AutismKB 2.0

Annotation Details for APPL1


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Basic Information Top
Gene Symbol:APPL1 ( APPL,DIP13alpha )
Gene Full Name: adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1
Band: 3p14.3
Quick LinksEntrez ID:26060; OMIM: 604299; Uniprot ID:DP13A_HUMAN; ENSEMBL ID: ENSG00000157500; HGNC ID: 24035
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus15016378
GO:0005737IC-cytoplasm10490823
GO:0005769ISS-early endosome-
GO:0005829IDA-cytosol17848569
GO:0010008IDA-endosome membrane15016378
GO:0010008TAS-endosome membrane-
GO:0012506IDA-vesicle membrane17848569
GO:0016581IDAcolocalizes_withNuRD complex15016378
GO:0031901IEA-early endosome membrane-
GO:0070062IDA-extracellular exosome18570454
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding10490823
GO:0042802IPI-identical protein binding17581628
GO:0043422IPI-protein kinase B binding17848569
GO ID Evidence Qualifier GO_term References
GO:0007049IEA-cell cycle-
GO:0007165TAS-signal transduction10490823
GO:0008283IDA-cell proliferation15016378
GO:0008286IMP-insulin receptor signaling pathway26073777
GO:0008286TAS-insulin receptor signaling pathway17848569
GO:0046324IMP-regulation of glucose import17848569
GO:0090003IMP-regulation of establishment of protein localization to plasma membrane17848569
GO:0097192TAS-extrinsic apoptotic signaling pathway in absence of ligand-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
APPL1AKT211752210490823 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
APPL1AKT210671110490823 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
APPL1DCC11752212011067 Affinity Capture-Western; Two-hybrid
APPL1DCC10799812011067 Affinity Capture-Western; Two-hybrid
APPL1HDAC110931519686092 Affinity Capture-Western; Reconstituted Complex
APPL1HDAC111752219686092 Affinity Capture-Western; Reconstituted Complex
APPL1HDAC211752219686092 Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
APPL1HDAC210931619686092 Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
APPL1RBBP411186319686092 Affinity Capture-Western
APPL1RBBP411752219686092 Affinity Capture-Western
APPL1RBBP711752219686092 Affinity Capture-Western
APPL1RBBP711186619686092 Affinity Capture-Western
APPL1TRAF211303816189514 Two-hybrid
APPL1TRAF211752216189514 Two-hybrid
APPL1MTA211752219686092 Affinity Capture-Western
APPL1MTA211465219686092 Affinity Capture-Western
APPL1RUVBL211752219433865 Affinity Capture-Western; Reconstituted Complex
APPL1RUVBL211606719433865 Affinity Capture-Western; Reconstituted Complex
APPL2APPL111752216189514 Two-hybrid
APPL2APPL112049516189514 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1920243
  • Data Attributes: HomoloGene calculated
No data
No data

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  (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