SERPINA1 Gene (Protein Coding)

Serpin Family A Member 1

GC14M094376
GIFtS:
50
The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. This protein is produced in the liver, the bone marrow, by lymphocytic and monocytic cells in lymphoid tissue, and by the Paneth cells of the gut. Defects in this gene are associa... See more...

Aliases for SERPINA1 Gene

Aliases for SERPINA1 Gene

  • Serpin Family A Member 1 2 3 5
  • Alpha-1-Antitrypsin 2 3 4
  • AAT 2 3 4
  • Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 1 2 3
  • Protease Inhibitor 1 (Anti-Elastase), Alpha-1-Antitrypsin 2 3
  • Alpha-1 Protease Inhibitor 3 4
  • Alpha-1-Antiproteinase 3 4
  • Serpin A1 3 4
  • Alpha1AT 2 3
  • A1AT 2 3
  • A1A 2 3
  • PI1 2 3
  • PI 3 4
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 1 2
  • Serpin Peptidase Inhibitor Clade A (Alpha-1antiproteinase, Antitrypsin) Member 1 3
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade A, Member 1 3
  • Alpha-1-Antitrypsin Short Transcript Variant 1C4 3
  • Alpha-1-Antitrypsin Short Transcript Variant 1C5 3
  • Serpin Peptidase Inhibitor Clade A Member 1 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Alpha-1 Antitrypsin 3
  • SERPINA1 5
  • PRO2275 3
  • NNIF 3

External Ids for SERPINA1 Gene

Previous HGNC Symbols for SERPINA1 Gene

  • PI

Previous GeneCards Identifiers for SERPINA1 Gene

  • GC14M092351
  • GC14M088661
  • GC14M092834
  • GC14M093914
  • GC14M094843
  • GC14M075022

Summaries for SERPINA1 Gene

Entrez Gene Summary for SERPINA1 Gene

  • The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. This protein is produced in the liver, the bone marrow, by lymphocytic and monocytic cells in lymphoid tissue, and by the Paneth cells of the gut. Defects in this gene are associated with chronic obstructive pulmonary disease, emphysema, and chronic liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020]

GeneCards Summary for SERPINA1 Gene

SERPINA1 (Serpin Family A Member 1) is a Protein Coding gene. Diseases associated with SERPINA1 include Alpha-1-Antitrypsin Deficiency and Hemorrhagic Disease Due To Alpha-1-Antitrypsin Pittsburgh Mutation. Among its related pathways are Lung fibrosis and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include identical protein binding and protease binding. An important paralog of this gene is SERPINA2.

UniProtKB/Swiss-Prot Summary for SERPINA1 Gene

  • 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.
  • [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 Gene

Additional gene information for SERPINA1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SERPINA1 Gene

Genomics for SERPINA1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SERPINA1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SERPINA1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SERPINA1

Top Transcription factor binding sites by QIAGEN in the SERPINA1 gene promoter:
  • AP-1
  • TBP

Genomic Locations for SERPINA1 Gene

Latest Assembly
chr14:94,376,747-94,390,693
(GRCh38/hg38)
Size:
13,947 bases
Orientation:
Minus strand

Previous Assembly
chr14:94,843,084-94,856,972
(GRCh37/hg19 by Entrez Gene)
Size:
13,889 bases
Orientation:
Minus strand

chr14:94,843,084-94,857,030
(GRCh37/hg19 by Ensembl)
Size:
13,947 bases
Orientation:
Minus strand

Genomic View for SERPINA1 Gene

Genes around SERPINA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERPINA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERPINA1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SERPINA1 Gene

Proteins for SERPINA1 Gene

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  • Protein details for SERPINA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01009-A1AT_HUMAN
    Recommended name:
    Alpha-1-antitrypsin
    Protein Accession:
    P01009
    Secondary Accessions:
    • A6PX14
    • B2RDQ8
    • Q0PVP5
    • Q13672
    • Q53XB8
    • Q5U0M1
    • Q7M4R2
    • Q86U18
    • Q86U19
    • Q96BF9
    • Q96ES1
    • Q9P1P0
    • Q9UCE6
    • Q9UCM3

    Protein attributes for SERPINA1 Gene

    Size:
    418 amino acids
    Molecular mass:
    46737 Da
    Quaternary structure:
    • The variants S and Z interact with CANX AND PDIA3. Interacts with CELA2A (PubMed:31358993).
    SequenceCaution:
    • Sequence=CAD62334.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAD62585.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    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.
    • [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Three dimensional structures from OCA and Proteopedia for SERPINA1 Gene

    Alternative splice isoforms for SERPINA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SERPINA1 Gene

Protein Expression for SERPINA1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SERPINA1 Gene

  • 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 determinant.
  • Proteolytic processing may yield the truncated form that ranges from Asp-30 to Lys-418.
  • (Microbial infection) Proteolytically processed by Staphylococcus aureus seryl, cysteinyl, and metallo-proteases.
  • Glycosylation at Asn70, Asn107, and Asn271
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • A1AT_HUMAN (20)

Other Protein References for SERPINA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

Protein products for research

No data available for DME Specific Peptides for SERPINA1 Gene

Domains & Families for SERPINA1 Gene

Gene Families for SERPINA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for SERPINA1 Gene

InterPro:
Blocks:
  • Serpin
ProtoNet:

Suggested Antigen Peptide Sequences for SERPINA1 Gene

GenScript: Design optimal peptide antigens:
  • Serpin A1 (A1AT_HUMAN)
  • Alpha-1-antitrypsin null variant (C1KH65_HUMAN)
  • Alpha-1-antitrypsin MBrescia variant (Q2L9S7_HUMAN)
  • Alpha-1-antitrypsin M-variant (Q9UHK1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P01009

UniProtKB/Swiss-Prot:

A1AT_HUMAN :
  • 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.
  • Belongs to the serpin family.
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.
Family:
  • Belongs to the serpin family.
genes like me logo Genes that share domains with SERPINA1: view

Function for SERPINA1 Gene

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  6. Cell Lines for research

Molecular function for SERPINA1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for SERPINA1 Gene

Gene Ontology (GO) - Molecular Function for SERPINA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 15853774
GO:0004867 serine-type endopeptidase inhibitor activity IDA,NAS 12878203
GO:0005515 protein binding IPI 11057674
GO:0030414 peptidase inhibitor activity IEA --
GO:0042802 identical protein binding IPI 11057674
genes like me logo Genes that share ontologies with SERPINA1: view
genes like me logo Genes that share phenotypes with SERPINA1: view

Human Phenotype Ontology for SERPINA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SERPINA1 Gene

MGI Knock Outs for SERPINA1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINA1

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No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SERPINA1 Gene

Localization for SERPINA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINA1 Gene

Secreted. Endoplasmic reticulum. Note=The S and Z allele are not secreted effectively and accumulate intracellularly in the endoplasmic reticulum.
[Short peptide from AAT]: Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SERPINA1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 3
cytoskeleton 3
nucleus 3
cytosol 3
mitochondrion 2
endosome 2
lysosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SERPINA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA,IMP 16192646
GO:0005783 endoplasmic reticulum IEA,IDA 20477988
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with SERPINA1: view

Pathways & Interactions for SERPINA1 Gene

genes like me logo Genes that share pathways with SERPINA1: view

SIGNOR curated interactions for SERPINA1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for SERPINA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006953 acute-phase response IEA --
GO:0007596 blood coagulation IEA --
GO:0007599 hemostasis IEA --
genes like me logo Genes that share ontologies with SERPINA1: view

Drugs & Compounds for SERPINA1 Gene

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(45) Drugs for SERPINA1 Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 271
Pentetic acid Approved Pharma Carrier, substrate 165
Zinc Approved, Investigational Pharma Target 1687
zinc acetate Approved, Investigational Pharma Target 0
Zinc chloride Approved, Investigational Pharma Target, ligand 0

(18) Additional Compounds for SERPINA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) ApexBio Compounds for SERPINA1 Gene

Compound Action Cas Number
alpha-1 antitrypsin fragment Protease inhibitor
alpha-1 antitrypsin fragment 235-243 [Homo sapiens]/[Papio hamadryas]/[Cercopithecus aethiops]
genes like me logo Genes that share compounds with SERPINA1: view

Drug products for research

Transcripts for SERPINA1 Gene

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mRNA/cDNA for SERPINA1 Gene

11 REFSEQ mRNAs :
47 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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Alternative Splicing Database (ASD) splice patterns (SP) for SERPINA1 Gene

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: - - - -
SP6: - - - -
SP7: - - - - -
SP8: - - - -
SP9:
SP10: - - - - - -
SP11: - - - - - -
SP12: - - - - - - - -
SP13: - - - - -
SP14: -
SP15: -
SP16: - - - - - - -
SP17: - - - - - - -

ExUns: 9b ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b
SP1: -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for SERPINA1 Gene

GeneLoc Exon Structure for
SERPINA1

Expression for SERPINA1 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SERPINA1 Gene

mRNA expression in normal human tissues for SERPINA1 Gene
mRNA expression by GTEx for SERPINA1 GenemRNA expression by BioGPS for SERPINA1 Gene

mRNA differential expression in normal tissues according to GTEx for SERPINA1 Gene

This gene is overexpressed in Liver (x43.6) and Whole Blood (x5.8).

Protein differential expression in normal tissues from HIPED for SERPINA1 Gene

This gene is overexpressed in Vitreous humor (7.1) and Plasma (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SERPINA1 Gene



Protein tissue co-expression partners for SERPINA1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SERPINA1

SOURCE GeneReport for Unigene cluster for SERPINA1 Gene:

Hs.525557

mRNA Expression by UniProt/SwissProt for SERPINA1 Gene:

P01009-A1AT_HUMAN
Tissue specificity: Ubiquitous. Expressed in leukocytes and plasma.

Evidence on tissue expression from TISSUES for SERPINA1 Gene

  • Liver(5)
  • Blood(4.8)
  • Heart(4.8)
  • Intestine(4.8)
  • Lung(4.7)
  • Bone marrow(4.6)
  • Nervous system(4.6)
  • Urine(4.5)
  • Pancreas(4.2)
  • Kidney(3.7)
  • Spleen(3.7)
  • Gall bladder(3.3)
  • Stomach(3)
  • Muscle(3)
  • Lymph node(2.8)
  • Eye(2.8)
  • Adrenal gland(2.6)
  • Thyroid gland(2.4)
  • Skin(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPINA1 Gene

Germ Layers:
  • endoderm
Systems:
  • digestive
  • respiratory
Regions:
Thorax:
  • lung
Abdomen:
  • liver
genes like me logo Genes that share expression patterns with SERPINA1: view

Primer products for research

Orthologs for SERPINA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SERPINA1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SERPINA1 30 31
  • 99.28 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SERPINA1 30 31
  • 80.08 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SERPINA1 30 31
  • 78.23 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Serpina1 30
  • 75.51 (n)
Mouse
(Mus musculus)
 Mammalia Serpina1c 30 17 31
  • 74.03 (n)
 OneToMany
Serpina1a 17 31
  • 65 (a)
 OneToMany
Serpina1b 17 31
  • 65 (a)
 OneToMany
Serpina1d 17 31
  • 64 (a)
 OneToMany
Serpina1e 17 31
  • 63 (a)
 OneToMany
Serpina1f 31
  • 35 (a)
 OneToMany
Gm46 31
  • 31 (a)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia SERPINA1 31
  • 51 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia SERPINA1 31
  • 46 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SERPINA5 30
  • 56.57 (n)
SERPINA4 31
  • 43 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SERPINA1 31
  • 45 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia serpina1 30
  • 58.12 (n)
Str.4915 30
African clawed frog
(Xenopus laevis)
 Amphibia LOC397792 30
Zebrafish
(Danio rerio)
 Actinopterygii serpina1l 30 31
  • 53.75 (n)
 ManyToMany
serpina1 31
  • 37 (a)
 ManyToMany
zgc:174260 31
  • 36 (a)
 ManyToMany
zgc:174259 31
  • 35 (a)
 ManyToMany
serpina7 31
  • 35 (a)
 ManyToMany
si:ch211-186e20.7 31
  • 34 (a)
 ManyToMany
si:ch211-186e20.2 31
  • 34 (a)
 ManyToMany
CR559930.2 31
  • 33 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea srp-1 32
  • 28 (a)
Species where no ortholog for SERPINA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SERPINA1 Gene

ENSEMBL:
Gene Tree for SERPINA1 (if available)
TreeFam:
Gene Tree for SERPINA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SERPINA1: view image

Paralogs for SERPINA1 Gene

Paralogs for SERPINA1 Gene

(36) SIMAP similar genes for SERPINA1 Gene using alignment to 6 proteins:

  • A1AT_HUMAN
  • G3V2B9_HUMAN
  • G3V387_HUMAN
  • G3V4I7_HUMAN
  • G3V544_HUMAN
  • G3V5R8_HUMAN
genes like me logo Genes that share paralogs with SERPINA1: view

Variants for SERPINA1 Gene

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Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINA1 Gene

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%.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SERPINA1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
859309 Pathogenic: Alpha-1-antitrypsin deficiency 94,380,947(-) C/A
NM_000295.5(SERPINA1):c.841G>T (p.Glu281Ter) 		NONSENSE
884739 Uncertain Significance: Alpha-1-antitrypsin deficiency 94,378,007(-) T/A
NM_000295.5(SERPINA1):c.*442A>T 		THREE_PRIME_UTR
884740 Uncertain Significance: Alpha-1-antitrypsin deficiency 94,378,036(-) G/T
NM_000295.5(SERPINA1):c.*413C>A 		THREE_PRIME_UTR
884741 Uncertain Significance: Alpha-1-antitrypsin deficiency 94,378,039(-) T/G
NM_000295.5(SERPINA1):c.*410A>C 		THREE_PRIME_UTR
884742 Uncertain Significance: Alpha-1-antitrypsin deficiency 94,378,078(-) C/A
NM_000295.5(SERPINA1):c.*371G>T 		THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SERPINA1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SERPINA1 Gene

Variant ID Type Subtype PubMed ID
esv3447303 CNV insertion 20981092
nsv1120301 CNV tandem duplication 24896259
nsv1406 CNV insertion 18451855
nsv470662 CNV gain 18288195
nsv509545 CNV insertion 20534489
nsv512370 CNV loss 21212237
nsv513750 CNV insertion 21212237
nsv832863 CNV gain 17160897
nsv832864 CNV loss 17160897

Variation tolerance for SERPINA1 Gene

Residual Variation Intolerance Score: 89% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.50; 55.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SERPINA1 Gene

Human Gene Mutation Database (HGMD)
SERPINA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERPINA1

SNP Genotyping and Copy Number Assays for research

Disorders for SERPINA1 Gene

MalaCards: The human disease database

(109) MalaCards diseases for SERPINA1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

A1AT_HUMAN
  • 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. {ECO:0000269 PubMed:1905728, ECO:0000269 PubMed:2227940, ECO:0000269 PubMed:2390072}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for SERPINA1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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No data available for Genatlas for SERPINA1 Gene

Publications for SERPINA1 Gene

  1. Prevalence of genetic polymorphisms in the promoter region of the alpha-1 antitrypsin (SERPINA1) gene in chronic liver disease: a case control study. (PMID: 20170533) Kok KF … Drenth JP (BMC gastroenterology 2010) 3 23 41
  2. Polymorphisms in the SERPINA1 (Alpha-1-Antitrypsin) gene are associated with severe chronic rhinosinusitis unresponsive to medical therapy. (PMID: 20109307) Kilty SJ … Desrosiers MY (American journal of rhinology & allergy 2010) 3 23 41
  3. Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome. (PMID: 20425789) Morris CA … Gregg RG (American journal of medical genetics. Part C, Seminars in medical genetics 2010) 3 23 41
  4. Alpha-1-antitrypsin phenotypes in adult liver disease patients. (PMID: 19961268) Topic A … Kovacevic N (Upsala journal of medical sciences 2009) 3 23 41
  5. Real time PCR detection of the PI*Z and PI*S mutations associated with alpha-1 antitrypsin deficiency. (PMID: 19956452) Bartels CL … Tsongalis GJ (American journal of translational research 2009) 3 23 41

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