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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SERPINA3 Gene

protein-coding   GIFtS: 62
GCID: GC14P095078

Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase,...

(Previous names: alpha-1-antichymotrypsin, serine (or cysteine) proteinase...)
(Previous symbol: AACT)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase,
Antitrypsin), Member 31 2
     Serine (Or Cysteine) Proteinase Inhibitor, Clade A (Alpha-1
Antiproteinase, Antitrypsin), Member 31
AACT1 2 3 5     GIG252
ACT2 3 5     Growth-Inhibiting Protein 242
alpha-1-antichymotrypsin1 2     Growth-Inhibiting Protein 252
Cell Growth-Inhibiting Gene 24/25 Protein2 3     Serine (Or Cysteine) Proteinase Inhibitor, Clade A, Member 32
Serpin A32 3     

External Ids:    HGNC: 161   Entrez Gene: 122   Ensembl: ENSG000001961367   OMIM: 1072805   UniProtKB: P010113   

Export aliases for SERPINA3 gene to outside databases

Previous GC identifers: GC14P092585 GC14P088870 GC14P093019 GC14P093020 GC14P093070 GC14P094148 GC14P075259


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SERPINA3 Gene:
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)

GeneCards Summary for SERPINA3 Gene: 
SERPINA3 (serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3) is a protein-coding gene. Diseases associated with SERPINA3 include alpha-1-antichymotrypsin deficiency, and undifferentiated embryonal sarcoma of the liver, and among its related super-pathways are Jak/Stat Pathway and Interleukin-6 signaling. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and DNA binding. An important paralog of this gene is SERPING1.

UniProtKB/Swiss-Prot: AACT_HUMAN, P01011
Function: Although its physiological function is unclear, it can inhibit neutrophil cathepsin G and mast cell
chymase, both of which can convert angiotensin-1 to the active angiotensin-2

Gene Wiki entry for SERPINA3 (Alpha 1-antichymotrypsin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  NC_018925.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SERPINA3 gene promoter:
         PPAR-gamma1   STAT1   HNF-4alpha2   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSERPINA3 promoter sequence
   Search SABiosciences Chromatin IP Primers for SERPINA3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SERPINA3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q32.1   Ensembl cytogenetic band:  14q32.13   HGNC cytogenetic band: 14q32.1

SERPINA3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SERPINA3 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P095078:  view genomic region     (about GC identifiers)

Start:
95,058,395 bp from pter      End:
95,090,983 bp from pter
Size:
32,589 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AACT_HUMAN, P01011 (See protein sequence)
Recommended Name: Alpha-1-antichymotrypsin precursor  
Size: 423 amino acids; 47651 Da
Subunit: Interacts with DNAJC1
Subcellular location: Secreted
Miscellaneous: Alpha-1-antichymotrypsin can bind DNA
Caution: It is uncertain whether Met-1 or Met-4 is the initiator
Sequence caution: Sequence=AAA51543.1; Type=Frameshift; Positions=101, 106, 111, 117, 123, 129, 421;
Sequence=AAT08029.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAT08029.1;
Type=Frameshift; Positions=4; Sequence=BAD92297.1; Type=Erroneous initiation; Note=Translation N-terminally
shortened; Sequence=CAA48671.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
6 PDB 3D structures from and Proteopedia for SERPINA3:
1AS4 (3D)        1QMN (3D)        2ACH (3D)        3CAA (3D)        3DLW (3D)        4CAA (3D)    
Secondary accessions: B3KVQ7 Q13703 Q2TU87 Q2TU88 Q59GP9 Q6LBY8 Q6LDT7 Q6NSC9 Q8N177 Q96DW8
Q9UC47 Q9UNU9
Alternative splicing: 3 isoforms:  P01011-1   P01011-2   P01011-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SERPINA3: NX_P01011

Explore proteomics data for SERPINA3 at MOPED 

Post-translational modifications:

  • UniProtKB: N- and O-glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P01011

  • SERPINA3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SERPINA3 Protein Expression
    REFSEQ proteins: NP_001076.2  
    ENSEMBL proteins: 
     ENSP00000452367   ENSP00000376795   ENSP00000452246   ENSP00000450540   ENSP00000452476  
     ENSP00000451119   ENSP00000376793  

    Human Recombinant Protein Products for SERPINA3: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for SERPINA3 (Serpin A3/alpha 1-Antichymotrypsin)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for SERPINA3
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for SERPINA3
    GenScript Custom Purified and Recombinant Proteins Services for SERPINA3
    Novus Biologicals SERPINA3 Proteins
    Novus Biologicals SERPINA3 Lysate
    Sino Biological Recombinant Protein for SERPINA3
    Sino Biological Cell Lysate for SERPINA3 
    ProSpec Recombinant Protein for SERPINA3
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS14718574
    GO:0005615extracellular space IEA--
    GO:0005622intracellular NAS9880565
    GO:0005634nucleus TAS14668352

    SERPINA3 for ontologies           About GeneDecksing



    SERPINA3 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for SERPINA3 (Serpin A3/alpha 1-Antichymotrypsin)
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    Novus Biologicals SERPINA3 Antibodies
    Abcam antibodies for SERPINA3
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibodies for SERPINA3
    LSBio Antibodies in human, mouse, rat for SERPINA3 

    Assay Products for SERPINA3: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SERPINA3
    R&D Systems Proteome Profiler Antibody Arrays for SERPINA3 (Serpin A3/alpha 1-Antichymotrypsin)
    GenScript Custom Assay Services for SERPINA3
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SERPIN: Serine (or cysteine) peptidase inhibitors

    3 InterPro protein domains:
     IPR023795 Protease_inhib_I4_serpin_CS
     IPR023796 Serpin_dom
     IPR000215 Serpin_fam

    Graphical View of Domain Structure for InterPro Entry P01011

    ProtoNet protein and cluster: P01011

    1 Blocks protein domain: IPB000215 Serpin

    UniProtKB/Swiss-Prot: AACT_HUMAN, P01011
    Domain: The reactive center loop (RCL) extends out from the body of the protein and directs binding to the target
    protease. The protease cleaves the serpin at the reactive site within the RCL, establishing a covalent linkage
    between the carboxyl group of the serpin reactive site and the serine hydroxyl of the protease. The resulting
    inactive serpin-protease complex is highly stable
    Similarity: Belongs to the serpin family


    SERPINA3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AACT_HUMAN, P01011
    Function: Although its physiological function is unclear, it can inhibit neutrophil cathepsin G and mast cell
    chymase, both of which can convert angiotensin-1 to the active angiotensin-2

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS14668352
    GO:0004867serine-type endopeptidase inhibitor activity TAS2404007
    GO:0005515protein binding IPI12709365
         
    SERPINA3 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SERPINA3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SERPINA3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SERPINA3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SERPINA3 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SERPINA3
    1 QIAGEN miScript miRNA Assays for microRNA that regulate SERPINA3:
    hsa-miR-137
    SwitchGear 3'UTR luciferase reporter plasmidSERPINA3 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SERPINA3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SERPINA3

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of SERPINA3

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for SERPINA3 (see all 5)
    OriGene ORF clones in mouse, rat for SERPINA3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SERPINA3 (NM_001085)
    Sino Biological Human cDNA Clone for SERPINA3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SERPINA3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SERPINA3
    Sirion Biotech Customized lentivirus for stable overexpression of SERPINA3 
                         Customized lentivirus expression plasmids for stable overexpression of SERPINA3 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for SERPINA3
    Search LifeMap BioReagents cell lines for SERPINA3
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPINA3


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SERPINA3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Development Thrombopoetin signaling via JAK-STAT pathway
    Development Thrombopoetin signaling via JAK-STAT pathway0.32
    2Immune response Oncostatin M signaling via JAK-Stat in human cells
    Immune response Oncostatin M signaling via JAK-Stat in human cells0.30
    3Selenium Pathway
    Selenium Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for SERPINA3
        Immune response Oncostatin M signaling via JAK-Stat in human cells
    Development Thrombopoetin signaling via JAK-STAT pathway


    2 GeneGo (Thomson Reuters) Pathways for SERPINA3
        Immune response Oncostatin M signaling via JAK-Stat in human cells
    Development Thrombopoetin signaling via JAK-STAT pathway

    1 BioSystems Pathway for SERPINA3
        Selenium Pathway




    SERPINA3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SERPINA3

    5/21 Interacting proteins for SERPINA3 (P010111, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DNAJC1Q96KC81, 3EBI-296557,EBI-296550 I2D: score=3 
    ELANEP082463I2D: score=3 
    ADAMTS4O751733I2D: score=2 
    APPP050673I2D: score=2 
    CTRCQ998953I2D: score=2 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006953acute-phase response IEA--
    GO:0006954inflammatory response NAS12475184
    GO:0010951negative regulation of endopeptidase activity IBA--
    GO:0019216regulation of lipid metabolic process NAS11835318
    GO:0030162regulation of proteolysis IBA--

    SERPINA3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SERPINA3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SERPINA3 (AACT)

    10/56 Novoseek inferred chemical compound relationships for SERPINA3 gene (see all 56)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    contrapsin 74.6 2 7891100 (1), 1724904 (1)
    serine 70.8 89 7759598 (2), 8892350 (2), 1958574 (1), 8011628 (1) (see all 61)
    naphthol as-d chloroacetate 46.9 2 1754510 (1), 8703373 (1)
    cpsa 41.8 1 10626683 (1)
    fibrinogen 40.7 39 7519416 (2), 7695840 (2), 15526546 (2), 1724187 (2) (see all 22)
    sialic acid 33.4 8 7627722 (3), 16868668 (2), 7532440 (1)
    diisopropylfluorophosphate 30.3 1 8267879 (1)
    rubin 29.2 2 9651334 (1), 1312083 (1)
    chymostatin 25.4 2 8267879 (1), 7538844 (1)
    vitamin a 20.9 25 11063444 (5), 12908896 (4), 19017312 (2), 11382660 (2) (see all 8)

    Search CenterWatch for drugs/clinical trials and news about SERPINA3 / AACT

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SERPINA3 gene: 
    NM_001085.4  

    Unigene Clusters for SERPINA3:

    Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
    Hs.534293  [show with all ESTs], Hs.710488  [show with all ESTs]
    Unigene Representative Sequences: AK093049, BC070265
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000553947(uc001ydo.4 uc001ydp.3 uc001ydr.3 uc021sbb.1)
    ENST00000485588 ENST00000393080(uc001yds.3) ENST00000555820 ENST00000556388
    ENST00000467132(uc010avf.1 uc010avg.3) ENST00000556968 ENST00000482740
    ENST00000393078
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate SERPINA3:
    hsa-miR-137
    SwitchGear 3'UTR luciferase reporter plasmidSERPINA3 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    Clone
    Products:
         
    OriGene clones in human, mouse for SERPINA3 (see all 5)
    OriGene ORF clones in mouse, rat for SERPINA3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SERPINA3 (NM_001085)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SERPINA3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SERPINA3
    Sirion Biotech Customized lentivirus for stable overexpression of SERPINA3 
                         Customized lentivirus expression plasmids for stable overexpression of SERPINA3 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SERPINA3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SERPINA3

    Additional mRNA sequence: BC070265.1 

    24/50 DOTS entries (see all 50):

    DT.100890356  DT.92463702  DT.454351  DT.95375744  DT.86859776  DT.100890333  DT.100838926  DT.100890311 
    DT.101984834  DT.100890324  DT.100890353  DT.100890313  DT.120779223  DT.95314377  DT.100890349  DT.120779182 
    DT.95202637  DT.97860878  DT.100890329  DT.100890334  DT.100890357  DT.95098550  DT.100890317  DT.100890325 

    24/1378 AceView cDNA sequences (see all 1378):

    BU684422 CR612671 CR622184 BC003559 BM704908 CA844265 BX388046 CR624780 
    BG533456 BP370434 BU195772 CR610368 BX422540 BF589722 BE773576 BQ653323 
    BQ650141 CA418790 BU689474 BQ676315 CR625124 BM663120 CR615849 BX450101 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for SERPINA3 (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d ^ 10
    SP1:                    -                                                                 -                                               -         
    SP2:                                                                                      -                                               -         
    SP3:                    -                                                                 -     -     -     -     -                       -         
    SP4:                    -                                   -     -     -     -     -     -     -     -     -                                       
    SP5:                    -     -           -                                               -                                                         


    ECgene alternative splicing isoforms for SERPINA3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SERPINA3 expression in normal human tissues (normalized intensities)      SERPINA3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACTCTTCAG
    SERPINA3 Expression
    About this image


    SERPINA3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/26 selected tissues (see all 26) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 12 entries
             Zeugopod Epiphyseal End
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
             Human Calvarial Osteoblasts (HCO)   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 8 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 5 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
             Retina
             Limbal epithelial stem cells
     
     Paraxial Mesoderm (Gastrulation Derivatives)    fully expand to see all 4 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
             skeleton/axial skeleton/sacral region   

    See SERPINA3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SERPINA3

    SOURCE GeneReport for Unigene clusters: Hs.534293 Hs.710488

    UniProtKB/Swiss-Prot: AACT_HUMAN, P01011
    Tissue specificity: Plasma. Synthesized in the liver. Like the related alpha-1-antitrypsin, its concentration
    increases in the acute phase of inflammation or infection. Found in the amyloid plaques from the hippocampus of
    Alzheimer disease brains

        SABiosciences Expression via Pathway-Focused PCR Arrays including SERPINA3: 
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              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for SERPINA3 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Serpina3n1 , 5 serine (or cysteine) peptidase inhibitor, clade A, more1, 5 70.53(n)1
    62.32(a)1
      12 (54.17 cM)5
    207161  NM_009252.21  NP_033278.21 
     1044067295 
    chicken
    (Gallus gallus)
    Aves --
    SERPINA46
    (see all 6)
    Uncharacterized protein
    (see all 6)
    43(a)
    42(a)
    (see all 6)
    many ↔ many
    many ↔ many
    (see all 6)
    5(44856689-44859769)
    5(44796360-44807681)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 7)
    --
    44(a)
    43(a)
    (see all 7)
    many ↔ many
    many ↔ many
    (see all 7)
    1(6446197-6452624)
    1(6468897-6485406)


    ENSEMBL Gene Tree for SERPINA3 (if available)
    TreeFam Gene Tree for SERPINA3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SERPINA3 gene
    SERPING12  SERPINA12  SERPINH12  SERPINA102  SERPINA112  SERPINA72  SERPINA122  SERPINA92  
    SERPINF12  SERPINA52  SERPIND12  SERPINA42  SERPINA62  SERPINF22  
    18/38 SIMAP similar genes for SERPINA3 using alignment to 4 protein entries:     AACT_HUMAN (see all proteins) (see all similar genes):
    SCCA1    SERPINA6    SERPINA1    SERPINA5    SERPINA11    SERPINA7
    SERPINA9    AT3    SERPINA4    SERPINA12    DKFZp686D06190    AAT
    SERPINB1    SERPINB3    SERPINI2    SERPINB11    HMSD    SERPINA2P

    SERPINA3 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SERPINA3
    PGOHUM00000261848


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/460 SNPs in SERPINA3 are shown (see all 460)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs18004631,2,4
    Cpathogenic176071886(+) CCCACT/CGAGCA 2 /P /L mis15Minor allele frequency- C:0.00NA EA 256
    rs174731,2,4
    C,F,Hpathogenic176076517(+) CTATAC/GCTTAC 2 P A mis118Minor allele frequency- G:0.17NA EA MN NS EU 7361
    rs1169295751,2
    Cpathogenic176080994(+) TCTTCA/GTGAGC 2 M V mis12Minor allele frequency- G:0.00EA EU 1443
    VAR_0069774
    ----see VAR_0069772 M V mis40--------
    VAR_0069754
    ----see VAR_0069752 A G mis40--------
    rs1880726201,2
    C--76067604(+) ATATAA/TAAATA 1 -- us2k10--------
    rs1152060131,2
    F--76067635(+) TATACG/CTATAT 1 -- us2k11Minor allele frequency- C:0.01WA 118
    rs1997865751,2
    --76067653(+) TATAT-/ACACACA 1 -- us2k10--------
    rs1432658801,2
    C--76067665(+) CACAC-/ATAGAGA 1 -- us2k10--------
    rs795073201,2
    C--76067666(+) ACACAC/TAGAGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SERPINA3 (95058395 - 95090983 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SERPINA3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv832865CNV Gain17160897
    nsv470662CNV Gain18288195


    Human Gene Mutation Database (HGMD): SERPINA3
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 107280    OMIM disorders: --

    20/113 diseases for SERPINA3 (see all 113):    About MalaCards
    alpha-1-antichymotrypsin deficiency    undifferentiated embryonal sarcoma of the liver    cerebrovascular disease    embryonal sarcoma
    extraskeletal chondroma    alpha 1-antitrypsin deficiency    polymyalgia rheumatica    acute febrile neutrophilic dermatosis
    steroid-induced glaucoma    chronic obstructive pulmonary disease    liver disease    epithelioid leiomyosarcoma
    prostate disease    malignant histiocytosis    rosai-dorfman disease    chondroma
    histiocytoma    breast cyst    chondroblastoma    odontogenic myxoma


    SERPINA3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/93 Novoseek inferred disease relationships for SERPINA3 gene (see all 93)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 74.1 191 1623174 (3), 9221977 (3), 9129962 (3), 7857652 (3) (see all 99)
    senile plaques 72.4 49 8019922 (2), 8159260 (2), 1702930 (2), 7670501 (1) (see all 31)
    response acute phase 71.6 8 2130541 (1), 9014651 (1), 9585727 (1), 15709178 (1) (see all 7)
    malignant fibrous histiocytoma 65.8 9 8091802 (2), 1851349 (2), 8078801 (1), 14655155 (1) (see all 6)
    benign prostatic hyperplasia 63.5 13 10609542 (2), 10351990 (1), 11920529 (1), 7694414 (1) (see all 10)
    sporadic cerebral amyloid angiopathy 60.9 3 1688925 (1), 9667601 (1)
    late onset alzheimer disease 59.6 2 9370085 (1), 7535791 (1)
    alpha 1-antitrypsin deficiency 58.5 5 2332207 (1), 2327559 (1), 1871543 (1), 7912884 (1)
    histiocytoma fibrous 57.9 1 2163249 (1)
    prostate cancer 56.5 40 8653279 (3), 7512295 (3), 9492842 (2), 11455828 (2) (see all 25)

    Genetic Association Database (GAD): SERPINA3
    Human Genome Epidemiology (HuGE) Navigator: SERPINA3 (56 documents)

    Export disorders for SERPINA3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SERPINA3 gene, integrated from 9 sources (see all 725):
    (articles sorted by number of sources associating them with SERPINA3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Alpha-1-antichymotrypsin gene A1252G variant (ACT Isehara-1) is associated with a lacunar type of ischemic cerebrovascular disease. (PubMed id 11289720)1, 2, 4, 9 Tachikawa H.... Shinohara Y. (2001)
    2. A leucine-to-proline substitution causes a defective alpha 1- antichymotrypsin allele associated with familial obstructive lung disease. (PubMed id 8244391)1, 2, 4, 9 Poller W.... Heidtmann H.-H. (1993)
    3. Mis-sense mutation of alpha 1-antichymotrypsin gene associated with chronic lung disease. (PubMed id 1351206)1, 2, 4 Poller W.... Eriksson S. (1992)
    4. Distribution of plasma alpha 1-antichymotrypsin levels in Alzheimer disease patients and controls and their genetic controls. (PubMed id 11959399)1, 4, 9 Wang X....Kamboh M.I. (2002)
    5. Alpha-1-antichymotrypsin (ACT or SERPINA3) polymorphism may affect age-at-onset and disease duration of Alzheimer's disease. (PubMed id 16137793)1, 4, 9 Kamboh M.I....DeKosky S.T. (2006)
    6. Molecular studies define the primary structure of alpha1- antichymotrypsin (ACT) protease inhibitor in Alzheimer's disease brains. Comparison of act in hippocampus and liver. (PubMed id 9880565)1, 2, 9 Hwang S.-R.... Hook V.Y.H. (1999)
    7. Crystal structure of cleaved human alpha 1-antichymotrypsin at 2.7-A resolution and its comparison with other serpins. (PubMed id 2016749)1, 2, 9 Baumann U.... Laurell C.-B. (1991)
    8. The alanine/threonine polymorphism of the alpha-1-antichymotrypsin (SERPINA3) gene and ruptured intracranial aneurysms in the Japanese population. (PubMed id 16968986)1, 4, 9 Krischek B....Inoue I. (2007)
    9. A new promoter polymorphism in the alpha-1-antichymotrypsin gene is a disease modifier of Alzheimer's disease. (PubMed id 15653173)1, 4, 9 Licastro F....Canal N. (2005)
    10. The SANT2 domain of the murine tumor cell DnaJ-like protein 1 human homologue interacts with alpha1-antichymotrypsin and kinetically interferes with its serpin inhibitory activity. (PubMed id 14668352)1, 2, 9 Kroczynska B....Blond S.Y. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 12 HGNC: 16 AceView: SERPINA5andSERPINA3 Ensembl:ENSG00000196136 euGenes: HUgn12
    ECgene: SERPINA3 H-InvDB: SERPINA3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SERPINA3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SERPINA3 Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Alpha_1-antichymotrypsin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SERPINA3 gene:
    Search GeneIP for patents involving SERPINA3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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