Homo sapiens Gene: PSENEN
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)
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:35745114-35747519
Strand Forward strand
Band q13.12
Transcripts
ENST00000222266 ENSP00000222266
ENST00000591949 ENSP00000468593
ENST00000587708 ENSP00000468411
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.
Experimentally validated
Total 15 [view]
Protein-Protein 14 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0006509 membrane protein ectodomain proteolysis
GO:0007219 Notch signaling pathway
GO:0007220 Notch receptor processing
GO:0016485 protein processing
GO:0031293 membrane protein intracellular domain proteolysis
GO:0042987 amyloid precursor protein catabolic process
GO:0043065 positive regulation of apoptotic process
GO:0043085 positive regulation of catalytic activity
GO:0048011 neurotrophin TRK receptor signaling pathway
GO:0097190 apoptotic signaling pathway
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0032580 Golgi cisterna membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
Notch pathway
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
KEGG
Notch signaling pathway pathway
Alzheimer's disease pathway
INOH
PID NCI
Presenilin action in Notch and Wnt signaling
p75(NTR)-mediated signaling
Syndecan-3-mediated signaling events
Notch signaling pathway
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