AutismKB 2.0

Annotation Details for APH1A


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Basic Information Top
Gene Symbol:APH1A ( 6530402N02Rik,APH-1,APH-1A,CGI-78 )
Gene Full Name: anterior pharynx defective 1 homolog A (C. elegans)
Band: 1q21.2
Quick LinksEntrez ID:51107; OMIM: 607629; Uniprot ID:APH1A_HUMAN; ENSEMBL ID: ENSG00000117362; HGNC ID: 29509
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005783IDA-endoplasmic reticulum15274632
GO:0005789IEA-endoplasmic reticulum membrane-
GO:0005794IDA-Golgi apparatus15274632
GO:0005886TAS-plasma membrane-
GO:0005887IDA-integral component of plasma membrane15274632
GO:0016020IDA-membrane19946888
GO:0016021IDA-integral component of membrane25043039
GO:0032580IEA-Golgi cisterna membrane-
GO:0070765IBA-gamma-secretase complex-
GO:0070765IDA-gamma-secretase complex25043039
GO ID Evidence Qualifier GO_term References
GO:0004175IBA-endopeptidase activity-
GO:0005515IPI-protein binding12297508
GO ID Evidence Qualifier GO_term References
GO:0001656IEA-metanephros development-
GO:0006509IDA-membrane protein ectodomain proteolysis15274632
GO:0007219IBA-Notch signaling pathway-
GO:0007219TAS-Notch signaling pathway-
GO:0007220IMP-Notch receptor processing12297508
GO:0007220TAS-Notch receptor processing15274632
GO:0016485IDA-protein processing15274632
GO:0031293IMP-membrane protein intracellular domain proteolysis12297508
GO:0031293TAS-membrane protein intracellular domain proteolysis-
GO:0034205IMP-amyloid-beta formation25043039
GO:0042982IDA-amyloid precursor protein metabolic process25043039
GO:0042987IMP-amyloid precursor protein catabolic process12297508
GO:0042987TAS-amyloid precursor protein catabolic process15274632
GO:0043065TAS-positive regulation of apoptotic process-
GO:0043085IDA-positive regulation of catalytic activity15274632
GO:0048013TAS-ephrin receptor signaling pathway-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
APH1APSEN111929612297508 12471034 14572442 Affinity Capture-Western; Co-fractionation
APH1APSEN111164212297508 12471034 14572442 Affinity Capture-Western; Co-fractionation
APH1APSEN211929612297508 12471034 Affinity Capture-Western
APH1APSEN211164312297508 12471034 Affinity Capture-Western
APH1ANCSTN11696112297508 12471034 12857757 14572442 15257293 Affinity Capture-Western; Co-fractionation
APH1ANCSTN11929612297508 12471034 12857757 14572442 15257293 Affinity Capture-Western; Co-fractionation
PSENENAPH1A11929612740439 14572442 Affinity Capture-Western
PSENENAPH1A12095312740439 14572442 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
APH1Ars2275780, rs2298161, rs3754048 Gene overview in AlzGene
No data
No data
Animal Model Top
No data
No data

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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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