WormBase Tree Display for Gene: WBGene00000147

WBGene00000147 SMap: S_parent: Sequence: VF36H2L
  Identity: Version: 1
    Name: CGC_name: aph-1 Person_evidence: WBPerson498
      Sequence_name: VF36H2L.1
      Molecular_name: VF36H2L.1
        VF36H2L.1.1
        CE16526
      Other_name: pen-1
        CELE_VF36H2L.1 Accession_evidence: NDB BX284601
      Public_name: aph-1
    DB_info: Database (11)
    Species: Caenorhabditis elegans
    History: Version_change: 1 07 Apr 2004 11:29:20 WBPerson1971 Event: Imported: Initial conversion from geneace
    Status: Live
  Gene_info: Biotype: SO:0001217
    Gene_class: aph
    Allele (29)
    Legacy_information: [C.elegansII] zu123 : maternal effect lethal, no anterior pharynx;resembles Glp-1 embryonic phenotype but no Lag or germ line phenotypes. Maternal rescue complete.OA1: zu147 (weaker allele).[JJ]
      or28 : mutants exhibit a recessive, fully penetrant egg-laying defect; aph-1(or28) is also maternal effect Emb.
    Strain: WBStrain00004780
      WBStrain00007372
      WBStrain00007373
      WBStrain00007374
      WBStrain00007375
    RNASeq_FPKM (74)
    GO_annotation (24)
    Contained_in_operon: CEOP1542
    Ortholog (38)
    Structured_description: Concise_description: aph-1 encodes an unfamiliar protein predicted to have seven transmembrane domains; APH-1 is a component of the GLP-1/LIN-12 (Notch) pathway, is required maternally for embryonic viability, and also affects morphogenesis, egg laying, germ line proliferation, and translocation of APH-2 to the cell surface; with PEN-2, APH-1 is required for Notch pathway signaling, gamma-secretase cleavage of beta-amyloid precursor protein, and presenilin protein accumulation. Paper_evidence: WBPaper00005082
            WBPaper00005374
          Curator_confirmed: WBPerson48
          Date_last_updated: 17 Jun 2004 00:00:00
      Automated_description: Predicted to enable protein-macromolecule adaptor activity. Involved in several processes, including cell differentiation; pharynx development; and protein localization to cell surface. Predicted to be located in endoplasmic reticulum. Predicted to be part of gamma-secretase complex. Human ortholog(s) of this gene implicated in coronary artery disease. Is an ortholog of human APH1A (aph-1 homolog A, gamma-secretase subunit) and APH1B (aph-1 homolog B, gamma-secretase subunit). Paper_evidence: WBPaper00065943
          Curator_confirmed: WBPerson324
            WBPerson37462
          Inferred_automatically: This description was generated automatically by a script based on data from the WS291 version of WormBase
          Date_last_updated: 29 Nov 2023 00:00:00
  Disease_info: Potential_model: DOID:3393 Homo sapiens Inferred_automatically: Inferred by orthology to human genes with DO annotation (HGNC:24080)
  Molecular_info: Corresponding_CDS: VF36H2L.1
    Corresponding_transcript: VF36H2L.1.1
    Other_sequence (18)
    Associated_feature: WBsf664684
      WBsf664685
      WBsf220056
      WBsf220057
  Experimental_info: RNAi_result (20)
    Expr_pattern: Expr1013430
      Expr1030079
      Expr1158014
      Expr2009358
      Expr2027594
    Drives_construct: WBCnstr00007289
      WBCnstr00037704
    Construct_product: WBCnstr00007283
      WBCnstr00007288
      WBCnstr00007289
      WBCnstr00007290
      WBCnstr00037704
    Microarray_results (19)
    Expression_cluster (106)
    Interaction: WBInteraction000002729
      WBInteraction000002730
      WBInteraction000002731
      WBInteraction000006226
      WBInteraction000006459
      WBInteraction000007150
      WBInteraction000009396
      WBInteraction000009694
      WBInteraction000028324
      WBInteraction000034440
      WBInteraction000035577
      WBInteraction000109215
      WBInteraction000109449
      WBInteraction000145552
      WBInteraction000153644
      WBInteraction000155139
      WBInteraction000165204
      WBInteraction000165962
      WBInteraction000183386
      WBInteraction000191943
      WBInteraction000203099
      WBInteraction000230957
      WBInteraction000231120
      WBInteraction000244599
      WBInteraction000268273
      WBInteraction000289923
      WBInteraction000327454
      WBInteraction000360322
      WBInteraction000373726
      WBInteraction000394771
      WBInteraction000412612
      WBInteraction000458100
      WBInteraction000466037
      WBInteraction000501020
      WBInteraction000501021
      WBInteraction000501409
      WBInteraction000501765
      WBInteraction000501766
      WBInteraction000521730
      WBInteraction000521733
      WBInteraction000521897
      WBInteraction000521898
      WBInteraction000521899
      WBInteraction000521900
      WBInteraction000521901
      WBInteraction000521902
      WBInteraction000521903
      WBInteraction000521904
      WBInteraction000521905
      WBInteraction000521916
      WBInteraction000521917
      WBInteraction000521918
      WBInteraction000524376
      WBInteraction000541604
      WBInteraction000541606
      WBInteraction000541607
      WBInteraction000541609
      WBInteraction000541610
      WBInteraction000541719
      WBInteraction000541720
      WBInteraction000541721
      WBInteraction000560766
    WBProcess: WBbiopr:00000072
  Map_info: Map: I Position: 3.6794 Error: 0.007271
    Well_ordered
    Positive: Positive_clone: VF36H2L Inferred_automatically: From CDS info
            From sequence, transcript, pseudogene data
    Mapping_data (2)
  Reference (34)
  Method: Gene