellingham)(Pd);
  • PI null (Bolton)(Pd);
  • PI null (Devon)(Pd);
  • PI null (Granite Falls)(Pd);
  • PI null (Hong Kong 1)(Pd);
  • PI null (Ludwigshafen)(Pd);
  • PI null (Mattawa)(Pd);
  • PI null (Procida)(Pd);
  • PI null (Riedenburg)(Pd);
  • PI null (West)(Pd);
  • PI P (Duarte)(Pd);
  • PI P (Lowell)(Pd);
  • PI P (St. Albans)(Pd);
  • PI Pittsburgh(Pd);
  • PI S(Pd);
  • PI S (Iiyama)(Pd);
  • PI V (Munich)(Pd);
  • PI W (Bethesda)(Pd);
  • PI X(Pd);
  • PI Z(Pd);
  • PI Z (Augsburg)(Pd);
  • PI Z (Wrexham)(Pd)
    		• Predicted Transmembrane Domains:
    02463_11(0)
    02463_10(0)
  • Isoform 9 : 0
  • Isoform 8 : 0
  • Isoform 7 : 0
  • Isoform 6 : 0
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02463 Entrez Gene ID: 5265 OMIM ID: 107400 Swissprot Accession: P01009;