aph-1 anterior pharynx defective 1 [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: aph-1provided by FlyBase
Official Full Name: anterior pharynx defective 1provided by FlyBase
Primary source: FLYBASE:FBgn0031458
Locus tag: Dmel_CG2855
See related: AllianceGenome:FB:FBgn0031458
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Drosophila melanogaster
Lineage: Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
Also known as: aph; Aph-1; aph1; Aph1; APH1; CG2855; dAPH 1; dAph-1; dAPH1; Dm APH-1; Dmel\CG2855; l(2)23AB6; l(2)23Ag; pen-1; Pen-1
Summary: Predicted to enable protein-macromolecule adaptor activity. Involved in amyloid-beta formation; membrane protein proteolysis; and protein stabilization. Located in late endosome and recycling endosome. Part of gamma-secretase complex. Human ortholog(s) of this gene implicated in coronary artery disease. Orthologous to human APH1A (aph-1 homolog A, gamma-secretase subunit) and APH1B (aph-1 homolog B, gamma-secretase subunit). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	2L	NT_033779.5 (2766233..2767281)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	2L	NT_033779.4 (2766233..2767281)

Chromosome 2L - NT_033779.5 Genomic Context describing neighboring genes

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

Function	Evidence Code	Pubs
enables protein-macromolecule adaptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in Notch receptor processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in Notch receptor processing, ligand-dependent	IGI Inferred from Genetic Interaction more info	PubMed
involved_in Notch signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in Notch signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in Notch signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in amyloid-beta formation	IDA Inferred from Direct Assay more info	PubMed
involved_in amyloid-beta formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane protein ectodomain proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of catalytic activity	IEA Inferred from Electronic Annotation more info
involved_in protein processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein processing	IEA Inferred from Electronic Annotation more info
involved_in protein stabilization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
part_of gamma-secretase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of gamma-secretase complex	IDA Inferred from Direct Assay more info	PubMed
part_of gamma-secretase complex	IPI Inferred from Physical Interaction more info	PubMed
located_in late endosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in recycling endosome	IDA Inferred from Direct Assay more info	PubMed

Names: CG2855-PA; CG2855-PB; aph-1-PA; aph-1-PB; presenilin enhancer-1; presenilin stabilization factor

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