WormBase Tree Display for Gene: WBGene00000147
expand all nodes | collapse all nodes | view schema
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 (8) | |||||||||
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 |