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SERPINA1 Gene

protein-coding   GIFtS: 71
GCID: GC14M094843

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

(Previous names: serine (or cysteine) proteinase inhibitor, clade A (alpha-1...)
(Previous symbol: PI)
  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)
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Aliases
Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase,
Antitrypsin), Member 11 2
     A1AT2
PI1 2 3 5     PI12
AAT2 3 5     PRO22752
alpha-1-antitrypsin1 2     alpha-1-antiproteinase2
Alpha-1 Protease Inhibitor2 3     Alpha-1-Antitrypsin Null2
Serpin A12 3     alpha1AT2
Protease Inhibitor 1 (Anti-Elastase)1     Protease Inhibitor 1 (Anti-Elastase), Alpha-1-Antitrypsin2
Serine (Or Cysteine) Proteinase Inhibitor, Clade A (Alpha-1
Antiproteinase, Antitrypsin), Member 11
     Serine (Or Cysteine) Proteinase Inhibitor, Clade A, Member 12
A1A2     Alpha-1-antiproteinase3

External Ids:    HGNC: 89411   Entrez Gene: 52652   Ensembl: ENSG000001972497   OMIM: 1074005   UniProtKB: P010093   

Export aliases for SERPINA1 gene to outside databases

Previous GC identifers: GC14M092351 GC14M088661 GC14M092834 GC14M093914 GC14M075022


(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 SERPINA1 Gene:
The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase,
plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or
liver disease. Several transcript variants encoding the same protein have been found for this gene. (provided by
RefSeq, Jul 2008)

GeneCards Summary for SERPINA1 Gene:
SERPINA1 (serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1) is a protein-coding gene. Diseases associated with SERPINA1 include liver disease, and hemorrhagic diathesis due to \'antithrombin\' pittsburgh. GO annotations related to this gene include protease binding and identical protein binding. An important paralog of this gene is SERPING1.

UniProtKB/Swiss-Prot: A1AT_HUMAN, P01009
Function: Inhibitor of serine proteases. Its primary target is elastase, but it also has a moderate affinity for
plasmin and thrombin. Irreversibly inhibits trypsin, chymotrypsin and plasminogen activator. The aberrant form
inhibits insulin-induced NO synthesis in platelets, decreases coagulation time and has proteolytic activity
against insulin and plasmin
Function: Short peptide from AAT: reversible chymotrypsin inhibitor. It also inhibits elastase, but not trypsin.
Its major physiological function is the protection of the lower respiratory tract against proteolytic destruction
by human leukocyte elastase (HLE)

Gene Wiki entry for SERPINA1 (Alpha 1-antitrypsin) 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:
NC_000014.9  NC_018925.2  NT_026437.13  NT_187601.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the SERPINA1 gene promoter:
         TBP   AP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): SERPINA1 promoter sequence
   Search Chromatin IP Primers for SERPINA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SERPINA1


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

SERPINA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SERPINA1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M094843:  view genomic region     (about GC identifiers)

Start:
94,843,084 bp from pter      End:
94,857,030 bp from pter
Size:
13,947 bases      Orientation:
minus 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, 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., 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: A1AT_HUMAN, P01009 (See protein sequence)
Recommended Name: Alpha-1-antitrypsin precursor  
Size: 418 amino acids; 46737 Da
Subunit: The variants S and Z interact with CANX AND PDIA3
Miscellaneous: The aberrant form is found in the plasma of chronic smokers, and persists after smoking is ceased.
It can still be found ten years after smoking has ceased
Sequence caution: Sequence=CAD62334.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAD62585.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Selected PDB 3D structures from and Proteopedia for SERPINA1 (see all 24):
1ATU (3D)        1D5S (3D)        1EZX (3D)        1HP7 (3D)        1IZ2 (3D)        1KCT (3D)    
Secondary accessions: A6PX14 B2RDQ8 Q0PVP5 Q13672 Q53XB8 Q5U0M1 Q7M4R2 Q86U18 Q86U19 Q96BF9
Q96ES1 Q9P1P0 Q9UCE6 Q9UCM3
Alternative splicing: 3 isoforms:  P01009-1   P01009-2   P01009-3   (No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for SERPINA1: NX_P01009

Explore proteomics data for SERPINA1 at MOPED

Post-translational modifications: 

  • N-glycosylated. Differential glycosylation produces a number of isoforms. N-linked glycan at Asn-107 is
    alternatively di-antennary, tri-antennary or tetra-antennary. The glycan at Asn-70 is di-antennary with trace
    amounts of tri-antennary. Glycan at Asn-271 is exclusively di-antennary. Structure of glycans at Asn-70 and
    Asn-271 is Hex5HexNAc4. The structure of the antennae is Neu5Ac(alpha1-6)Gal(beta1-4)GlcNAc attached to the core
    structure Man(alpha1-6)[Man(alpha1-3)]Man(beta1-4)GlcNAc(beta1-4)GlcNAc. Some antennae are fucosylated, which
    forms a Lewis-X determinant1
  • Proteolytic processing may yield the truncated form that ranges from Asp-30 to Lys-4181
  • Glycosylation2 at Asn70, Asn107, Asn271
  • Modification sites at PhosphoSitePlus

  • See SERPINA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (11 alternative transcripts): 
    NP_000286.3  NP_001002235.1  NP_001002236.1  NP_001121172.1  NP_001121173.1  NP_001121174.1  NP_001121175.1  NP_001121176.1  
    NP_001121177.1  NP_001121178.1  NP_001121179.1  

    ENSEMBL proteins: 
     ENSP00000390299   ENSP00000376802   ENSP00000451525   ENSP00000376803   ENSP00000385960  
     ENSP00000416354   ENSP00000386094   ENSP00000450561   ENSP00000452169   ENSP00000452452  
     ENSP00000451098   ENSP00000452480   ENSP00000451826   ENSP00000416066   ENSP00000408474  
     ENSP00000348068  
    Reactome Protein details: P01009

    SERPINA1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for SERPINA1 (Serpin A1/alpha 1-Antitrypsin)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for SERPINA1
    OriGene Protein Over-expression Lysate for SERPINA1
    OriGene MassSpec for SERPINA1
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    Novus Biologicals SERPINA1 Proteins
    Novus Biologicals SERPINA1 Lysates
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    Sino Biological Cell Lysate for SERPINA1
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    SERPINA1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SERPINA1
    R&D Systems Antibodies for SERPINA1 (Serpin A1/alpha 1-Antitrypsin, Serpin A1c/alpha 1-Antitrypsin, Serpin A1a)
    OriGene Antibodies for SERPINA1
    OriGene Custom Antibody Services for SERPINA1
    Novus Biologicals SERPINA1 Antibodies
    Abcam antibodies for SERPINA1
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for SERPINA1
    LSBio Antibodies in human, mouse, rat for SERPINA1

    SERPINA1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    R&D Systems ELISAs for SERPINA1 (Serpin A1/alpha 1-Antitrypsin)
    GenScript Custom Assay Services for SERPINA1
    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)
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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 P01009

    ProtoNet protein and cluster: P01009

    1 Blocks protein domain: IPB000215 Serpin

    UniProtKB/Swiss-Prot: A1AT_HUMAN, P01009
    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


    SERPINA1 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: A1AT_HUMAN, P01009
    Function: Inhibitor of serine proteases. Its primary target is elastase, but it also has a moderate affinity for
    plasmin and thrombin. Irreversibly inhibits trypsin, chymotrypsin and plasminogen activator. The aberrant form
    inhibits insulin-induced NO synthesis in platelets, decreases coagulation time and has proteolytic activity
    against insulin and plasmin
    Function: Short peptide from AAT: reversible chymotrypsin inhibitor. It also inhibits elastase, but not trypsin.
    Its major physiological function is the protection of the lower respiratory tract against proteolytic destruction
    by human leukocyte elastase (HLE)

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IPI15853774
    GO:0004866endopeptidase inhibitor activity ----
    GO:0004867serine-type endopeptidase inhibitor activity NAS12878203
    GO:0005515protein binding IPI11057674
    GO:0042802identical protein binding IPI11057674
         
    SERPINA1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SERPINA1:
     Decreased influenza A/WSN/33 r 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SERPINA1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SERPINA1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SERPINA1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SERPINA1

    miRNA
    Products:
        
    miRTarBase miRNAs that target SERPINA1:
    hsa-mir-335-5p (MIRT016814)

    Block miRNA regulation of human, mouse, rat SERPINA1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate SERPINA1
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SERPINA1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SERPINA1

    Clone
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    OriGene clones in human, mouse for SERPINA1 (see all 61)
    OriGene ORF clones in mouse, rat for SERPINA1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 11): SERPINA1 (NM_000295)
    Sino Biological Human cDNA Clone for SERPINA1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SERPINA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SERPINA1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SERPINA1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPINA1


    (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
    A1AT_HUMAN, P01009: Secreted. Endoplasmic reticulum. Note=The S and Z allele are not secreted effectively and
    accumulate intracellularly in the endoplasmic reticulum
    A1AT_HUMAN, P01009: Short peptide from AAT: Secreted, extracellular space, extracellular matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytoskeleton2
    endoplasmic reticulum2
    golgi apparatus2
    nucleus2
    lysosome1
    plasma membrane1
    vacuole1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005615extracellular space IMP16192646
    GO:0005783endoplasmic reticulum IDA--
    GO:0031093platelet alpha granule lumen TAS--

    SERPINA1 for ontologies           About GeneDecksing


    (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 SERPINA1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement and Coagulation Cascades0.71
    2Response to elevated platelet cytosolic Ca2+
    Response to elevated platelet cytosolic Ca2+0.94
    Platelet degranulation0.94
    3Hemostasis
    Hemostasis0.43
    Platelet activation, signaling and aggregation0.43
    4Selected targets of HNF1
    Selected targets of HNF1
    5Selected targets of C EBPbeta
    Selected targets of C EBPbeta

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for SERPINA1
        Complement and Coagulation Cascades
    FOXA1 transcription factor network


    1 Reactome Pathway for SERPINA1
        Platelet degranulation


    1 Kegg Pathway  (Kegg details for SERPINA1):
        Complement and coagulation cascades


    SERPINA1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SERPINA1: 
              HIV Host Response in human mouse rat
              Fibrosis in human mouse rat
              Embryonic Stem Cells in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SERPINA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SERPINA1 (P010091, 2, 3 ENSP000003480684) via UniProtKB, MINT, STRING, and/or I2D (see all 80)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SSR1P433071, 2, 3, ENSP000002447634EBI-986224,EBI-714168 MINT-4546668 MINT-4545288 MINT-4546686 MINT-4546656 I2D: score=1 STRING: ENSP00000244763
    SERPINA1P010091, 2EBI-986224,EBI-986224 MINT-8297755 MINT-8298239 MINT-8297773
    CANXP278242, 3, ENSP000002474614MINT-4546773 I2D: score=1 STRING: ENSP00000247461
    LRP1Q079543, ENSP000002430774I2D: score=3 STRING: ENSP00000243077
    ADAMTS4O751733, ENSP000003569754I2D: score=2 STRING: ENSP00000356975
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IEA--
    GO:0002576platelet degranulation TAS--
    GO:0006953acute-phase response IEA--
    GO:0006954inflammatory response ----
    GO:0007596blood coagulation TAS--

    SERPINA1 for ontologies           About GeneDecksing



    (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 SERPINA1 (A1AT)

    2 DrugBank Compounds for SERPINA1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2-[3,4-Dihydroxy-2-Hydroxymethyl-5-(2-Hydroxy-Nonyl)-Tetrahydro-Furan-2-Yloxy]-6-Hydroxymethyl-Tetra Hydro-Pyran-3,4,5-Triol-- --target--17139284 17016423
    Beta-Mercaptoethanol-- 60-24-2target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for SERPINA1 gene (see all 46)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pimm 91.2 11 2127999 (2), 18426570 (2), 18515255 (1), 2379100 (1) (see all 7)
    serine 62.7 79 17869162 (2), 1406456 (2), 11260148 (2), 17558676 (2) (see all 61)
    hocl 53.4 11 8031117 (2), 7507456 (1), 14534155 (1), 1654816 (1) (see all 8)
    desmosine 48.5 10 17494786 (2), 11112116 (2), 12689849 (1)
    ergothioneine 48 2 9070285 (1), 1654816 (1)
    meclofenamic acid 43.8 1 7811298 (1)
    flufenamic acid 38.5 2 8694578 (1), 7811298 (1)
    phenylbutazone 32.4 4 7811298 (2), 8694578 (1), 8660395 (1)
    alpha lipoic acid 31 1 8566234 (1)
    lithocholic acid 25.3 19 9514645 (4), 7794524 (4)



    SERPINA1 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SERPINA1 gene (11 alternative transcripts): 
    NM_000295.4  NM_001002235.2  NM_001002236.2  NM_001127700.1  NM_001127701.1  NM_001127702.1  NM_001127703.1  NM_001127704.1  
    NM_001127705.1  NM_001127706.1  NM_001127707.1  

    Unigene Cluster for SERPINA1:

    Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
    Hs.525557  [show with all ESTs]
    Unigene Representative Sequence: NM_001127701
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000440909(uc001ycw.4) ENST00000393087 ENST00000489769 ENST00000393088
    ENST00000404814 ENST00000449399 ENST00000402629(uc001yda.1) ENST00000554720
    ENST00000556091 ENST00000557492 ENST00000556955 ENST00000553327 ENST00000557118
    ENST00000555289 ENST00000557361 ENST00000557093 ENST00000448921(uc010auw.3 uc001ycy.4 uc010auy.3 uc010ava.3 uc001ydb.4)
    ENST00000437397(uc001ycx.4 uc010auz.3 uc010avb.3 uc001ydc.4)

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    GenScript: all cDNA clones in your preferred vector (see all 11): SERPINA1 (NM_000295)
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SERPINA1
      QuantiTect SYBR Green Assays in human, mouse, rat SERPINA1
      QuantiFast Probe-based Assays in human, mouse, rat SERPINA1

    Additional mRNA sequence: 

    AF119873.1 AK026174.1 AK315637.1 BC011991.1 BC015642.2 BC070163.1 BT019455.1 BX161449.1 
    BX247968.1 BX248002.1 BX248257.1 DQ682455.1 FJ830375.1 GU727620.1 K01396.1 M11465.1 
    M26123.1 V00496.1 X01683.1 X02920.1 X05826.1 X05827.1 X06096.1 X17122.1 

    Selected DOTS entries (see all 80):

    DT.420945  DT.91778566  DT.100042691  DT.86993492  DT.95231782  DT.97763767  DT.100695560  DT.100695567 
    DT.87017461  DT.75109828  DT.91778567  DT.101987983  DT.100855828  DT.92013454  DT.100695563  DT.91828786 
    DT.100758171  DT.120777117  DT.91778523  DT.120777127  DT.87014068  DT.95274171  DT.100695564  DT.95274225 

    Selected AceView cDNA sequences (see all 2376):

    BM984667 BX427038 N77465 AV660335 BQ644130 CA307973 AA486133 AV652379 
    BX448303 CR592138 CD608071 AV692071 CR590437 BI759696 CB130087 H60628 
    BX422642 AV647107 N53873 R29271 CR601127 CB243470 CR623210 BE892912 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SERPINA1 (see all 17)    About this scheme

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

    ExUns: 9b ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b
    SP1:                    -                     
    SP2:  -                 -                     
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for SERPINA1

    (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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    SERPINA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAAAAGTGG
    SERPINA1 Expression
    About this image


    SERPINA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 8 entries
             Mature Hepatocytes Liver Lobule
             Liver Lobule
             Immature hepatocytes
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Hindgut
     
     NULL (Uncategorized)    fully expand to see all 2 entries
             Vascular endothelial growth factor-induced cells
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             HyStem+TGFbeta3+GDF5-induced 7PEND24 cells
     
     Blood (Hematopoietic System)
             Monocytes Peripheral Blood
    SERPINA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SERPINA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.525557

    UniProtKB/Swiss-Prot: A1AT_HUMAN, P01009
    Tissue specificity: Ubiquitous. Expressed in leukocytes and plasma

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SERPINA1: 
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              Fibrosis in human mouse rat
              Embryonic Stem Cells in human mouse rat
              Inflammatory Response & Autoimmunity 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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for SERPINA1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Serpina1a5
    Serpina1c1
    serine (or cysteine) peptidase inhibitor, clade A, more1, 5 74.03(n)1
    65.53(a)1
      12 (52.98 cM)5
    207021  NM_009245.21  NP_033271.11 
     1038535895 
    chicken
    (Gallus gallus)
    Aves SERPINA51 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, more 56.57(n)
    46.8(a)
      423435  XM_004941897.1  XP_004941954.1 
    lizard
    (Anolis carolinensis)
    Reptilia SERPINA16
    serpin peptidase inhibitor, clade A (alpha-1 antip...
    45(a)
    1 ↔ 1
    1(6351913-6365102)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3977922 alpha-1-antiproteinase 72.62(n)    AB014091.1 
    zebrafish
    (Danio rerio)
    Actinopterygii serpina1l1 serine (or cysteine) proteinase inhibitor, clade A more 53.75(n)
    42.25(a)
      321195  NM_001013259.3  NP_001013277.3 


    ENSEMBL Gene Tree for SERPINA1 (if available)
    TreeFam Gene Tree for SERPINA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for SERPINA1 gene
    SERPING12  SERPINA102  SERPINA112  SERPINA72  SERPINA122  SERPINA92  SERPINF12  SERPINA52  
    SERPIND12  SERPINA42  SERPINA32  SERPINA62  SERPINF22  
    Selected SIMAP similar genes for SERPINA1 using alignment to 6 protein entries:     A1AT_HUMAN (see all proteins) (see all similar genes):
    AAT    PLANH2    SERPINA2    SERPINA2P    SCCA1    SERPINA12
    SERPINA3    SERPINA9    SERPINA11    SERPINA7    SERPINA4    SERPINA6
    SERPINB6    SERPINI2    SERPINB8    SERPINA5    SERPINB3    SERPINB4

    SERPINA1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SERPINA1
    PGOHUM00000258748


    (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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    A1AT_HUMAN, P01009: The sequence shown is that of the M1V allele which is the most common form of PI (44 to 49%). Other
    frequent alleles are: M1A 20 to 23%; M2 10 to 11%; M3 14 to 19%


    Selected SNPs for SERPINA1 (see all 656)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219127131,2
    Cpathogenic175835772(-) ACCCAG/TGTCTA 22 R M mis10--------
    rs66471,2,,4
    C,F,A,Hpathogenic175838289(-) CCAGGT/CGACCA 22 /A /V mis145Minor allele frequency- C:0.29MN NA NS EA WA CSA EU 10395
    rs1433709561,2
    C,Funtested175835824(+) CTCGTC/TGATGG 22 N D mis11Minor allele frequency- T:0.00NA 4546
    rs13031,2,,4
    C,F,O,A,Hother175835717(+) TTTTGT/GTCAAT 22 /E /D mis143Minor allele frequency- G:0.24MN EA NA NS WA EU 11576
    rs1994222091,2
    Cother175835739(-) CAAACC/TCTTTG 22 P L mis10--------
    rs1219127121,2,,4
    Cother175835758(-) CCCCCA/GAGGTC 22 K E mis10--------
    rs289294741,2,,4
    C,Fother175835821(-) TCGACG/AAGAAA 22 /K /E mis1 trp34Minor allele frequency- A:0.01NA EU 5991
    rs18029591,2,,4
    Cother175835839(-) ATAAGA/GCTGTG 22 T A mis10--------
    rs175801,2,,4
    C,Fother175838136(-) CCTGGA/TAAATG 22 E V mis120Minor allele frequency- T:0.03MN NS EA NA EU 8147
    rs1219127141,2
    C,Fother175838160(-) GCCTGA/TTGAGG 22 D V mis12Minor allele frequency- T:0.00NA EU 5875

    HapMap Linkage Disequilibrium report for SERPINA1 (94843084 - 94857030 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for SERPINA1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1406CNV Insertion18451855
    nsv513750CNV Insertion21212237
    nsv509545CNV Insertion20534489
    nsv512370CNV Loss21212237
    nsv832864CNV Loss17160897
    nsv470662CNV Gain18288195
    nsv832863CNV Gain17160897

    Human Gene Mutation Database (HGMD): SERPINA1
    Locus Specific Mutation Databases (LSDB): SERPINA1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SERPINA1
    DNA2.0 Custom Variant and Variant Library Synthesis for SERPINA1

    (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.)
    About This Section

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    OMIM gene information: 107400   
    OMIM disorders: 613490  606963  
    UniProtKB/Swiss-Prot: A1AT_HUMAN, P01009
  • Alpha-1-antitrypsin deficiency (A1ATD) [MIM:613490]: A disorder whose most common manifestation is
    emphysema, which becomes evident by the third to fourth decade. A less common manifestation of the deficiency is
    liver disease, which occurs in children and adults, and may result in cirrhosis and liver failure. Environmental
    factors, particularly cigarette smoking, greatly increase the risk of emphysema at an earlier age. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for SERPINA1 (see all 149):    
    About MalaCards
    liver disease    hemorrhagic diathesis due to \'antithrombin\' pittsburgh    alpha 1-antitrypsin deficiency    emphysema-cirrhosis, due to aat deficiency
    hepatic tuberculosis    emphysema due to aat deficiency    hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation    pulmonary disease, chronic obstructive
    diverticulitis    congenital granular cell tumor    boutonneuse fever    panniculitis
    pulmonary emphysema    pleuropulmonary blastoma    mycobacterium abscessus    pneumothorax
    fibromuscular dysplasia    congenital disorder of glycosylation type i    fibromyalgia    obstructive lung disease

    8 diseases from the University of Copenhagen DISEASES database for SERPINA1:
    Alpha 1-antitrypsin deficiency     Chronic obstructive pulmonary disease     Liver disease     Cystic fibrosis
    protein-losing enteropathy     Bronchitis     Panniculitis     Acute pancreatitis

    SERPINA1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for SERPINA1 gene (see all 95)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alpha 1-antitrypsin deficiency 89.2 2 1760450 (1), 7912884 (1)
    pulmonary emphysema 80.6 24 1395384 (1), 12853554 (1), 2117166 (1), 1504439 (1) (see all 19)
    emphysema panacinar 79.8 3 15497795 (1), 17136953 (1), 9447774 (1)
    lung diseases 69.9 79 17654345 (3), 7606551 (2), 7923455 (2), 18250185 (2) (see all 43)
    liver diseases 67.6 80 7606551 (3), 9169667 (3), 10935704 (3), 17204961 (2) (see all 46)
    genetic disorder 63 31 14594626 (1), 14616761 (1), 16312203 (1), 17389752 (1) (see all 29)
    pulmonary disease chronic obstructive 61.5 31 1980238 (1), 14594626 (1), 15823189 (1), 17389752 (1) (see all 29)
    panniculitis 56.3 20 15389208 (3), 9039946 (3), 19218787 (3), 16327507 (2) (see all 6)
    response acute phase 54.3 9 10588615 (2), 11199152 (1), 9434101 (1), 19010440 (1) (see all 5)
    cirrhosis 50.1 22 1307214 (3), 10836296 (2), 9169667 (2), 10735609 (1) (see all 12)

    GeneTests: SERPINA1
    GeneReviews: SERPINA1
    Genetic Association Database (GAD): SERPINA1
    Human Genome Epidemiology (HuGE) Navigator: SERPINA1 (105 documents)

    Export disorders for SERPINA1 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 SERPINA1 gene, integrated from 10 sources (see all 857):
    (articles sorted by number of sources associating them with SERPINA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin M-Mineral springs allele. (PubMed id 1967187)1, 2, 4 Curiel D.T.... Crystal R.G. (Mol. Cell. Biol. 1990)
    2. Polymorphisms in the SERPINA1 (Alpha-1-Antitrypsin) gene are associated with severe chronic rhinosinusitis unresponsive to medical therapy. (PubMed id 20109307)1, 4, 9 Kilty S.J....Desrosiers M.Y. (amp 2010)
    3. SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations. (PubMed id 18515255)1, 4, 9 Zorzetto M....Probst-Hensch N. (Clin. Chem. 2008)
    4. Isoelectric focusing phenotyping and denaturing gradient gel electrophoresis genotyping: a comparison of two methods in detection of alpha-1-antitrypsin variants. (PubMed id 18433707)1, 4, 9 Ljujic M....Radojkovic D. (Transl Res 2008)
    5. Prevalence of common HFE and SERPINA1 mutations in patients with hepatocellular carcinoma in a Moroccan population. (PubMed id 18164971)1, 4, 9 Ezzikouri S....Benjelloun S. (Arch. Med. Res. 2008)
    6. Prevalence of genetic polymorphisms in the promoter region of the alpha-1 antitrypsin (SERPINA1) gene in chronic liver disease: a case control study. (PubMed id 20170533)1, 4, 9 Kok K.F....Drenth J.P. (BMC Gastroenterol 2010)
    7. Determination of alpha 1-antitrypsin levels and of the presence of S and Z alleles in a population of patients with chronic respiratory symptoms. (PubMed id 19180336)1, 4, 9 Serra H.G....Paschoal I.A. (J Bras Pneumol 2008)
    8. Haplotypes of the alpha-1 antitrypsin gene in healthy controls and Z deficiency patients. (PubMed id 15532029)1, 4, 9 Chappell S....Kalsheker N. (Hum. Mutat. 2004)
    9. [Genetic predisposition to development of toxic liver cirrhosis caused by alcohol]. (PubMed id 11436564)1, 4, 9 Spitsyn V.A....Afanas'eva I.S. (Genetika 2001)
    10. Isolation and serine protease inhibitory activity of the 44-residue, C-terminal fragment of alpha 1-antitrypsin from human placenta. (PubMed id 1406456)1, 2, 9 Niemann M.A.... Miller E.J. (Matrix 1992)

    (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: 5265 HGNC: 8941 AceView: SERPINA1andSERPINA2 Ensembl:ENSG00000197249 euGenes: HUgn5265
    ECgene: SERPINA1 Kegg: 5265 H-InvDB: SERPINA1

    (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 SERPINA1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SERPINA1[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Alpha_1-antitrypsin

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SERPINA1 gene:
    Search GeneIP for patents involving SERPINA1

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



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