AutismKB 2.0

Annotation Details for APH1B


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Basic Information Top
Gene Symbol:APH1B ( APH-1B,DKFZp564D0372,FLJ33115,PRO1328,PSFL,TAAV688 )
Gene Full Name: anterior pharynx defective 1 homolog B (C. elegans)
Band: 15q22.2
Quick LinksEntrez ID:83464; OMIM: 607630; Uniprot ID:APH1B_HUMAN; ENSEMBL ID: ENSG00000138613; HGNC ID: 24080
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005783IBA-endoplasmic reticulum-
GO:0005886TAS-plasma membrane-
GO:0005887IBA-integral component of plasma membrane-
GO:0016021IDA-integral component of membrane12297508
GO:0030133IDA-transport vesicle-
GO:0070765IBA-gamma-secretase complex-
GO ID Evidence Qualifier GO_term References
GO:0004175IBA-endopeptidase activity-
GO:0005515IPI-protein binding12297508
GO:0008233IDA-peptidase activity12297508
GO ID Evidence Qualifier GO_term References
GO:0007219IBA-Notch signaling pathway-
GO:0007219TAS-Notch signaling pathway-
GO:0007220IBA-Notch receptor processing-
GO:0007220TAS-Notch receptor processing-
GO:0016485IDA-protein processing12297508
GO:0031293TAS-membrane protein intracellular domain proteolysis-
GO:0043065TAS-positive regulation of apoptotic process-
GO:0043085IEA-positive regulation of catalytic activity-
GO:0048013TAS-ephrin receptor signaling pathway-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
APH1B+80C>T, rs1047552, rs11071738 Gene overview in AlzGene
No data
No data
Animal Model Top
  • MGI ID: MGI:3522097
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-031118-31'