Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
12
Gene name Gene Name - the full gene name approved by the HGNC.
Serpin family A member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SERPINA3
Synonyms (NCBI Gene) Gene synonyms aliases
AACT, ACT, GIG24, GIG25
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.13
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 factor Regulation Reference
NFKB1 Repression 11027208
RELA Repression 11027208
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
107280 16 ENSG00000196136
Protein
UniProt ID 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.
  Reactome
    Platelet degranulation
Neutrophil degranulation
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