AutismKB 2.0

Annotation Details for SERPINA3


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Basic Information Top
Gene Symbol:SERPINA3 ( AACT,ACT,GIG25,MGC88254 )
Gene Full Name: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
Band: 14q32.13
Quick LinksEntrez ID:12; OMIM: 107280; Uniprot ID:AACT_HUMAN; ENSEMBL ID: ENSG00000196136; HGNC ID: 16
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576NAS-extracellular region8647626
GO:0005576TAS-extracellular region-
GO:0005615IDA-extracellular space16502470
GO:0005622NAS-intracellular9880565
GO:0005634TAS-nucleus14668352
GO:0031093TAS-platelet alpha granule lumen-
GO:0034774TAS-secretory granule lumen-
GO:0035578TAS-azurophil granule lumen-
GO:0070062IDA-extracellular exosome19056867
GO:0072562IDA-blood microparticle22516433
GO ID Evidence Qualifier GO_term References
GO:0003677TAS-DNA binding14668352
GO:0004867TAS-serine-type endopeptidase inhibitor activity2404007
GO:0005515IPI-protein binding12709365
GO ID Evidence Qualifier GO_term References
GO:0002576TAS-platelet degranulation-
GO:0006953IEA-acute-phase response-
GO:0006954NAS-inflammatory response12475184
GO:0010951IEA-negative regulation of endopeptidase activity-
GO:0019216NAS-regulation of lipid metabolic process11835318
GO:0030277NAS-maintenance of gastrointestinal epithelium8647626
GO:0043312TAS-neutrophil degranulation-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
ELANESERPINA31065308718849 Biochemical Activity
ELANESERPINA31083068718849 Biochemical Activity
KLK2SERPINA31100179428387 Reconstituted Complex
KLK2SERPINA31065309428387 Reconstituted Complex
DNAJC1SERPINA310653014668352 Reconstituted Complex; Two-hybrid
DNAJC1SERPINA312210514668352 Reconstituted Complex; Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
SERPINA3ACT1_TG, Leu39Leu, Met389Val, SERPINA3_A10, SERPINA3_promoter, Ser250Ser, rs10145747, rs11538071, rs11625058, rs17826465, rs17826488, rs1802958, rs1884082, rs4375593, rs4508366, rs4934, rs8004988 Gene overview in AlzGene
Gene Symbol Poly Names Gene overview in PDGene
SERPINA3rs4934 Gene overview in PDGene
Gene Symbol Poly Names Gene overview in SZGene
SERPINA3rs4934 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:105045
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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