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SERPINA3 Gene

protein-coding   GIFtS: 64
GCID: GC14P095078

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

(Previous names: alpha-1-antichymotrypsin, serine (or cysteine) proteinase...)
(Previous symbol: AACT)
  See SERPINA3-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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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   
ORGUL members:         

Export aliases for SERPINA3 gene to outside databases

Previous GC identifers: GC14P092585 GC14P088870 GC14P093019 GC14P093020 GC14P093070 GC14P094148 GC14P075259


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 extraskeletal chondroma, and alpha-1-antichymotrypsin deficiency. GO annotations related to this gene include serine-type endopeptidase inhibitor activity. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NC_018925.2  NT_026437.13  
Regulatory elements:
   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 Chromatin IP Primers for SERPINA3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
95,078,714 bp from pter      End:
95,090,392 bp from pter
Size:
11,679 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • N- and O-glycosylated1
  • Glycosylation2 at Asn33, Asn93, Asn106, Asn127, Asn186, Asn271, Thr347
  • Modification sites at PhosphoSitePlus

  • See SERPINA3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001076.2  
    ENSEMBL proteins: 
     ENSP00000376795   ENSP00000452246   ENSP00000450540   ENSP00000452476   ENSP00000451119  
     ENSP00000376793  

    SERPINA3 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for SERPINA3
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    Novus Biologicals SERPINA3 Proteins
    Novus Biologicals SERPINA3 Lysate
    Browse Sino Biological Recombinant Proteins
    Sino Biological Cell Lysate for SERPINA3
    ProSpec Recombinant Protein for SERPINA3
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for SERPINA3 

    SERPINA3 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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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

    SERPINA3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    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.
    Search eBioscience for ELISAs for SERPINA3 


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

    3 InterPro protein domains:
     IPR023795 Serpin_CS
     IPR000215 Serpin_fam
     IPR023796 Serpin_dom

    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


    Find genes that share domains with SERPINA3           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS14668352
    GO:0004867serine-type endopeptidase inhibitor activity TAS2404007
    GO:0005515protein binding IPI12709365
         
    Find genes that share ontologies with SERPINA3           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SERPINA3
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SERPINA3

    miRNA
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    miRTarBase miRNAs that target SERPINA3:
    hsa-mir-335-5p (MIRT016786)

    Block miRNA regulation of human, mouse, rat SERPINA3 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate SERPINA3:
    hsa-miR-137
    SwitchGear 3'UTR luciferase reporter plasmidSERPINA3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SERPINA3
    Predesigned siRNA for gene silencing in human, mouse, rat SERPINA3

    Gene Editing
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    Clone
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    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

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SERPINA3 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPINA3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AACT_HUMAN, P01011: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    nucleus5
    cytosol2
    endoplasmic reticulum1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS14718574
    GO:0005615extracellular space ----
    GO:0005622intracellular NAS9880565
    GO:0005634nucleus TAS14668352
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with SERPINA3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SERPINA3 About    
    See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    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



        Pathway & Disease-focused RT2 Profiler PCR Arrays including SERPINA3: 
              Alzheimer's Disease in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat
              Hepatotoxicity in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SERPINA3

    Selected 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): Selected biological process terms (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--

    Find genes that share ontologies with SERPINA3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SERPINA3 (AACT)

    Selected 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)

    1 PharmGKB related drug/compound annotation for SERPINA3 gene    About this table
    Drug/compound PharmGKB Annotation
    antineoplastic agentsCA  



    Find genes that share compounds with SERPINA3           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SERPINA3 gene: 
    NM_001085.4  

    Unigene Cluster for SERPINA3:

    Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
    Hs.534293  [show with all ESTs]
    Unigene Representative Sequence: AK093049
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000485588 ENST00000393080(uc001yds.3) ENST00000555820 ENST00000556388
    ENST00000467132(uc010avf.1 uc010avg.3) ENST00000556968 ENST00000482740
    ENST00000393078
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate SERPINA3:
    hsa-miR-137
    SwitchGear 3'UTR luciferase reporter plasmidSERPINA3 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: SERPINA3 (NM_001085)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SERPINA3
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SERPINA3
      QuantiTect SYBR Green Assays in human, mouse, rat SERPINA3
      QuantiFast Probe-based Assays in human, mouse, rat SERPINA3

    Additional mRNA sequence: 

    AB209060.1 AF089747.1 AK093049.1 AK308565.1 AY513275.1 AY513276.1 BC003559.1 BC010530.1 
    BC013189.1 BC034554.1 J05176.1 K01500.1 

    Selected DOTS entries (see all 49):

    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.120779182  DT.95202637 
    DT.100890329  DT.100890334  DT.100890349  DT.97860878  DT.100890357  DT.95098550  DT.100890317  DT.100890325 

    Selected AceView cDNA sequences (see all 1378):

    BQ650404 BG567810 AI206127 BM554486 CD610542 BM710517 CA445716 BI009082 
    BM506718 AA341620 CR617878 CR622184 BM708845 BX388045 CR601472 BQ009868 
    AV662114 BG562615 CR620629 CR619614 BM663120 BX450542 AW205820 BQ653323 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    SERPINA3 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 12) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 12 entries
             Zeugopod Epiphyseal End
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 9 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 (family)
     
     Paraxial Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
    SERPINA3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SERPINA3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.534293

    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

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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)
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    This gene was present in the common ancestor of human and mouse.

    Orthologs for SERPINA3 gene from Selected species (see all 7)    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 70.39(n)1
    62.28(a)1
      12 (54.17 cM)5
    207161  NM_009252.21  NP_033278.21 
     1044067295 


    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)
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    Paralogs for SERPINA3 gene
    SERPING12  SERPINA12  SERPINA102  SERPINA112  SERPINA72  SERPINA122  SERPINA92  SERPINF12  
    SERPINA52  SERPIND12  SERPINA42  SERPINA62  SERPINF22  
    Selected SIMAP similar genes for SERPINA3 using alignment to 4 protein entries:     AACT_HUMAN (see all proteins) (see all similar genes):
    SERPINA6    SERPINA1    SERPINA5    SERPINA11    SERPINA7    SERPINA9
    AT3    SERPINA4    DKFZp686D06190    SERPINA12    SERPINB11    AAT
    SERPINB3    SERPINI2    SERPINA2    SERPINB1    SERPINB4    HMSD

    Find genes that share paralogs with SERPINA3           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SERPINA3 (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
    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--------
    rs96719481,2
    C,A--76067676(+) AGAGAT/GATATA 1 -- us2k1 tfbs34Minor allele frequency- G:0.17CSA WA NA EA 360
    rs718694271,2
    C--76067689(+) TAAAG-/ACACAC
    ACACACAC
    ACACA
    1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SERPINA3 (95078714 - 95090392 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
    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 107280    OMIM disorders: --

    Selected diseases for SERPINA3 (see all 21):    
    About MalaCards
    extraskeletal chondroma    alpha-1-antichymotrypsin deficiency    acute febrile neutrophilic dermatosis    cerebrovascular disease, occlusive
    alpha 1-antitrypsin deficiency    cerebrovascular disease    chondroma    liver disease
    malignant histiocytosis    odontogenic myxoma    epithelioid leiomyosarcoma    polymyalgia rheumatica
    rosai-dorfman disease    histiocytoma    chondroblastoma    fibrous histiocytoma
    angiosarcoma    cerebral amyloid angiopathy    myositis    parkinson's disease


    Find genes that share disorders with SERPINA3           About GenesLikeMe

    Selected 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)
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    PubMed articles for SERPINA3 gene, integrated from 10 sources (see all 728):
    (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. (J. Hum. Genet. 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. (Genomics 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. (Lancet 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. (Neurobiol. Aging 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. (Neurobiol. Aging 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. (J. Biol. Chem. 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. (J. Mol. Biol. 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. (Cerebrovasc. Dis. 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. (Neurobiol. Aging 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. (J. Biol. Chem. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 12 HGNC: 16 AceView: SERPINA5andSERPINA3 Ensembl:ENSG00000196136 euGenes: HUgn12
    ECgene: SERPINA3 H-InvDB: SERPINA3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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