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FLASH GENE
Symbol SERPINA1 contributors: mct/npt/pgu - updated : 10-01-2015
HGNC name serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
HGNC id 8941
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • attachment sites for N-linked oligosaccharides
  • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • serpin family
  • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic,granule
    intracellular,nucleus,nucleolus
    text
  • associated with azurophile granules in neutrophils indicative of SERPINA1 expression being restricted to the promyelocyte stage
  • basic FUNCTION
  • serine protease inhibitor
  • inhibiting elastase
  • involved in the regulation of gene activity and chromatin structure by the complex HNF1A - HNF4
  • entry and cell association of SERPINA1 is dependent on lipid raft cholesterol and SERPINA1 depletes lipid raft cholesterol
  • regulates human neutrophil chemotaxis induced by soluble immune complexes and IL8
  • provides an antiprotease protective screen throughout the body
  • protective of tissue damage induced by enzymes of inflammatory cell source
  • contributes to the pathogenesis of ankylosing spondylitis by up-regulating the gene expression in the synovial tissues
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • LMAN2/SERPINA1 complex localized to Golgi and endoplasmic reticulum (ER)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with LMAN1 (intracellular transport receptor of alpha1-antitrypsin)
  • LMAN2 bound exclusively to the high-mannose form of SERPINA1 (function of LMAN2 in post-ER quality control of SERPINA1)
  • important inhibitor of neutrophil proteases including elastase, cathepsin G, and proteinase 3
  • TMPRSS11B is a catalytically active serine protease that is inhibited by the two Kunitz type serine protease inhibitors, hepatocyte growth factor activator inhibitor SPINT1 and SPINT2, as well as by SERPINA1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) COPD1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    AAT activity was decreased in amnions from cases with premature rupture of the membranes, regardless of gestational age
    constitutional     --over  
    in synovial membranes of patients with ankylosing spondylitis
    constitutional     --low  
    in preterm premature rupture of membrane (PPROM)
    Susceptibility
  • to Wegener granulomatosis
  • to chronic obstructive pulmonary disease
  • to liver cancer
  • to liver disease
  • Variant & Polymorphism SNP , other
  • linkage desequilibrium
  • SNP increasing the risk of chronic obstructive pulmonary disease
  • AAT deficiency variants, besides increasing the risk of lung disease, may predispose to liver disease, particularly if associated with the common Z variant
  • Candidate gene
    Marker
  • SERPINA1 and autoantibodies against SERPINA1 may be useful serum biomarkers for early-stage breast cancer screening and diagnosis
  • Therapy target
    ANIMAL & CELL MODELS