Display Settings:

Format

Send to:

Choose Destination

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

Gene ID: 5265, updated on 21-Jul-2014
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
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]
See SERPINA1 in Epigenomics, MapViewer
Location:
14q32.1
Exon count:
7
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 14 NC_000014.9 (94376747..94390692, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (94843084..94857029, complement)

Chromosome 14 - NC_000014.9Genomic 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 (gene/pseudogene) 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Alpha-1-antitrypsin deficiency
MedGen: C0221757 OMIM: 613490 GeneReviews: Alpha-1 Antitrypsin Deficiency
Compare labs
Chronic obstructive pulmonary disease
MedGen: C0024117 OMIM: 606963 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genetically distinct subsets within ANCA-associated vasculitis.
NHGRI GWA Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Serpin A1 competes with gp120-proteinase binding (in particular elastase-HIV-1 binding) and decreases the chances of HIV-1 fusion with the membrane followed by internalization PubMed
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
Pr55(Gag) gag 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 Gag55 processing, and is a powerful inhibitor of HIV replication PubMed

Go to the HIV-1, Human Protein Interaction Database

  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC9222, MGC23330

Gene Ontology Provided by GOA

Function Evidence Code Pubs
glycoprotein binding IPI
Inferred from Physical Interaction
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
 
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 IEA
Inferred from Electronic Annotation
more info
 
response to estradiol 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 triglyceride IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
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 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
platelet alpha granule lumen TAS
Traceable Author Statement
more info
 
proteinaceous extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
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

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 

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

mRNA and Protein(s)

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

    See proteins identical to NP_000286.3

    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
    Conserved Domains (1) summary
    cd02056
    Location:55412
    Blast Score: 1558
    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, ...
  2. NM_001002235.2NP_001002235.1  alpha-1-antitrypsin precursor

    See proteins identical to NP_001002235.1

    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 (1) summary
    cd02056
    Location:55412
    Blast Score: 1558
    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, ...
  3. NM_001002236.2NP_001002236.1  alpha-1-antitrypsin precursor

    See proteins identical to NP_001002236.1

    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
    Conserved Domains (1) summary
    cd02056
    Location:55412
    Blast Score: 1558
    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, ...
  4. NM_001127700.1NP_001121172.1  alpha-1-antitrypsin precursor

    See proteins identical to NP_001121172.1

    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 (1) summary
    cd02056
    Location:55412
    Blast Score: 1558
    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, ...
  5. NM_001127701.1NP_001121173.1  alpha-1-antitrypsin precursor

    See proteins identical to NP_001121173.1

    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 (1) summary
    cd02056
    Location:55412
    Blast Score: 1558
    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, ...
  6. NM_001127702.1NP_001121174.1  alpha-1-antitrypsin precursor

    See proteins identical to NP_001121174.1

    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 (1) summary
    cd02056
    Location:55412
    Blast Score: 1558
    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, ...
  7. NM_001127703.1NP_001121175.1  alpha-1-antitrypsin precursor

    See proteins identical to NP_001121175.1

    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 (1) summary
    cd02056
    Location:55412
    Blast Score: 1558
    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, ...
  8. NM_001127704.1NP_001121176.1  alpha-1-antitrypsin precursor

    See proteins identical to NP_001121176.1

    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 (1) summary
    cd02056
    Location:55412
    Blast Score: 1558
    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, ...
  9. NM_001127705.1NP_001121177.1  alpha-1-antitrypsin precursor

    See proteins identical to NP_001121177.1

    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 (1) summary
    cd02056
    Location:55412
    Blast Score: 1558
    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, ...
  10. NM_001127706.1NP_001121178.1  alpha-1-antitrypsin precursor

    See proteins identical to NP_001121178.1

    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
    Conserved Domains (1) summary
    cd02056
    Location:55412
    Blast Score: 1558
    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, ...
  11. NM_001127707.1NP_001121179.1  alpha-1-antitrypsin precursor

    See proteins identical to NP_001121179.1

    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
    Conserved Domains (1) summary
    cd02056
    Location:55412
    Blast Score: 1558
    alpha-1-antitrypsin_like; alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 ALT_REF_LOCI_1

Genomic

  1. NT_187601.1 

    Range
    1493319..1507264
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000014.9 

    Range
    94376747..94390692
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000146.1 

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

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 

    Range
    94780885..94794830
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)