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

    Gene ID: 33467, updated on 4-Apr-2024

    Summary

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    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, Apr 2022]
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    Genomic context

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    Location:
    23A5-23A5; 2-7 cM
    Exon count:
    2
    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_033779.5Genomic Context describing neighboring genes Neighboring gene SNAP associated protein Neighboring gene HemK methyltransferase 2 Neighboring gene Transportin-Serine/Arginine rich Neighboring gene Sorting nexin 21 Neighboring gene TBP-associated factor 10b Neighboring gene TBP-associated factor 10 Neighboring gene congested-like trachea

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Aph-1 is required to regulate Presenilin-mediated gamma-secretase activity and cell survival in Drosophila wing development. Cooper E, et al. Genesis, 2009 Mar. PMID 19191330, Free PMC Article
    2. The Intracellular Domain of the Frazzled/DCC Receptor Is a Transcription Factor Required for Commissural Axon Guidance. Neuhaus-Follini A, et al. Neuron, 2015 Aug 19. PMID 26291159, Free PMC Article
    3. Abeta42 overproduction associated with structural changes in the catalytic pore of gamma-secretase: common effects of Pen-2 N-terminal elongation and fenofibrate. Isoo N, et al. J Biol Chem, 2007 Apr 27. PMID 17329245
    4. Aph-1 contributes to the stabilization and trafficking of the gamma-secretase complex through mechanisms involving intermolecular and intramolecular interactions. Niimura M, et al. J Biol Chem, 2005 Apr 1. PMID 15644323
    5. Regulation of cell growth by Notch signaling and its differential requirement in normal vs. tumor-forming stem cells in Drosophila. Song Y, et al. Genes Dev, 2011 Dec 15. PMID 22190460, Free PMC Article

    See all (65) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Aph-1 is required to promote cell survival in the wing imaginal disc; aph-1 mutant cells are lost either through cell death or because of a defect in cell proliferation
      Title: Aph-1 is required to regulate Presenilin-mediated gamma-secretase activity and cell survival in Drosophila wing development.
    2. APH-1 stabilizes the presenilin holoprotein in the complex, whereas PEN-2 is required for endoproteolytic processing of presenilin and conferring gamma-secretase activity to the complex.
      Title: The role of presenilin cofactors in the gamma-secretase complex.
    3. the proper assembly of the Aph-1.nicastrin subcomplex with presenilin is the prerequisite for the trafficking as well as the enzymatic activity of the gamma-secretase complex and Aph-1 functions as a stabilizing scaffold in the assembly of this complex
      Title: Aph-1 contributes to the stabilization and trafficking of the gamma-secretase complex through mechanisms involving intermolecular and intramolecular interactions.
    4. Aph-1 and Nct may form a subcomplex that stabilizes the Psn holoprotein at an early step in gamma-secretase assembly.
      Title: Different cofactor activities in gamma-secretase assembly: evidence for a nicastrin-Aph-1 subcomplex.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by FlyBase

    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 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 

    General protein information

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    Preferred Names
    anterior pharynx defective 1
    Names
    CG2855-PA
    CG2855-PB
    aph-1-PA
    aph-1-PB
    presenilin enhancer-1
    presenilin stabilization factor

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference assembly

    Genomic

    1. NT_033779.5 Reference assembly

      Range
      2766233..2767281
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001273034.1 → NP_001259963.1  anterior pharynx defective 1, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001259963.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      Q9VQG2
      UniProtKB/TrEMBL
      M9PCE6
      Conserved Domains (1) summary
      pfam06105
      Location:2 → 225
      Aph-1; Aph-1 protein

    2. NM_134866.3 → NP_608710.1  anterior pharynx defective 1, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_608710.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      Q9VQG2
      UniProtKB/TrEMBL
      M9PCE6
      Related
      FBpp0077400
      Conserved Domains (1) summary
      pfam06105
      Location:2 → 225
      Aph-1; Aph-1 protein
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    M9PCE6 M9PCE6
    Q9VQG2.1 Q9VQG2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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