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Aliases for SERPINA3 Gene

Aliases for SERPINA3 Gene

  • Serpin Family A Member 3 2 3
  • Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 3 2 3 5
  • Cell Growth-Inhibiting Gene 24/25 Protein 3 4
  • Serpin A3 3 4
  • AACT 3 4
  • ACT 3 4
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 3 2
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade A, Member 3 3
  • Growth-Inhibiting Protein 24 3
  • Growth-Inhibiting Protein 25 3
  • Alpha-1-Antichymotrypsin 2
  • GIG24 3
  • GIG25 3

External Ids for SERPINA3 Gene

Previous HGNC Symbols for SERPINA3 Gene

  • AACT

Previous GeneCards Identifiers for SERPINA3 Gene

  • GC14P092585
  • GC14P088870
  • GC14P093019
  • GC14P093020
  • GC14P093070
  • GC14P094148
  • GC14P095078
  • GC14P075259

Summaries for SERPINA3 Gene

Entrez Gene Summary for SERPINA3 Gene

  • The protein encoded by this gene is a plasma protease inhibitor and member of the serine protease inhibitor class. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein's sequence have been implicated in Alzheimer's disease, and deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease. [provided by RefSeq, Jul 2008]

GeneCards Summary for SERPINA3 Gene

SERPINA3 (Serpin Family A Member 3) is a Protein Coding gene. Diseases associated with SERPINA3 include alpha-1-antichymotrypsin deficiency and malignant fibroxanthoma. Among its related pathways are Platelet activation, signaling and aggregation and Selenium Pathway. GO annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPING1.

UniProtKB/Swiss-Prot for SERPINA3 Gene

  • Although its physiological function is unclear, it can inhibit neutrophil cathepsin G and mast cell chymase, both of which can convert angiotensin-1 to the active angiotensin-2.

Gene Wiki entry for SERPINA3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERPINA3 Gene

Genomics for SERPINA3 Gene

Regulatory Elements for SERPINA3 Gene

Promoters for SERPINA3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SERPINA3 on UCSC Golden Path with GeneCards custom track

Genomic Location for SERPINA3 Gene

Chromosome:
14
Start:
94,612,377 bp from pter
End:
94,624,055 bp from pter
Size:
11,679 bases
Orientation:
Plus strand

Genomic View for SERPINA3 Gene

Genes around SERPINA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERPINA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERPINA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERPINA3 Gene

Proteins for SERPINA3 Gene

  • Protein details for SERPINA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01011-AACT_HUMAN
    Recommended name:
    Alpha-1-antichymotrypsin
    Protein Accession:
    P01011
    Secondary Accessions:
    • B3KVQ7
    • Q13703
    • Q2TU87
    • Q2TU88
    • Q59GP9
    • Q6LBY8
    • Q6LDT7
    • Q6NSC9
    • Q8N177
    • Q96DW8
    • Q9UC47
    • Q9UNU9

    Protein attributes for SERPINA3 Gene

    Size:
    423 amino acids
    Molecular mass:
    47651 Da
    Quaternary structure:
    • Interacts with DNAJC1.
    Miscellaneous:
    • Alpha-1-antichymotrypsin can bind DNA.
    SequenceCaution:
    • Sequence=AAA51543.1; Type=Frameshift; Positions=101, 106, 111, 117, 123, 129, 421; Evidence={ECO:0000305}; Sequence=AAT08029.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAT08029.1; Type=Frameshift; Positions=4; Evidence={ECO:0000305}; Sequence=BAD92297.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAA48671.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SERPINA3 Gene

    Alternative splice isoforms for SERPINA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SERPINA3 Gene

Proteomics data for SERPINA3 Gene at MOPED

Post-translational modifications for SERPINA3 Gene

  • N- and O-glycosylated.
  • Glycosylation at Asn 33, Asn 93, Asn 106, Asn 127, Asn 186, Asn 271, and Thr 347
  • Modification sites at PhosphoSitePlus

Other Protein References for SERPINA3 Gene

Antibody Products

  • R&D Systems Antibodies for SERPINA3 (Serpin A3/alpha 1-Antichymotrypsin)

No data available for DME Specific Peptides for SERPINA3 Gene

Domains & Families for SERPINA3 Gene

Gene Families for SERPINA3 Gene

Protein Domains for SERPINA3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SERPINA3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P01011

UniProtKB/Swiss-Prot:

AACT_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 SERPINA3: view

Function for SERPINA3 Gene

Molecular function for SERPINA3 Gene

UniProtKB/Swiss-Prot Function:
Although its physiological function is unclear, it can inhibit neutrophil cathepsin G and mast cell chymase, both of which can convert angiotensin-1 to the active angiotensin-2.

Gene Ontology (GO) - Molecular Function for SERPINA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 14668352
genes like me logo Genes that share ontologies with SERPINA3: view

Phenotypes for SERPINA3 Gene

GenomeRNAi human phenotypes for SERPINA3:
genes like me logo Genes that share phenotypes with SERPINA3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SERPINA3 Gene

Localization for SERPINA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINA3 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SERPINA3 Gene COMPARTMENTS Subcellular localization image for SERPINA3 gene
Compartment Confidence
extracellular 5
nucleus 5
cytoskeleton 3
endoplasmic reticulum 2
lysosome 2
plasma membrane 2
vacuole 2
cytosol 1

Gene Ontology (GO) - Cellular Components for SERPINA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 19056867
GO:0072562 blood microparticle IDA 22516433
genes like me logo Genes that share ontologies with SERPINA3: view

Pathways & Interactions for SERPINA3 Gene

genes like me logo Genes that share pathways with SERPINA3: view

Pathways by source for SERPINA3 Gene

Interacting Proteins for SERPINA3 Gene

Gene Ontology (GO) - Biological Process for SERPINA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006953 acute-phase response IEA --
GO:0010951 negative regulation of endopeptidase activity TAS 2404007
genes like me logo Genes that share ontologies with SERPINA3: view

No data available for SIGNOR curated interactions for SERPINA3 Gene

Drugs & Compounds for SERPINA3 Gene

(29) Drugs for SERPINA3 Gene - From: Novoseek, PharmGKB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citric Acid Nutra Agonist, Activator, Target 1001
antineoplastic agents Pharma 0

(29) Additional Compounds for SERPINA3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SERPINA3: view

Transcripts for SERPINA3 Gene

Unigene Clusters for SERPINA3 Gene

Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SERPINA3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d ^ 10
SP1: - - -
SP2: - -
SP3: - - - - - - -
SP4: - - - - - - - - - -
SP5: - - - -
SP6: - - - - - -
SP7: - - - -
SP8: - -
SP9: - - -
SP10: - -
SP11: -
SP12: - - - - - - - - - - - - - - - -
SP13:

Relevant External Links for SERPINA3 Gene

GeneLoc Exon Structure for
SERPINA3
ECgene alternative splicing isoforms for
SERPINA3

Expression for SERPINA3 Gene

mRNA expression in normal human tissues for SERPINA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SERPINA3 Gene

This gene is overexpressed in Liver (x24.0) and Pancreas (x11.8).

Protein differential expression in normal tissues from HIPED for SERPINA3 Gene

This gene is overexpressed in Serum (11.3), Plasma (10.9), and Synovial fluid (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for SERPINA3 Gene



SOURCE GeneReport for Unigene cluster for SERPINA3 Gene Hs.534293

mRNA Expression by UniProt/SwissProt for SERPINA3 Gene

P01011-AACT_HUMAN
Tissue specificity: Plasma. Synthesized in the liver. Like the related alpha-1-antitrypsin, its concentration increases in the acute phase of inflammation or infection. Found in the amyloid plaques from the hippocampus of Alzheimer disease brains.
genes like me logo Genes that share expression patterns with SERPINA3: view

Protein tissue co-expression partners for SERPINA3 Gene

Primer Products

In Situ Assay Products

Orthologs for SERPINA3 Gene

This gene was present in the common ancestor of mammals.

Orthologs for SERPINA3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SERPINA3 35
  • 98.5 (n)
  • 97.4 (a)
SERPINA3 36
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SERPINA3-1 35
  • 74.81 (n)
  • 66.07 (a)
-- 36
  • 63 (a)
OneToMany
-- 36
  • 63 (a)
OneToMany
-- 36
  • 65 (a)
OneToMany
-- 36
  • 62 (a)
OneToMany
-- 36
  • 63 (a)
OneToMany
SERPINA3-1 36
  • 64 (a)
OneToMany
SERPINA3-6 36
  • 63 (a)
OneToMany
dog
(Canis familiaris)
Mammalia SERPINA3 36
  • 61 (a)
OneToOne
SERPINA3 35
  • 73.65 (n)
  • 64.29 (a)
mouse
(Mus musculus)
Mammalia Serpina3n 35
  • 70.39 (n)
  • 62.28 (a)
Serpina3a 36
  • 51 (a)
OneToMany
Serpina3b 36
  • 52 (a)
OneToMany
Serpina3c 36
  • 59 (a)
OneToMany
Serpina3f 36
  • 55 (a)
OneToMany
Serpina3g 36
  • 55 (a)
OneToMany
Serpina3i 36
  • 60 (a)
OneToMany
Serpina3j 36
  • 53 (a)
OneToMany
Serpina3k 36
  • 59 (a)
OneToMany
Serpina3m 36
  • 61 (a)
OneToMany
Serpina3n 36
  • 62 (a)
OneToMany
Serpina3n 16
oppossum
(Monodelphis domestica)
Mammalia SERPINA3 36
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 54 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Serpina3n 35
  • 70.32 (n)
  • 62.34 (a)
Species with no ortholog for SERPINA3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 squirt (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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SERPINA3 Gene

ENSEMBL:
Gene Tree for SERPINA3 (if available)
TreeFam:
Gene Tree for SERPINA3 (if available)

Paralogs for SERPINA3 Gene

Pseudogenes.org Pseudogenes for SERPINA3 Gene

genes like me logo Genes that share paralogs with SERPINA3: view

Variants for SERPINA3 Gene

Sequence variations from dbSNP and Humsavar for SERPINA3 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs4934 - 94,614,466(+) TCCTG(A/G)CTCTG reference, missense
rs1800463 - 94,614,674(+) CCCAC(C/T)GAGCA reference, missense
VAR_006975 -
rs17473 - 94,619,305(+) CTATA(C/G/T)CTTAC reference, missense
VAR_006977 -

Structural Variations from Database of Genomic Variants (DGV) for SERPINA3 Gene

Variant ID Type Subtype PubMed ID
nsv470662 CNV Gain 18288195
nsv832865 CNV Gain 17160897

Variation tolerance for SERPINA3 Gene

Residual Variation Intolerance Score: 78.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.07; 80.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SERPINA3 Gene

HapMap Linkage Disequilibrium report
SERPINA3
Human Gene Mutation Database (HGMD)
SERPINA3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINA3 Gene

Disorders for SERPINA3 Gene

MalaCards: The human disease database

(45) MalaCards diseases for SERPINA3 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alpha-1-antichymotrypsin deficiency
  • antichymotrypsin deficiency-alpha-1
malignant fibroxanthoma
  • fibrous histiocytoma, malignant
extraskeletal chondroma
  • soft tissue chondroma
alpha 1-antitrypsin deficiency
  • aat deficiency
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SERPINA3

Genetic Association Database (GAD)
SERPINA3
Human Genome Epidemiology (HuGE) Navigator
SERPINA3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SERPINA3
genes like me logo Genes that share disorders with SERPINA3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SERPINA3 Gene

Publications for SERPINA3 Gene

  1. Alpha-1-antichymotrypsin gene A1252G variant (ACT Isehara-1) is associated with a lacunar type of ischemic cerebrovascular disease. (PMID: 11289720) Tachikawa H. … Shinohara Y. (J. Hum. Genet. 2001) 3 4 48 67
  2. Update of the human and mouse SERPIN gene superfamily. (PMID: 24172014) Heit C. … Vasiliou V. (Hum. Genomics 2013) 2 3
  3. Alpha-1 antichymotrypsin gene signal peptide a/t polymorphism and primary intracerebral hemorrhage. (PMID: 18408372) Dardiotis E. … Karantanas A. (Eur. Neurol. 2008) 3 23
  4. Elevated plasma levels of alpha-1-anti-chymotrypsin in age-related cognitive decline and Alzheimer's disease: a potential therapeutic target. (PMID: 18991685) Porcellini E. … Licastro F. (Curr. Pharm. Des. 2008) 3 23
  5. The alanine/threonine polymorphism of the alpha-1-antichymotrypsin (SERPINA3) gene and ruptured intracranial aneurysms in the Japanese population. (PMID: 16968986) Krischek B. … Inoue I. (Cerebrovasc. Dis. 2007) 3 23

Products for SERPINA3 Gene

Sources for SERPINA3 Gene

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