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    SERPINA3 serpin family A member 3 [ Homo sapiens (human) ]

    Gene ID: 12, updated on 11-Jul-2019

    Summary

    Official Symbol
    SERPINA3provided by HGNC
    Official Full Name
    serpin family A member 3provided by HGNC
    Primary source
    HGNC:HGNC:16
    See related
    Ensembl:ENSG00000196136 MIM:107280
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACT; AACT; GIG24; GIG25
    Summary
    The protein encoded by this gene is a plasma protease inhibitor and member of the serine protease inhibitor class. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein's sequence have been implicated in Alzheimer's disease, and deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in liver (RPKM 989.5), gall bladder (RPKM 89.2) and 4 other tissues See more
    Orthologs

    Genomic context

    See SERPINA3 in Genome Data Viewer
    Location:
    14q32.13
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (94612377..94624053)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (95078639..95090395)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene serpin family A member 4 Neighboring gene serpin family A member 5 Neighboring gene uncharacterized LOC112268127 Neighboring gene adiponectin receptor 1 pseudogene 2 Neighboring gene serpin family A member 13, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120-treated vaginal epithelial cells show upregulation of serpin peptidase inhibitor, clade A, member 3 (SERPINA3) expression as compared to untreated control PubMed
    Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of serpin peptidase inhibitor, clade A, member 3 (SERPINA3) in primary human brain microvascular endothelial cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC88254

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    serine-type endopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    serine-type endopeptidase inhibitor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    acute-phase response IEA
    Inferred from Electronic Annotation
    more info
     
    inflammatory response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    maintenance of gastrointestinal epithelium NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    platelet degranulation TAS
    Traceable Author Statement
    more info
     
    regulation of lipid metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    blood microparticle HDA PubMed 
    collagen-containing extracellular matrix HDA PubMed 
    extracellular exosome HDA PubMed 
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space HDA PubMed 
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
     
    secretory granule lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    alpha-1-antichymotrypsin
    Names
    cell growth-inhibiting gene 24/25 protein
    growth-inhibiting protein 24
    growth-inhibiting protein 25
    serine (or cysteine) proteinase inhibitor, clade A, member 3
    serpin A3
    serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012879.1 RefSeqGene

      Range
      5001..16677
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001085.5NP_001076.2  alpha-1-antichymotrypsin precursor

      See identical proteins and their annotated locations for NP_001076.2

      Status: REVIEWED

      Source sequence(s)
      BC003559, DA131576
      Consensus CDS
      CCDS32150.1
      UniProtKB/Swiss-Prot
      P01011
      UniProtKB/TrEMBL
      A0A024R6P0
      Related
      ENSP00000376793.3, ENST00000393078.4
      Conserved Domains (1) summary
      cd02056
      Location:52417
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

      Range
      94612377..94624053
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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