SERPINA3 (serpin family A member 3)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 12
Gene name Serpin family A member 3
Gene symbol SERPINA3
Synonyms (NCBI Gene)
AACTACTGIG24GIG25
Chromosome 14
Chromosome location 14q32.13
Summary The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. Polymorphisms in this protein appear to
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs17473 C>G,T Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs1800463 T>A,C Pathogenic Coding sequence variant, missense variant
rs116929575 A>G Pathogenic, uncertain-significance Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
159
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT016786 hsa-miR-335-5p Microarray 18185580
MIRT437804 hsa-miR-137 Luciferase reporter assay 23640964
MIRT644600 hsa-miR-499b-5p HITS-CLIP 23824327
MIRT618451 hsa-miR-138-2-3p HITS-CLIP 23824327
MIRT618449 hsa-miR-5590-5p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
NFKB1 Repression 11027208
RELA Repression 11027208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding TAS 14668352
GO:0004867 Function Serine-type endopeptidase inhibitor activity IBA
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0004867 Function Serine-type endopeptidase inhibitor activity TAS 2404007
GO:0005515 Function Protein binding IPI 12709365, 14668352, 14687906, 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
107280 16 ENSG00000196136
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01011
Protein name Alpha-1-antichymotrypsin (ACT) (Cell growth-inhibiting gene 24/25 protein) (Serpin A3) [Cleaved into: Alpha-1-antichymotrypsin His-Pro-less]
Protein 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.
PDB 1AS4 , 1QMN , 2ACH , 3CAA , 3DLW , 4CAA , 6HGE , 9C2T , 9D7K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00079 Serpin 51 → 420 Serpin (serine protease inhibitor) Domain
Tissue specificity 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. {ECO:00
Sequence
Sequence length 423
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Platelet degranulation
Neutrophil degranulation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ANTICHYMOTRYPSIN BOCHUM 1 Pathogenic rs1800463 RCV000019665
Show/Hide Unknown Diseases (9)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ANTICHYMOTRYPSIN BONN 1 Likely benign rs17473 RCV000019666
Antichymotrypsin deficiency-alpha-1 Likely benign rs17473 RCV005394167
ANTICHYMOTRYPSIN ISEHARA 1 Uncertain significance rs116929575 RCV000019663
ANTICHYMOTRYPSIN ISEHARA 2 Likely benign rs750702304 RCV000019664
Show/Hide Text Mining Associations (81)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 11027208
Agnosia Associate 37414914
alpha 1 Antitrypsin Deficiency Associate 3260956, 7912884
Alzheimer Disease Associate 10373494, 16137793, 18248459, 24768341, 33862227, 34668150, 35212939, 40471493, 8617509, 8916107, 9461605, 9880565
Alzheimer Disease Stimulate 11027208
Apraxias Associate 24015209
Ascites Associate 27500424
Asthma Associate 23517041, 37146352
Asthma Stimulate 34737220
Breast Neoplasms Associate 15546506, 33279852, 37414914, 38036545