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Aliases for SERPINA3 Gene

Aliases for SERPINA3 Gene

  • Serpin Family A Member 3 2 3 5
  • Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 3 2 3
  • Cell Growth-Inhibiting Gene 24/25 Protein 3 4
  • Alpha-1-Antichymotrypsin 2 3
  • 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
  • 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 Endometrial Adenosquamous Carcinoma. Among its related pathways are Immune System and Folate Metabolism. GO annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is ENSG00000273259.

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

Enhancers for SERPINA3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14F094597 1.8 FANTOM5 Ensembl ENCODE 36.2 -12.2 -12174 6.1 MLX ZFP64 ARID4B SIN3A DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF207 SERPINA10 SERPINA3 SERPINA1 SERPINA5 SERPINA6 SERPINA11 SCARNA13 SNHG10 SERPINA4 SERPINA9
GH14F094281 0.3 FANTOM5 29.1 -330.4 -330351 0.3 ZFHX2 GLIS1 SERPINA6 SERPINA10 SERPINA3 SERPINA11 SERPINA1 SERPINA4 ENSG00000256357 PPP4R4 SERPINA5 GC14M094218
GH14F094571 0.9 Ensembl ENCODE 19.1 -40.2 -40198 2.2 ELF3 ATF1 MLX THRB ZNF48 ZSCAN9 RAD21 RARA GATA4 CREM SERPINA3 SERPINA9 ENSG00000256357 SERPINA5 ENSG00000273259
GH14F094593 1 FANTOM5 ENCODE 16.4 -18.3 -18310 1.1 ATF1 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 SLC30A9 PAF1 SP5 SERPINA5 SERPINA1 SERPINA6 SERPINA11 SERPINA10 SERPINA3 SERPINA4 ENSG00000273259
GH14F094575 0.4 ENCODE 11.3 -36.3 -36263 1.2 ZFHX2 HLF RAD21 MAFK EGR2 SERPINA3 SERPINA9 ENSG00000256357 SERPINA5 ENSG00000273259
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers 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

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

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
GO:0004867 serine-type endopeptidase inhibitor activity TAS 2404007
GO:0005515 protein binding IPI 12709365
GO:0030414 peptidase inhibitor activity IEA --
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

Inhibitory RNA Products

Clone 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:0005576 extracellular region NAS,TAS --
GO:0005615 extracellular space IEA,IDA 16502470
GO:0005622 intracellular NAS 9880565
GO:0005634 nucleus TAS 14668352
GO:0031093 platelet alpha granule lumen TAS --
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

Interacting Proteins for SERPINA3 Gene

Gene Ontology (GO) - Biological Process for SERPINA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0006953 acute-phase response IEA --
GO:0006954 inflammatory response NAS 12475184
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citric Acid Vet_approved Nutra Agonist, Activator, Target 1106
antineoplastic agents Pharma 0

(26) 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:

Inhibitory RNA Products

Clone 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, MaxQB, and MOPED for SERPINA3 Gene



Protein tissue co-expression partners for SERPINA3 Gene

NURSA nuclear receptor signaling pathways regulating expression of SERPINA3 Gene:

SERPINA3

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

Primer 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 34 35
  • 98.5 (n)
cow
(Bos Taurus)
Mammalia SERPINA3-1 34 35
  • 74.81 (n)
-- 35
  • 65 (a)
OneToMany
-- 35
  • 63 (a)
OneToMany
-- 35
  • 63 (a)
OneToMany
-- 35
  • 63 (a)
OneToMany
SERPINA3-6 35
  • 63 (a)
OneToMany
-- 35
  • 62 (a)
OneToMany
dog
(Canis familiaris)
Mammalia SERPINA3 34 35
  • 73.65 (n)
mouse
(Mus musculus)
Mammalia Serpina3n 34 16 35
  • 70.39 (n)
Serpina3m 35
  • 61 (a)
OneToMany
Serpina3i 35
  • 60 (a)
OneToMany
Serpina3c 35
  • 59 (a)
OneToMany
Serpina3k 35
  • 59 (a)
OneToMany
Serpina3f 35
  • 55 (a)
OneToMany
Serpina3g 35
  • 55 (a)
OneToMany
Serpina3j 35
  • 53 (a)
OneToMany
Serpina3b 35
  • 52 (a)
OneToMany
Serpina3a 35
  • 51 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Serpina3n 34
  • 70.32 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 54 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia SERPINA3 35
  • 48 (a)
OneToOne
Species where no ortholog for SERPINA3 was found in the sources mined by GeneCards:
  • 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

Variants for SERPINA3 Gene

Sequence variations from dbSNP and Humsavar for SERPINA3 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs116929575 Pathogenic 94,623,782(+) TCTTC(A/G)TGAGC reference, missense
rs17473 Pathogenic 94,619,305(+) CTATA(C/G/T)CTTAC reference, missense
rs1800463 Pathogenic 94,614,674(+) CCCAC(C/T)GAGCA reference, missense
rs4934 Benign 94,614,466(+) TCCTG(A/G)CTCTG reference, missense
rs10133663 -- 94,612,725(+) GGATT(C/T)GAGTC intron-variant

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

Variant ID Type Subtype PubMed ID
esv3635384 CNV gain 21293372
nsv470662 CNV gain 18288195
nsv565623 CNV gain 21841781
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

Human Gene Mutation Database (HGMD)
SERPINA3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERPINA3

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

Disorders for SERPINA3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
alpha-1-antichymotrypsin deficiency
  • alpha-1-antichymotrypsin
endometrial adenosquamous carcinoma
  • adenosquamous carcinoma of endometrium
embryonal sarcoma
  • undifferentiated sarcoma
malignant histiocytosis
  • histiocytic medullary reticulosis [obs]
malignant fibroxanthoma
  • fibrous histiocytoma, malignant
- 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 signal peptide a/t polymorphism and primary intracerebral hemorrhage. (PMID: 18408372) Dardiotis E. … Karantanas A. (Eur. Neurol. 2008) 3 22 46 64
  2. 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 22 46 64
  3. Alpha-1-antichymotrypsin (ACT or SERPINA3) polymorphism may affect age-at-onset and disease duration of Alzheimer's disease. (PMID: 16137793) Kamboh M.I. … DeKosky S.T. (Neurobiol. Aging 2006) 3 22 46 64
  4. A new promoter polymorphism in the alpha-1-antichymotrypsin gene is a disease modifier of Alzheimer's disease. (PMID: 15653173) Licastro F. … Canal N. (Neurobiol. Aging 2005) 3 22 46 64
  5. The SANT2 domain of the murine tumor cell DnaJ-like protein 1 human homologue interacts with alpha1-antichymotrypsin and kinetically interferes with its serpin inhibitory activity. (PMID: 14668352) Kroczynska B. … Blond S.Y. (J. Biol. Chem. 2004) 3 4 22 64

Products for SERPINA3 Gene

Sources for SERPINA3 Gene

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