Psenen presenilin enhancer gamma secretase subunit [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Psenenprovided by MGI
Official Full Name: presenilin enhancer gamma secretase subunitprovided by MGI
Primary source: MGI:MGI:1913590
See related: Ensembl:ENSMUSG00000036835 AllianceGenome:MGI:1913590
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Pen2; Pen-2; 1700023M09Rik
Summary: Enables endopeptidase activator activity. Involved in positive regulation of endopeptidase activity and protein processing. Acts upstream of or within Notch receptor processing. Part of gamma-secretase complex. Is expressed in early tubule; female associated reproductive structure; male associated reproductive structure; ovary; and testis. Human ortholog(s) of this gene implicated in hidradenitis suppurativa. Orthologous to human PSENEN (presenilin enhancer, gamma-secretase subunit). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in large intestine adult (RPKM 80.2), kidney adult (RPKM 63.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B1; 7 18.6 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (30261290..30263052, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (30561865..30563627, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Functional and topological analysis of PSENEN, the fourth subunit of the gamma-secretase complex.
Title: Functional and topological analysis of PSENEN, the fourth subunit of the γ-secretase complex.
Presenilin enhancer 2 is crucial for the transition of apical progenitors into neurons but into not basal progenitors in the developing hippocampus.
Title: Presenilin enhancer 2 is crucial for the transition of apical progenitors into neurons but into not basal progenitors in the developing hippocampus.
Pen-2 Negatively Regulates the Differentiation of Oligodendrocyte Precursor Cells into Astrocytes in the Central Nervous System.
Title: Pen-2 Negatively Regulates the Differentiation of Oligodendrocyte Precursor Cells into Astrocytes in the Central Nervous System.
Assembly of gamma-secretase occurs through stable dimers after exit from the endoplasmic reticulum.
Title: Assembly of γ-secretase occurs through stable dimers after exit from the endoplasmic reticulum.
Super-resolution microscopy reveals majorly mono- and dimeric presenilin1/gamma-secretase at the cell surface.
Title: Super-resolution microscopy reveals majorly mono- and dimeric presenilin1/γ-secretase at the cell surface.
Conditional inactivation of Pen-2 in the developing neocortex leads to rapid switch of apical progenitors to basal progenitors.
Title: Conditional Inactivation of Pen-2 in the Developing Neocortex Leads to Rapid Switch of Apical Progenitors to Basal Progenitors.
Using knockout cell lines in combination with siRNA and immunoprecipitation approaches, our data clearly demonstrated that the Pen-2 and PS1 are sufficient to form a functionally active gamma-secretase that is capable of catalyzing the processing of Notch. This finding strongly suggests that Pen-2 is the most crucial component in gamma-secretase complex in addition to presenilin that functions as the catalytic subunit.
Title: Pen-2 and Presenilin are Sufficient to Catalyze Notch Processing.
Cleavage of the Interleukin-11 receptor induces processing of its C-terminal fragments by the gamma-secretase and the proteasome.
Title: Cleavage of the Interleukin-11 receptor induces processing of its C-terminal fragments by the gamma-secretase and the proteasome.
the G206D mutation reduced presenilin-1-presenilin enhancer 2 interaction, but did not abolish gamma-secretase formation and presenilin-1 endoproteolysis
Title: G206D Mutation of Presenilin-1 Reduces Pen2 Interaction, Increases Aβ42/Aβ40 Ratio and Elevates ER Ca(2+) Accumulation.
Data show that the expression level of presenilin enhancer-2 (Pen-2) is relatively high in central nervous system at the early stages of postnatal development, but declines, gradually in adult mice.
Title: Distribution and expression of Pen-2 in the central nervous system of APP/PS1 double transgenic mice.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables endopeptidase activator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables endopeptidase activator activity	ISO Inferred from Sequence Orthology more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Notch receptor processing	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within Notch receptor processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in Notch receptor processing	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in amyloid precursor protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in amyloid precursor protein metabolic process	ISO Inferred from Sequence Orthology more info
involved_in amyloid-beta formation	ISO Inferred from Sequence Orthology more info
involved_in membrane protein ectodomain proteolysis	ISO Inferred from Sequence Orthology more info
involved_in membrane protein intracellular domain proteolysis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of catalytic activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of endopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of endopeptidase activity	ISO Inferred from Sequence Orthology more info
involved_in protein processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein processing	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi membrane	NAS Non-traceable Author Statement more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	NAS Non-traceable Author Statement more info	PubMed
located_in endoplasmic reticulum membrane	NAS Non-traceable Author Statement more info	PubMed
part_of gamma-secretase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of gamma-secretase complex	IDA Inferred from Direct Assay more info	PubMed
part_of gamma-secretase complex	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in presynaptic membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: gamma-secretase subunit PEN-2

Names: presenilin enhancer 2 homolog; presenilin enhancer protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001364016.1 → NP_001350945.1 gamma-secretase subunit PEN-2

Status: VALIDATED

Source sequence(s)

AC167970

Consensus CDS

CCDS21099.1

UniProtKB/Swiss-Prot

Q9CQR7

UniProtKB/TrEMBL

A0A140LHM2

Related

ENSMUSP00000146469.2, ENSMUST00000208628.2

Conserved Domains (1) summary

pfam10251
Location:7 → 99

PEN-2; Presenilin enhancer-2 subunit of gamma secretase
NM_001364017.1 → NP_001350946.1 gamma-secretase subunit PEN-2

Status: VALIDATED

Source sequence(s)

AC167970, AV576632, W65052

Consensus CDS

CCDS21099.1

UniProtKB/Swiss-Prot

Q9CQR7

UniProtKB/TrEMBL

A0A140LHM2

Conserved Domains (1) summary

pfam10251
Location:7 → 99

PEN-2; Presenilin enhancer-2 subunit of gamma secretase
NM_025498.3 → NP_079774.1 gamma-secretase subunit PEN-2

See identical proteins and their annotated locations for NP_079774.1

Status: VALIDATED

Source sequence(s)

AC167970, BC081443

Consensus CDS

CCDS21099.1

UniProtKB/Swiss-Prot

Q9CQR7

UniProtKB/TrEMBL

A0A140LHM2

Related

ENSMUSP00000044682.7, ENSMUST00000043898.8

Conserved Domains (1) summary

pfam10251
Location:7 → 99

PEN-2; Presenilin enhancer-2 subunit of gamma secretase