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Serpina1a serine (or cysteine) peptidase inhibitor, clade A, member 1A [ Mus musculus (house mouse) ]

Gene ID: 20700, updated on 2-Nov-2024

Summary

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Official Symbol
Serpina1aprovided by MGI
Official Full Name
serine (or cysteine) peptidase inhibitor, clade A, member 1Aprovided by MGI
Primary source
MGI:MGI:891971
See related
Ensembl:ENSMUSG00000066366 AllianceGenome:MGI:891971
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
PI1; Aat2; Dom1; Aat-2; Spi1-1; Spi1-3
Summary
Predicted to enable identical protein binding activity; protease binding activity; and serine-type endopeptidase inhibitor activity. Acts upstream of or within protein N-linked glycosylation; response to cytokine; and response to peptide hormone. Located in extracellular region. Is expressed in gut; liver lobe; and renal calyx. Human ortholog(s) of this gene implicated in several diseases, including alpha 1-antitrypsin deficiency; artery disease (multiple); chronic obstructive pulmonary disease (multiple); inflammatory bowel disease (multiple); and liver disease (multiple). Orthologous to human SERPINA1 (serpin family A member 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in liver adult (RPKM 5233.4), liver E18 (RPKM 1837.1) and 2 other tissues See more
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Genomic context

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See Serpina1a in Genome Data Viewer
Location:
12 E; 12 52.98 cM
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (103819554..103829878, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (103853295..103863619, complement)

Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene serine (or cysteine) preptidase inhibitor, clade A, member 1B pseudogene Neighboring gene serine (or cysteine) preptidase inhibitor, clade A, member 1B pseudogene Neighboring gene serine (or cysteine) preptidase inhibitor, clade A, member 1B pseudogene Neighboring gene serine (or cysteine) peptidase inhibitor, clade A, member 1C

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Deletion of Serpina1a, a murine α1-antitrypsin ortholog, results in embryonic lethality. Wang D, et al. Exp Lung Res, 2011 Jun. PMID 21574874
  2. A single-chain variable fragment intrabody prevents intracellular polymerization of Z α1-antitrypsin while allowing its antiproteinase activity. Ordóñez A, et al. FASEB J, 2015 Jun. PMID 25757566, Free PMC Article
  3. Oxidative stress contributes to liver damage in a murine model of alpha-1-antitrypsin deficiency. Marcus NY, et al. Exp Biol Med (Maywood), 2012 Oct. PMID 23104507, Free PMC Article
  4. Alpha 1-antitrypsin reduces inflammation and enhances mouse pancreatic islet transplant survival. Koulmanda M, et al. Proc Natl Acad Sci U S A, 2012 Sep 18. PMID 22949661, Free PMC Article
  5. Alpha-1 antitrypsin is markedly decreased following pulmonary F. tularensis challenge. Chambers JP, et al. Front Cell Infect Microbiol, 2011. PMID 22919586, Free PMC Article

See all (54) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Lipoproteins in Negative Feedback with Alpha-1 Antitrypsin.
    Title: Lipoproteins in Negative Feedback with Alpha-1 Antitrypsin.
  2. Sirtuin3 promotes the degradation of hepatic Z alpha-1 antitrypsin through lipophagy.
    Title: Sirtuin3 promotes the degradation of hepatic Z alpha-1 antitrypsin through lipophagy.
  3. Increased expression or activation of TRPML1 reduces hepatic storage of toxic Z alpha-1 antitrypsin.
    Title: Increased expression or activation of TRPML1 reduces hepatic storage of toxic Z alpha-1 antitrypsin.
  4. Loss of Serpina1 in Mice Leads to Altered Gene Expression in Inflammatory and Metabolic Pathways.
    Title: Loss of Serpina1 in Mice Leads to Altered Gene Expression in Inflammatory and Metabolic Pathways.
  5. alpha1-Antitrypsin alleviates inflammation and oxidative stress by suppressing autophagy in asthma.
    Title: α1-Antitrypsin alleviates inflammation and oxidative stress by suppressing autophagy in asthma.
  6. Placental HTRA1 cleaves alpha1-antitrypsin to generate a NET-inhibitory peptide.
    Title: Placental HTRA1 cleaves α1-antitrypsin to generate a NET-inhibitory peptide.
  7. Alpha-1 antitrypsin governs alcohol-related liver disease in mice and humans.
    Title: Alpha-1 antitrypsin governs alcohol-related liver disease in mice and humans.
  8. Knockdown of Alpha-1 Antitrypsin with antisense oligonucleotide does not exacerbate smoke induced lung injury.
    Title: Knockdown of Alpha-1 Antitrypsin with antisense oligonucleotide does not exacerbate smoke induced lung injury.
  9. A combined in silico and in vitro study on mouse Serpina1a antitrypsin-deficiency mutants.
    Title: A combined in silico and in vitro study on mouse Serpina1a antitrypsin-deficiency mutants.
  10. Novel RNA-binding activity of NQO1 promotes SERPINA1 mRNA translation.
    Title: Novel RNA-binding activity of NQO1 promotes SERPINA1 mRNA translation.
Submit: New GeneRIF Correction See all GeneRIFs (25)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC117839

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables endopeptidase inhibitor activity ISO
Inferred from Sequence Orthology
more info
  
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables protease binding ISO
Inferred from Sequence Orthology
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables serine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
  
enables serine-type endopeptidase inhibitor activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in acute-phase response IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of peptidase activity IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within protein N-linked glycosylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to chromate ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within response to cytokine IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to lead ion ISO
Inferred from Sequence Orthology
more info
  
involved_in response to methanol ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within response to peptide hormone IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
  
located_in collagen-containing extracellular matrix HDA PubMed 
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
  
located_in extracellular region IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular space IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular space ISO
Inferred from Sequence Orthology
more info
  
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
alpha-1-antitrypsin 1-1
Names
AAT
alpha-1 protease inhibitor 1
alpha-1-antiproteinase
alpha-1-antitrypsin 2
serine (or cysteine) proteinase inhibitor, clade A, member 1a
serine protease inhibitor 1-1
serine protease inhibitor A1a
serpin A1a

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001252569.1 → NP_001239498.1  alpha-1-antitrypsin 1-1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an additional exon in the 5' region, which includes an upstream in-frame AUG start codon, compared to variant 1. The resulting isoform (2) has a longer N-terminus, compared to isoform 1.
    Source sequence(s)
    AC098741, AC134902
    Consensus CDS
    CCDS79152.1
    UniProtKB/Swiss-Prot
    P81105, Q00896, Q91V74, Q91WH5, Q91XC1
    UniProtKB/TrEMBL
    A0A0A0MQA3
    Related
    ENSMUSP00000072652.7, ENSMUST00000072876.12
    Conserved Domains (1) summary
    smart00093
    Location:76 → 433
    SERPIN; SERine Proteinase INhibitors

  2. NM_009243.4 → NP_033269.1  alpha-1-antitrypsin 1-1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_033269.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) is the predominant transcript and encodes the shorter isoform (1).
    Source sequence(s)
    AC134902, AK146619, CJ238440, W82055
    Consensus CDS
    CCDS26140.1
    UniProtKB/Swiss-Prot
    P07758, P81105, Q00896, Q3UJ47, Q80YB8, Q8JZV6, Q91V74, Q91WH5, Q91XB8, Q91XC1
    Related
    ENSMUSP00000082132.7, ENSMUST00000085056.8
    Conserved Domains (1) summary
    smart00093
    Location:53 → 410
    SERPIN; SERine Proteinase INhibitors

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000078.7 Reference GRCm39 C57BL/6J

    Range
    103819554..103829878 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P07758.4 GenPept UniProtKB/Swiss-Prot:P07758

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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