Version 5.4
| Bos taurus Gene: APH1A | |||||||||||||||
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| Summary | |||||||||||||||
| InnateDB Gene | IDBG-633431.3 | ||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||
| Gene Symbol | APH1A | ||||||||||||||
| Gene Name | gamma-secretase subunit APH-1A | ||||||||||||||
| Synonyms | |||||||||||||||
| Species | Bos taurus | ||||||||||||||
| Ensembl Gene | ENSBTAG00000021482 | ||||||||||||||
| Encoded Proteins |
gamma-secretase subunit APH-1A
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| Protein Structure | |||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||
| Entrez Gene | |||||||||||||||
| Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000117362:
This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the paralogous anterior pharynx defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin enhancer-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimer's disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants. [provided by RefSeq, Aug 2011] |
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| Gene Information | |||||||||||||||
| Type | Protein coding | ||||||||||||||
| Genomic Location | Chromosome 3:20416072-20419717 | ||||||||||||||
| Strand | Forward strand | ||||||||||||||
| Band | |||||||||||||||
| Transcripts |
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| Interactions | |||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 25 interaction(s) predicted by orthology.
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| Gene Ontology | |||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||
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Species
Homo sapiens
Mus musculus
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Gene ID
Gene Order
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| Pathway Predictions based on Human Orthology Data | |||||||||||||||
| NETPATH |
Notch pathway
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| REACTOME |
Regulated proteolysis of p75NTR pathway
NRIF signals cell death from the nucleus pathway
Nuclear signaling by ERBB4 pathway
Signaling by ERBB4 pathway
Activated NOTCH1 Transmits Signal to the Nucleus pathway
Signaling by NOTCH4 pathway
Signaling by NOTCH3 pathway
NOTCH2 Activation and Transmission of Signal to the Nucleus pathway
Constitutive Signaling by NOTCH1 PEST Domain Mutants pathway
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants pathway
Developmental Biology pathway
Signalling by NGF pathway
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant pathway
Signaling by NOTCH1 in Cancer pathway
Axon guidance pathway
p75 NTR receptor-mediated signalling pathway
FBXW7 Mutants and NOTCH1 in Cancer pathway
Signal Transduction pathway
Signaling by NOTCH2 pathway
Signaling by NOTCH1 PEST Domain Mutants in Cancer pathway
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer pathway
Signaling by NOTCH pathway
Cell death signalling via NRAGE, NRIF and NADE pathway
EPH-ephrin mediated repulsion of cells pathway
Signaling by NOTCH1 pathway
Signaling by NOTCH1 HD Domain Mutants in Cancer pathway
EPH-Ephrin signaling pathway
Disease pathway
Nuclear signaling by ERBB4 pathway
Disease pathway
Signaling by ERBB4 pathway
Constitutive Signaling by NOTCH1 PEST Domain Mutants pathway
Cell death signalling via NRAGE, NRIF and NADE pathway
EPH-ephrin mediated repulsion of cells pathway
Signaling by NOTCH1 pathway
Activated NOTCH1 Transmits Signal to the Nucleus pathway
Signaling by NOTCH2 pathway
Signaling by NOTCH3 pathway
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant pathway
NOTCH2 Activation and Transmission of Signal to the Nucleus pathway
EPH-Ephrin signaling pathway
Signaling by NOTCH1 in Cancer pathway
Signaling by NOTCH4 pathway
Signaling by NOTCH1 HD Domain Mutants in Cancer pathway
Signaling by NOTCH1 PEST Domain Mutants in Cancer pathway
FBXW7 Mutants and NOTCH1 in Cancer pathway
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer pathway
Axon guidance pathway
Signalling by NGF pathway
Developmental Biology pathway
Regulated proteolysis of p75NTR pathway
Signal Transduction pathway
p75 NTR receptor-mediated signalling pathway
NRIF signals cell death from the nucleus pathway
Signaling by NOTCH pathway
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants pathway
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| KEGG |
Notch signaling pathway pathway
Alzheimer's disease pathway
Notch signaling pathway pathway
Alzheimer's disease pathway
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| INOH | |||||||||||||||
| PID NCI |
Presenilin action in Notch and Wnt signaling
p75(NTR)-mediated signaling
Syndecan-3-mediated signaling events
Notch signaling pathway
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| Cross-References | |||||||||||||||
| SwissProt | |||||||||||||||
| TrEMBL | Q3SZ69 | ||||||||||||||
| UniProt Splice Variant | |||||||||||||||
| Entrez Gene | 539247 | ||||||||||||||
| UniGene | Bt.48923 Bt.66049 | ||||||||||||||
| RefSeq | NM_001034670 | ||||||||||||||
| HUGO | |||||||||||||||
| OMIM | |||||||||||||||
| CCDS | |||||||||||||||
| HPRD | |||||||||||||||
| IMGT | |||||||||||||||
| EMBL | BC103090 DAAA02007262 | ||||||||||||||
| GenPept | AAI03091 | ||||||||||||||
| RNA Seq Atlas | 539247 | ||||||||||||||