Gene Gene information from NCBI Gene database.
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
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
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.
2
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.
25
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.
MIM HGNC e!Ensembl
107280 16 ENSG00000196136
Protein Protein information from UniProt database.
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.
  Reactome
    Platelet degranulation
Neutrophil degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ANTICHYMOTRYPSIN BOCHUM 1 Pathogenic rs1800463 RCV000019665
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS 1 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANTICHYMOTRYPSIN BONN 1 Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Antichymotrypsin deficiency-alpha-1 Likely benign ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
ANTICHYMOTRYPSIN ISEHARA 1 Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adamantinous Craniopharyngioma Adamantinous Craniopharyngioma BEFREE 28414889
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 29125557
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 22170383
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 16570232, 7479776
★☆☆☆☆
Found in Text Mining only
alpha 1-Antitrypsin Deficiency Alpha 1-Antitrypsin Deficiency BEFREE 2327559, 3260956, 3877579
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 10373494, 16137793, 18248459, 24768341, 33862227, 34668150, 35212939, 40471493, 8617509, 8916107, 9461605, 9880565 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 11027208 Stimulate
★☆☆☆☆
Found in Text Mining only
ALZHEIMER DISEASE 2 Alzheimer disease BEFREE 8223557
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 11290389, 8730823, 9225693, 9482249
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 11106573, 8875763, 9350687
★☆☆☆☆
Found in Text Mining only