Homo sapiens Gene: PSENEN | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Gene | IDBG-45229.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | PSENEN | ||||||||||||||||||||||
Gene Name | presenilin enhancer 2 homolog (C. elegans) | ||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Gene | ENSG00000205155 | ||||||||||||||||||||||
Encoded Proteins |
presenilin enhancer 2 homolog (C. elegans)
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Protein Structure | |||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
Summary |
Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amyloid precursor protein. Signaling by Notch receptors mediates a wide range of developmental cell fates. Processing of the beta-amyloid precursor protein generates neurotoxic amyloid beta peptides, the major component of senile plaques associated with Alzheimer's disease. This gene encodes a protein that is required for Notch pathway signaling, and for the activity and accumulation of gamma-secretase. [provided by RefSeq, Jul 2008] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 19:35745114-35747519 | ||||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||||
Band | q13.12 | ||||||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
They are also associated with 6 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
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||
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 | |||||||||||||||||||||||
TrEMBL | K7ERS5 K7ES79 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 55851 | ||||||||||||||||||||||
UniGene | |||||||||||||||||||||||
RefSeq | NM_001281532 NM_172341 | ||||||||||||||||||||||
HUGO | HGNC:30100 | ||||||||||||||||||||||
OMIM | 607632 | ||||||||||||||||||||||
CCDS | CCDS12474 | ||||||||||||||||||||||
HPRD | 06362 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC002398 AD000671 | ||||||||||||||||||||||
GenPept | |||||||||||||||||||||||
RNA Seq Atlas | 55851 | ||||||||||||||||||||||