AutismKB 2.0

Annotation Details for AIF1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:AIF1 ( AIF-1,IBA1,IRT-1,IRT1 )
Gene Full Name: allograft inflammatory factor 1
Band: 6p21.33
Quick LinksEntrez ID:199; OMIM: 601833; Uniprot ID:AIF1_HUMAN; ENSEMBL ID: ENSG00000204472; HGNC ID: 352
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001891ISS-phagocytic cup-
GO:0005634IDA-nucleus22116621
GO:0005634ISS-nucleus-
GO:0005737ISS-cytoplasm-
GO:0005829IDA-cytosol22116621
GO:0005884IDAcolocalizes_withactin filament18699778
GO:0030027ISS-lamellipodium-
GO:0032587IDAcolocalizes_withruffle membrane18699778
GO:0043204IEA-perikaryon-
GO:0048471IDA-perinuclear region of cytoplasm9614071
GO ID Evidence Qualifier GO_term References
GO:0003674ND-molecular_function-
GO:0005509ISS-calcium ion binding17011575
GO:0051015IDA-actin filament binding16049345
GO ID Evidence Qualifier GO_term References
GO:0001774NAS-microglial cell activation17011575
GO:0001934IEA-positive regulation of protein phosphorylation-
GO:0006911ISS-phagocytosis, engulfment-
GO:0006954ISS-inflammatory response-
GO:0006954NAS-inflammatory response7769138
GO:0010629IEA-negative regulation of gene expression-
GO:0014739IEA-positive regulation of muscle hyperplasia-
GO:0016601ISS-Rac protein signal transduction-
GO:0030041IDA-actin filament polymerization16049345
GO:0031668IEA-cellular response to extracellular stimulus-
GO:0032870IEA-cellular response to hormone stimulus-
GO:0042102IDA-positive regulation of T cell proliferation16049345
GO:0043066IEA-negative regulation of apoptotic process-
GO:0045429IEA-positive regulation of nitric oxide biosynthetic process-
GO:0048661IDA-positive regulation of smooth muscle cell proliferation15117732
GO:0048662IDA-negative regulation of smooth muscle cell proliferation9614071
GO:0048678IEA-response to axon injury-
GO:0051017IDA-actin filament bundle assembly18699778
GO:0051384IEA-response to glucocorticoid-
GO:0051602IEA-response to electrical stimulus-
GO:0071315IEA-cellular response to morphine-
GO:0071346IEP-cellular response to interferon-gamma9614071
GO:0071346ISS-cellular response to interferon-gamma-
GO:0071447IEA-cellular response to hydroperoxide-
GO:0071672IDA-negative regulation of smooth muscle cell chemotaxis22116621
GO:0071673IDA-positive regulation of smooth muscle cell chemotaxis22116621
GO:0090026IDA-positive regulation of monocyte chemotaxis15117732
GO:0097178ISS-ruffle assembly-
GO:0097178NAS-ruffle assembly17011575
GO:1900087IDA-positive regulation of G1/S transition of mitotic cell cycle11557666
GO:2000406IDA-positive regulation of T cell migration16049345
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
AIF1rs2857700, rs3132451 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:1343098
  • 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