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FLASH GENE
Symbol SERPINA1 contributors: mct/npt/pgu - updated : 10-01-2013
HGNC name serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
HGNC id 8941
Corresponding disease
COPD1 pulmonary disease, chronic obstructive, 1
Location 14q32.13      Physical location : 94.843.084 - 94.857.029
Synonym name
  • protease inhibitor (alpha-1-antitrypsin)
  • protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin
  • serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
  • Synonym symbol(s) AAT, PI, PI1, A1AT, A1A, alpha-1-antitrypsin, MGC23330, MGC9222, PRO2275
    EC.number 5.3.1.1
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    STRUCTURE 13.95 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure
  • a 5' matrix attachment region (MAR)
  • 4 exons coding
  • MAPPING cloned Y linked Y status confirmed
    Map cen - SERPINA6 - SERPINA2 - SERPINA1 - SERPINA4 - SERPINA5 - SERPINA3 - qter
    Physical map
    C14orf86 14 chromosome 14 open reading frame 86 LOC90050 14q32.13 hypothetical protein BC009073 ASB2 14q31-q32 ankyrin repeat and SOCS box-containing 2 C14orf48 14q32.13 chromosome 14 open reading frame 48 C14orf137 14q32.13-q32.2 chromosome 14 open reading frame 137 DDX24 14q32 DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 FAM14B 14q32.13 family with sequence similarity 14, member B IFI27 14q32 interferon, alpha-inducible protein 27 FAM14A 14q32.13 family with sequence similarity 14, member A KIAA1622 14q32.2 KIAA1622 SERPINA10 14q32.13 serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 SERPINA6 14q32.1 serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 LOC390502 14 similar to Alpha-1-antitrypsin-related protein precursor SERPINA1 14q32.1 serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 LOC256394 14q32.2 similar to serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4; protease inhibitor 4 (kallistatin) SERPINA11 14q32.2 similar to serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4; protease inhibitor 4 (kallistatin) OL-64 14q32.2 visceral adipose-specific SERPIN SERPINA4 14q32.1 serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 SERPINA5 14q32.11 serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 SERPINA3 14q32.11 serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 LOC390503 14 similar to adiponectin receptor 1; CGI-45 protein LOC388007 14 similar to protease inhibitor LAMR1P4 14 laminin receptor 1 pseudogene 4 GSC 14q32.1 goosecoid
    RNA
    TRANSCRIPTS type messenger
    text all transcripts encode the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 3220 44 418 - 1992 1406456
    5 - 3199 44 418 - 1992 1406456
    7 - 3513 44 418 - 1992 1406456
    5 - 3236 44 418 - 1992 1406456
    7 - 3532 44 418 - 1992 1406456
    6 - 3340 44 418 - 1992 1406456
    7 - 3495 44 418 - 1992 1406456
    7 - 3492 44 418 - 1992 1406456
    7 - 3510 44 418 - 1992 1406456
    6 - 3303 44 418 - 1992 1406456
    6 - 3300 44 418 - 1992 1406456
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   predominantly
    Lymphoid/Immunespleen   highly
     thymus   highly
    Visualeyeanterior segmentcornea  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow    Homo sapiens
    Epithelial   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticneutrophil Homo sapiens
    Lymphoid/Immunemacrophage
    cell lineage
    cell lines hepatoma cells
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text liver
    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
  • 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