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SERPINA1 serpin family A member 1 [ Homo sapiens (human) ]

Gene ID: 5265, updated on 5-Jul-2020

Summary

Official Symbol
SERPINA1provided by HGNC
Official Full Name
serpin family A member 1provided by HGNC
Primary source
HGNC:HGNC:8941
See related
Ensembl:ENSG00000197249 MIM:107400
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; nNIF; 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]
Expression
Biased expression in liver (RPKM 3603.5) and small intestine (RPKM 158.3) See more
Orthologs

Genomic context

See SERPINA1 in Genome Data Viewer
Location:
14q32.13
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (94376747..94390654, 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 family A member 6 Neighboring gene serpin family A member 2 (gene/pseudogene) Neighboring gene serpin family A member 11 Neighboring gene uncharacterized LOC105370635

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Alpha-1-antitrypsin deficiency
MedGen: C0221757 OMIM: 613490 GeneReviews: Alpha-1 Antitrypsin Deficiency
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

HIV-1 interactions

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 Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC9222, MGC23330

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 IBA
Inferred from Biological aspect of Ancestor
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
COPII vesicle coating TAS
Traceable Author Statement
more info
 
ER to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
acute-phase response IEA
Inferred from Electronic Annotation
more info
 
blood coagulation IEA
Inferred from Electronic Annotation
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
negative regulation of endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
platelet degranulation TAS
Traceable Author Statement
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
COPII-coated ER to Golgi transport vesicle TAS
Traceable Author Statement
more info
 
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
collagen-containing extracellular matrix HDA PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
endoplasmic reticulum-Golgi intermediate compartment membrane TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space IMP
Inferred from Mutant Phenotype
more info
PubMed 
ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
platelet alpha granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
alpha-1-antitrypsin
Names
alpha-1 antitrypsin
alpha-1 protease inhibitor
alpha-1-antiproteinase
alpha-1-antitrypsin null
alpha-1-antitrypsin short transcript variant 1C4
alpha-1-antitrypsin short transcript variant 1C5
epididymis secretory sperm binding protein
protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin
serine (or cysteine) proteinase inhibitor, clade A, member 1
serpin A1
serpin peptidase inhibitor clade A (alpha-1antiproteinase, antitrypsin) member 1
serpin peptidase inhibitor clade A member 1
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1

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
    7091..18946
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000295.5NP_000286.3  alpha-1-antitrypsin precursor

    See identical proteins and their annotated locations for 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/Swiss-Prot
    P01009
    UniProtKB/TrEMBL
    E9KL23
    Related
    ENSP00000376802.4, ENST00000393087.9
    Conserved Domains (1) summary
    cd02056
    Location:55412
    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_001002235.3NP_001002235.1  alpha-1-antitrypsin precursor

    See identical proteins and their annotated locations for 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/Swiss-Prot
    P01009
    UniProtKB/TrEMBL
    E9KL23
    Related
    ENSP00000390299.1, ENST00000440909.5
    Conserved Domains (1) summary
    cd02056
    Location:55412
    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_001002236.3NP_001002236.1  alpha-1-antitrypsin precursor

    See identical proteins and their annotated locations for 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/Swiss-Prot
    P01009
    UniProtKB/TrEMBL
    E9KL23
    Related
    ENSP00000376803.4, ENST00000393088.8
    Conserved Domains (1) summary
    cd02056
    Location:55412
    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_001127700.2NP_001121172.1  alpha-1-antitrypsin precursor

    See identical proteins and their annotated locations for 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
    Consensus CDS
    CCDS9925.1
    UniProtKB/Swiss-Prot
    P01009
    UniProtKB/TrEMBL
    E9KL23
    Related
    ENSP00000348068.4, ENST00000355814.8
    Conserved Domains (1) summary
    cd02056
    Location:55412
    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_001127701.2NP_001121173.1  alpha-1-antitrypsin precursor

    See identical proteins and their annotated locations for 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/Swiss-Prot
    P01009
    UniProtKB/TrEMBL
    E9KL23
    Related
    ENSP00000416066.1, ENST00000448921.5
    Conserved Domains (1) summary
    cd02056
    Location:55412
    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_001127702.2NP_001121174.1  alpha-1-antitrypsin precursor

    See identical proteins and their annotated locations for 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/Swiss-Prot
    P01009
    UniProtKB/TrEMBL
    E9KL23
    Related
    ENSP00000408474.1, ENST00000437397.5
    Conserved Domains (1) summary
    cd02056
    Location:55412
    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_001127703.2NP_001121175.1  alpha-1-antitrypsin precursor

    See identical proteins and their annotated locations for 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/Swiss-Prot
    P01009
    UniProtKB/TrEMBL
    E9KL23
    Conserved Domains (1) summary
    cd02056
    Location:55412
    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_001127704.2NP_001121176.1  alpha-1-antitrypsin precursor

    See identical proteins and their annotated locations for 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/Swiss-Prot
    P01009
    UniProtKB/TrEMBL
    E9KL23
    Conserved Domains (1) summary
    cd02056
    Location:55412
    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_001127705.2NP_001121177.1  alpha-1-antitrypsin precursor

    See identical proteins and their annotated locations for 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/Swiss-Prot
    P01009
    UniProtKB/TrEMBL
    E9KL23
    Conserved Domains (1) summary
    cd02056
    Location:55412
    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_001127706.2NP_001121178.1  alpha-1-antitrypsin precursor

    See identical proteins and their annotated locations for 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
    Consensus CDS
    CCDS9925.1
    UniProtKB/Swiss-Prot
    P01009
    UniProtKB/TrEMBL
    E9KL23
    Related
    ENSP00000416354.3, ENST00000449399.7
    Conserved Domains (1) summary
    cd02056
    Location:55412
    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_001127707.2NP_001121179.1  alpha-1-antitrypsin precursor

    See identical proteins and their annotated locations for 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/Swiss-Prot
    P01009
    UniProtKB/TrEMBL
    E9KL23
    Related
    ENSP00000385960.4, ENST00000404814.8
    Conserved Domains (1) summary
    cd02056
    Location:55412
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    94376747..94390654 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021370.1XP_016876859.1  alpha-1-antitrypsin isoform X1

    UniProtKB/Swiss-Prot
    P01009
    UniProtKB/TrEMBL
    E9KL23
    Related
    ENSP00000490054.1, ENST00000636712.1
    Conserved Domains (1) summary
    cd02056
    Location:55412
    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, ...

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187601.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    1493319..1507207 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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