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FLASH GENE
Symbol SERPINA3 contributors: mct/npt - updated : 27-06-2012
HGNC name serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
HGNC id 16
Corresponding disease
AACT alpha-1-antichymotrypsin defect
Location 14q32.11      Physical location : 95.078.713 - 95.090.389
Synonym name
  • alpha-1-antichymotrypsin
  • growth-inhibiting protein 24
  • clade A (alpha-1 antiproteinase, antitrypsin), member 3
  • growth-inhibiting protein 25
  • serpin peptidase inhibitor, clade A, member 3
  • Synonym symbol(s) ACT, GIG24, GIG25, MGC88254, AACT, Alpha1-ACT
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster, opposite orientation
    text in opposite orientation to SERPINA1
    STRUCTURE 11.68 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure
  • promoter of SERPINA3 is transcriptionally activated by three transcription factors (TFs) (SP1, MZF1 and ZBTB7B)
  • in normal placenta, the SERPINA3 promoter is methylated
  • MAPPING cloned Y linked Y status confirmed
    Physical map
    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 RPL15P2 14 ribosomal protein L15 pseudogene 2ribosomal protein L15 pseudogene 2 LOC256453 14q32.2 hypothetical LOC256453
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 1629 45 423 - 2004 15014966
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Endocrinepancreas   highly
    Urinarybladder   highly
    cell lineage
    cell lines
    fluid/secretion plasma
    at STAGE
    physiological period
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • high molecular weight proteinase inhibitor
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to rattus spin2c
    homolog to murine Spin2c
    Homologene
    FAMILY
  • serpin superfamily
  • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,nucleus
    basic FUNCTION
  • inhibits the activity of cathepsin G (release of neutrophil cathepsin G can destroy the vascular matrix through degradation, platelet aggregation and coagulation disorders)
  • inhibitor that controls proMMP-9 activation in skin tissue
  • would likely contribute to reducing tissue damage by proteases that are released at the site of skin injury
  • in the context of chronic inflammatory diseases, therapeutic SERPINA3 might protect tissue from undesirable destructive side effects of leukocyte-derived proteases
  • is a typical acute-phase protein secreted into the circulation during acute and chronic inflammation
  • has anti-inflammatory and anti-apoptotic functions
  • importance of SERPINA3 in the homeostasis of placental development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AACT
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    aberrantly expressed during melanoma progression and predicts poor survival for patients with metastatic melanoma
    constitutional     --over  
    SERPINA3 mRNA is overexpressed in the placentas of preeclamptic/IUGR pregnancies compared with controls, along with hypomethylation of the 5&8242; gene region
    Susceptibility to Alzheimer disease and to Parkinson disease
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    dermatologyskin 
    potential therapeutic value in inflammation-mediated tissue damage, and for the treatment of recalcitrant nonhealing skin ulcers
    ANIMAL & CELL MODELS