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    aph-1 Gamma-secretase subunit aph-1 [ Caenorhabditis elegans ]

    Gene ID: 172747, updated on 9-Dec-2024

    Summary

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    Official Symbol
    aph-1
    Official Full Name
    Gamma-secretase subunit aph-1
    Primary source
    WormBase:WBGene00000147
    Locus tag
    CELE_VF36H2L.1
    See related
    AllianceGenome:WB:WBGene00000147
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Caenorhabditis elegans (strain: Bristol N2)
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
    Summary
    Predicted to enable protein-macromolecule adaptor activity. Involved in several processes, including Notch signaling pathway; pharynx development; and protein localization to cell surface. Predicted to be located in membrane. Predicted to be part of gamma-secretase complex. Predicted to be active in endoplasmic reticulum. 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]
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    Genomic context

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    See aph-1 in Genome Data Viewer
    Location:
    chromosome: I
    Exon count:
    4
    Sequence:
    Chromosome: I; NC_003279.8 (9232068..9233560, complement)

    Chromosome I - NC_003279.8Genomic Context describing neighboring genes Neighboring gene Calponin-homology (CH) domain-containing protein Neighboring gene BPL/LPL catalytic domain-containing protein Neighboring gene Gamma-tubulin interacting protein 2 Neighboring gene Phospholipid-transporting ATPase;putative phospholipid-transporting ATPase tat-5 Neighboring gene Equilibrative nucleoside transporter 1;Equilibrative nucleoside transporter 3

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_003279.8

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. APH-1 is a multipass membrane protein essential for the Notch signaling pathway in Caenorhabditis elegans embryos. Goutte C, et al. Proc Natl Acad Sci U S A, 2002 Jan 22. PMID 11792846, Free PMC Article
    2. The transmembrane domain region of nicastrin mediates direct interactions with APH-1 and the gamma-secretase complex. Morais VA, et al. J Biol Chem, 2003 Oct 31. PMID 12917438
    3. A conserved GXXXG motif in APH-1 is critical for assembly and activity of the gamma-secretase complex. Lee SF, et al. J Biol Chem, 2004 Feb 6. PMID 14627705
    4. Notch signaling without the APH-2/nicastrin subunit of gamma secretase in Caenorhabditis elegans germline stem cells. Brinkley DM, et al. Genetics, 2024 Jul 8. PMID 38717968
    5. Co-expression of nicastrin and presenilin rescues a loss of function mutant of APH-1. Edbauer D, et al. J Biol Chem, 2004 Sep 3. PMID 15210705

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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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    Markers

    Homology

    Gene Ontology Provided by WormBase

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    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 signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in Notch signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell fate commitment IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in cell fate commitment involved in pattern specification IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in embryo development ending in birth or egg hatching IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in embryonic morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in oocyte development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in pharynx development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization to cell surface IMP
    Inferred from Mutant Phenotype
    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
    		  
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    Gamma-secretase subunit aph-1
    NP_492469.1
    • Confirmed by transcript evidence

    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. NC_003279.8 Reference assembly

      Range
      9232068..9233560 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_060068.7 → NP_492469.1  Gamma-secretase subunit aph-1 [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_492469.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      O45876
      Conserved Domains (1) summary
      pfam06105
      Location:7 → 252
      Aph-1; Aph-1 protein
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O45876.1

    Gene LinkOut

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