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    SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 [ Homo sapiens ]

    Gene ID: 5265, updated on 13-May-2012
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    Summary

    Official Symbol
    SERPINA1provided by HGNC
    Official Full Name
    serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1provided by HGNC
    Primary source
    HGNC:8941
    Locus tag
    PRO0684
    See related
    Ensembl:ENSG00000197249; HPRD:02463; MIM:107400; Vega:OTTHUMG00000150355
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PI; A1A; AAT; PI1; A1AT; PRO2275; alpha1AT; MGC9222; MGC23330
    Summary
    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]
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    Genomic context

    Location :
    14q32.1
    Sequence :
    Chromosome: 14; NC_000014.8 (94843084..94857029, complement)
    See SERPINA1 in Epigenomics, MapViewer

    Chromosome 14 - NC_000014.8Genomic Context describing neighboring genes Neighboring gene serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 Neighboring gene serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2 Neighboring gene serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 Neighboring gene serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Folding mechanism of the metastable serpin α1-antitrypsin. Tsutsui Y, et al. Proc Natl Acad Sci U S A, 2012 Mar 20. PMID 22392975.
    2. α1-antitrypsin deficiency in fraternal twins born with familial spontaneous pneumothorax. Greene DN, et al. Chest, 2012 Jan. PMID 22215832.
    3. [Molecular genetic studies in occupational medicine]. Izmerov NF, et al. Gig Sanit, 2011 Sep-Oct. PMID 22184992.
    4. Therapeutic target-site variability in α1-antitrypsin characterized at high resolution. Patschull AO, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2011 Dec 1. PMID 22139150.
    5. Relation of functional characteristics and serum alpha-1-antitrypsin (AAT) concentration in patients with PiMM phenotype and chronic obstructive pulmonary disease (COPD). Zarić B, et al. Eur J Intern Med, 2011 Dec. PMID 22075288.

    See all (358) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. analysis of the folding mechanism of the metastable serpin alpha1-antitrypsin
      Title: Folding mechanism of the metastable serpin α1-antitrypsin.
    2. AAT deficiency is known to cause a variety of respiratory symptoms that generally present in the third or fourth decade of life. The AAT protein is encoded by the SERPINA1 gene and inheritance is autosomal codominant.
      Title: α1-antitrypsin deficiency in fraternal twins born with familial spontaneous pneumothorax.
    3. The SNP rs6609533 of TIMP-1 gene interacted with PIM3 of alpha(1)AT to make a possible risk combination for development of COPD.
      Title: Combinatorial effect of TIMP-1 and α1AT gene polymorphisms on development of chronic obstructive pulmonary disease.
    4. Data sshow that that plasmid-derived circulating hAAT protects islet allografts from acute rejection.
      Title: α-1-antitrypsin gene delivery reduces inflammation, increases T-regulatory cell population size and prevents islet allograft rejection.
    5. solved the highest resolution (1.8 A degrees ) crystal structure of alpha1- antitrypsin.
      Title: Therapeutic target-site variability in α1-antitrypsin characterized at high resolution.
    6. All of the investigated patients with severe COPD were MM type homozygotes with normal plasma level of AAT with no significant correlation between the phenotype and severity of chronic obstructive pulmonary disease.
      Title: Relation of functional characteristics and serum alpha-1-antitrypsin (AAT) concentration in patients with PiMM phenotype and chronic obstructive pulmonary disease (COPD).
    7. Combination of polymorphism of MMP-1 and alpha1-proteinase inhibitor genes is characterized by the concurrence of bronchopulmonary and skin diseases.
      Title: [Molecular genetic studies in occupational medicine].
    8. Aim of this study is to determine the prevalence of AT deficiency in Turkish population and to define the cutoff value of AT level in serum to detect heterozygous AT deficient subjects.
      Title: Cutoff level to detect heterozygous alpha 1 antitrypsin deficiency in Turkish population.
    9. results showed high prevalence of AAT deficiency allele in the Saudi population; of 158 subjects, 11.39% were carriers for S mutation, 2.53% were carriers for Z mutation; SZ genotype was present in 3.8%; SS genotype was present in 1.9%
      Title: Prevalence of α-1-antitrypsin gene mutations in Saudi Arabia.
    10. the Z but not the S deficiency allele is associated with ANCA-associated vasculitis; alpha1AT polymers are present in serum and glomeruli of some patients with Z allele, which may promote inflammation through neutrophil priming
      Title: ANCA-associated vasculitis is linked to carriage of the Z allele of α₁ antitrypsin and its polymers.
    Submit: New GeneRIF Correction See all (188)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Hemorrhagic diathesis due to 'antithrombin' Pittsburgh

    Pulmonary disease, chronic obstructive, susceptibility to

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env Alpha1-Antitrypsin (alpha(1)AT) is cleaved by serine proteases, causing a conformational change in alpha(1)AT that sequesters HIV-1 protease, blocks both gp160 and p55 processing, and is a powerful inhibitor of HIV replication PubMed

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_000286.3 NP_001902.1 CTSG    BIND  PubMed Alpha-1 PI interacts with and inhibits cathepsin G. 
    NP_000286.3 NP_001963.1 ELANE    BIND  PubMed Alpha-1 PI interacts with and inhibits neutrophil elastase. 
    NP_000286.3 NP_002323.1 LRP1    BIND  PubMed LRP interacts with alpha-1-PI. 
    P01009 O75173 ADAMTS4    HPRD  PubMed  
    P01009 Q9UNI1 CELA1    HPRD  PubMed  
    P01009 P17538 CTRB1    HPRD  PubMed  
    P01009 P08311 CTSG    HPRD  PubMed  
    P01009 Q9GZP9 DERL2    HPRD  PubMed  
    P01009 Q96Q80 DERL3    HPRD  PubMed  
    P01009 P08246 ELANE    HPRD  PubMed  
    P01009 P07288 KLK3    HPRD  PubMed  
    P01009 Q9Y337 KLK5    HPRD  PubMed  
    P01009 Q07954 LRP1    HPRD  PubMed  
    P01009 P24347 MMP11    HPRD  PubMed  
    P01009 Q9NRE1 MMP26    HPRD  PubMed  
    P01009 P09237 MMP7    HPRD  PubMed  
    P01009 P07477 PRSS1    HPRD  PubMed  
    P01009 P07478 PRSS2    HPRD  PubMed  
    P01009 P35030 PRSS3    HPRD  PubMed  
    P01009 P24158 PRTN3    HPRD  PubMed  
    P01009 P01009 SERPINA1    HPRD  PubMed  
    BioGRID:111283 BioGRID:108306 ELANE    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111283 BioGRID:117538 KLK13    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111283 BioGRID:106850 KLK3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111283 BioGRID:122474 MIS12    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111283 BioGRID:111638 PRTN3    BioGRID  PubMed Biochemical Activity 
    BioGRID:111283 BioGRID:111846 RAP2A    BioGRID  PubMed Two-hybrid 
    BioGRID:111283 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-Western 
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    General gene information

    Markers

    Genotypes

    Pathways from BioSystems

    • Complement and Coagulation Cascades, organism-specific biosystem (from WikiPathways)
      Complement and Coagulation Cascades, organism-specific biosystemBlood coagulation is a series of coordinated and calcium-dependent proenzyme-to-serine protease conversions likely to be localized on the surfaces of activated cells in vivo. It culminates in the for...
    • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
      Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • Complement and coagulation cascades, conserved biosystem (from KEGG)
      Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • FOXA1 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      FOXA1 transcription factor network, organism-specific biosystem
      FOXA1 transcription factor network
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
      Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
    • Platelet degranulation, organism-specific biosystem (from REACTOME)
      Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
    • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
      Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protease binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    serine-type endopeptidase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    serine-type endopeptidase inhibitor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acute-phase response IEA
    Inferred from Electronic Annotation
    more info
    		  
    blood coagulation TAS
    Traceable Author Statement
    more info
    		  
    inflammatory response IEA
    Inferred from Electronic Annotation
    more info
    		  
    negative regulation of endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    platelet activation TAS
    Traceable Author Statement
    more info
    		  
    platelet degranulation TAS
    Traceable Author Statement
    more info
    		  
    regulation of proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    response to chromate IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to cytokine stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to estradiol stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to lead ion IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to methanol IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to triglyceride IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    extracellular region NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
    		  
    extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    extracellular space IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
    		  
    proteinaceous extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    alpha-1-antitrypsin
    Names
    alpha-1-antitrypsin
    serpin A1
    alpha-1-antiproteinase
    alpha-1-antitrypsin null
    alpha-1 protease inhibitor
    protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin
    serine (or cysteine) proteinase inhibitor, clade A, member 1
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

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

    Genomic

    1. NG_008290.1 RefSeqGene

      Range
      5001..18946
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000295.4 → NP_000286.3  alpha-1-antitrypsin precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the same protein as the other ten variants of this gene.
      Source sequence(s)
      AK026174, AL132708, DA966896
      Consensus CDS
      CCDS9925.1
      UniProtKB/TrEMBL
      E9KL23
      UniProtKB/Swiss-Prot
      P01009
      Related
      ENSP00000376802, OTTHUMP00000197153, ENST00000393087, OTTHUMT00000317770
      Conserved Domains (2) summary
      cd02056
      Location:55 – 412
      Blast Score: 1394
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...
      PHA02660
      Location:48 – 415
      Blast Score: 199
      PHA02660; serpin-like protein; Provisional

    2. NM_001002235.2 → NP_001002235.1  alpha-1-antitrypsin precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
      Source sequence(s)
      AL132708, BX161449, DA428299
      Consensus CDS
      CCDS9925.1
      UniProtKB/TrEMBL
      E9KL23
      UniProtKB/Swiss-Prot
      P01009
      Related
      ENSP00000390299, OTTHUMP00000197150, ENST00000440909, OTTHUMT00000317767
      Conserved Domains (2) summary
      cd02056
      Location:55 – 412
      Blast Score: 1394
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...
      PHA02660
      Location:48 – 415
      Blast Score: 199
      PHA02660; serpin-like protein; Provisional

    3. NM_001002236.2 → NP_001002236.1  alpha-1-antitrypsin precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
      Source sequence(s)
      AL132708, BX247968, DA428299
      Consensus CDS
      CCDS9925.1
      UniProtKB/TrEMBL
      E9KL23
      UniProtKB/Swiss-Prot
      P01009
      Related
      ENSP00000376803, OTTHUMP00000197151, ENST00000393088, OTTHUMT00000317768
      Conserved Domains (2) summary
      cd02056
      Location:55 – 412
      Blast Score: 1394
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...
      PHA02660
      Location:48 – 415
      Blast Score: 199
      PHA02660; serpin-like protein; Provisional

    4. NM_001127700.1 → NP_001121172.1  alpha-1-antitrypsin precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
      Source sequence(s)
      AL132708, BX247968, DA427262, DA428299
      Consensus CDS
      CCDS9925.1
      UniProtKB/TrEMBL
      E9KL23
      UniProtKB/Swiss-Prot
      P01009
      Related
      ENSP00000348068, ENST00000355814
      Conserved Domains (2) summary
      cd02056
      Location:55 – 412
      Blast Score: 1394
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...
      PHA02660
      Location:48 – 415
      Blast Score: 199
      PHA02660; serpin-like protein; Provisional

    5. NM_001127701.1 → NP_001121173.1  alpha-1-antitrypsin precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
      Source sequence(s)
      AL132708, BX247968, DA428299, DA672472
      Consensus CDS
      CCDS9925.1
      UniProtKB/TrEMBL
      E9KL23
      UniProtKB/Swiss-Prot
      P01009
      Related
      ENSP00000416066, ENST00000448921
      Conserved Domains (2) summary
      cd02056
      Location:55 – 412
      Blast Score: 1394
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...
      PHA02660
      Location:48 – 415
      Blast Score: 199
      PHA02660; serpin-like protein; Provisional

    6. NM_001127702.1 → NP_001121174.1  alpha-1-antitrypsin precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
      Source sequence(s)
      AL132708, BP301274, BX247968, DA428299
      Consensus CDS
      CCDS9925.1
      UniProtKB/TrEMBL
      E9KL23
      UniProtKB/Swiss-Prot
      P01009
      Related
      ENSP00000408474, ENST00000437397
      Conserved Domains (2) summary
      cd02056
      Location:55 – 412
      Blast Score: 1394
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...
      PHA02660
      Location:48 – 415
      Blast Score: 199
      PHA02660; serpin-like protein; Provisional

    7. NM_001127703.1 → NP_001121175.1  alpha-1-antitrypsin precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
      Source sequence(s)
      AL132708, BX247968, CD685665, DA428299, DA433050
      Consensus CDS
      CCDS9925.1
      UniProtKB/TrEMBL
      E9KL23
      UniProtKB/Swiss-Prot
      P01009
      Conserved Domains (2) summary
      cd02056
      Location:55 – 412
      Blast Score: 1394
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...
      PHA02660
      Location:48 – 415
      Blast Score: 199
      PHA02660; serpin-like protein; Provisional

    8. NM_001127704.1 → NP_001121176.1  alpha-1-antitrypsin precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
      Source sequence(s)
      AL132708, BX247968, DA428299, DA433058
      Consensus CDS
      CCDS9925.1
      UniProtKB/TrEMBL
      E9KL23
      UniProtKB/Swiss-Prot
      P01009
      Conserved Domains (2) summary
      cd02056
      Location:55 – 412
      Blast Score: 1394
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...
      PHA02660
      Location:48 – 415
      Blast Score: 199
      PHA02660; serpin-like protein; Provisional

    9. NM_001127705.1 → NP_001121177.1  alpha-1-antitrypsin precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
      Source sequence(s)
      AL132708, BX247968, DA428299, DA675981
      Consensus CDS
      CCDS9925.1
      UniProtKB/TrEMBL
      E9KL23
      UniProtKB/Swiss-Prot
      P01009
      Conserved Domains (2) summary
      cd02056
      Location:55 – 412
      Blast Score: 1394
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...
      PHA02660
      Location:48 – 415
      Blast Score: 199
      PHA02660; serpin-like protein; Provisional

    10. NM_001127706.1 → NP_001121178.1  alpha-1-antitrypsin precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
      Source sequence(s)
      AL132708, BP300943, BX247968, DA428299
      Consensus CDS
      CCDS9925.1
      UniProtKB/TrEMBL
      E9KL23
      UniProtKB/Swiss-Prot
      P01009
      Related
      ENSP00000416354, OTTHUMP00000245864, ENST00000449399, OTTHUMT00000413069
      Conserved Domains (2) summary
      cd02056
      Location:55 – 412
      Blast Score: 1394
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...
      PHA02660
      Location:48 – 415
      Blast Score: 199
      PHA02660; serpin-like protein; Provisional

    11. NM_001127707.1 → NP_001121179.1  alpha-1-antitrypsin precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) differs in the 5' UTR compared to variant 1. All eleven variants encode the same protein.
      Source sequence(s)
      AL132708, BP296710, BX247968, DA428299
      Consensus CDS
      CCDS9925.1
      UniProtKB/TrEMBL
      E9KL23
      UniProtKB/Swiss-Prot
      P01009
      Related
      ENSP00000385960, OTTHUMP00000197152, ENST00000404814, OTTHUMT00000317769
      Conserved Domains (2) summary
      cd02056
      Location:55 – 412
      Blast Score: 1394
      alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...
      PHA02660
      Location:48 – 415
      Blast Score: 199
      PHA02660; serpin-like protein; Provisional

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000014.8 Reference GRCh37.p5 Primary Assembly

      Range
      94843084..94857029, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000146.1 Alternate HuRef

      Range
      75022652..75036601, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL132708.3 (138277..139905) None
    genomic CH471061.1 EAW81570.1
      EAW81571.1
      EAW81572.1
      EAW81573.1
      EAW81574.1
      EAW81575.1
      EAW81576.1
    genomic DQ174461.1 ABA41642.1
    genomic DQ343612.1 ABC62080.1
    genomic J00064.1 AAB59369.1
    genomic J00066.1 AAB59370.1
    genomic J00067.1 AAB59371.1
    genomic J02619.1 AAA51547.1
    genomic K02212.1 AAB59495.1
    mRNA AA317159.1 None
    mRNA AF119873.1 AAF69627.1
    mRNA AK026174.1 None
    mRNA AK315637.1 BAG38005.1
    mRNA BC011991.1 AAH11991.1
    mRNA BC015642.2 AAH15642.1
    mRNA BC070163.1 None
    mRNA BG483969.1 None
    mRNA BM844817.1 None
    mRNA BM923322.1 None
    mRNA BP296710.1 None
    mRNA BP300943.1 None
    mRNA BP301274.1 None
    mRNA BT019455.1 AAV38262.1
    mRNA BX161449.1 CAD61914.1
    mRNA BX247968.1 CAD62306.1
    mRNA BX248002.1 CAD62334.1
    mRNA BX248257.1 CAD62585.1
    mRNA BX477352.1 None
    mRNA CD685665.1 None
    mRNA DA427262.1 None
    mRNA DA428299.1 None
    mRNA DA433050.1 None
    mRNA DA433058.1 None
    mRNA DA672472.1 None
    mRNA DA675981.1 None
    mRNA DA966896.1 None
    mRNA DQ682455.1 ABG73380.1
    mRNA FJ830375.1 ACO55054.1
    mRNA GU727620.1 ADU87622.1
    mRNA K01396.1 AAB59375.1
    mRNA M11465.1 AAA51546.1
    mRNA M26123.1 AAA51545.1
    mRNA V00496.1 CAA23755.1
    mRNA X01683.1 CAA25838.1
    mRNA X02920.1 CAA26677.1
    mRNA X05826.1 CAA29267.1
    mRNA X05827.1 None
    mRNA X17122.1 CAA34982.1
    other-genetic HQ448245.1 ADQ32725.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P01009.3 GenPept UniProtKB/Swiss-Prot:P01009
    Q13747 GenPept UniProtKB/TrEMBL:Q13747
    Q2L9S7 GenPept UniProtKB/TrEMBL:Q2L9S7
    Q3I0J7 GenPept UniProtKB/TrEMBL:Q3I0J7
    Q9P173 GenPept UniProtKB/TrEMBL:Q9P173
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