Mus musculus Gene: Aph1a | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Gene | IDBG-174034.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | Aph1a | ||||||||||||||||||||||
Gene Name | anterior pharynx defective 1a homolog (C. elegans) | ||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||
Species | Mus musculus | ||||||||||||||||||||||
Ensembl Gene | ENSMUSG00000015750 | ||||||||||||||||||||||
Encoded Proteins |
anterior pharynx defective 1a homolog (C. elegans)
anterior pharynx defective 1a homolog (C. elegans)
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Protein Structure | |||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
Summary |
This gene encodes a subunit of the gamma-secretase complex, which is localized to the endoplasmic reticulum and golgi apparatus. Gamma-secretase is a multi-protein enzyme that catalyzes intramembraneous proteolysis of type I transmembrane proteins and is essential for many signaling pathways, including the Notch signaling pathway. Studies suggest that the protein encoded by this locus binds directly to substrates of the gamma-secretase complex, including the beta-amyloid precursor protein which is associated with Alzheimer disease progression. This gene is required for normal embryonic development and survival, and disruption is associated with defects in the yolk sack angiogenesis, neural tube formation, and somitogenesis. A pseudogene of this gene is located on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 3:95893969-95898288 | ||||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||||
Band | F2.1 | ||||||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 15 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 | |||||||||||||||||||||||
Species
Homo sapiens
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||
REACTOME |
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
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INOH | |||||||||||||||||||||||
PID NCI | |||||||||||||||||||||||
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
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KEGG |
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 | Q8BVF7 | ||||||||||||||||||||||
TrEMBL | Q6GTF1 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 226548 | ||||||||||||||||||||||
UniGene | Mm.306954 Mm.423592 Mm.485805 | ||||||||||||||||||||||
RefSeq | NM_146104 NM_146134 | ||||||||||||||||||||||
OMIM | |||||||||||||||||||||||
CCDS | CCDS17624 CCDS50999 | ||||||||||||||||||||||
HPRD | |||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
MGI ID | MGI:2385110 | ||||||||||||||||||||||
MGI Symbol | Aph1a | ||||||||||||||||||||||
EMBL | AK078343 AK148400 BC012406 BC024111 BC057865 CH466520 CH466620 | ||||||||||||||||||||||
GenPept | AAH12406 AAH24111 AAH57865 BAC37228 BAE28531 EDL38853 EDL39312 | ||||||||||||||||||||||
RNA Seq Atlas | 226548 | ||||||||||||||||||||||