InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PSENEN

Summary

InnateDB Protein

IDBP-45231.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PSENEN

Protein Name

presenilin enhancer 2 homolog (C. elegans)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000222266

InnateDB Gene

IDBG-45229 (PSENEN)

Protein Structure

UniProt Annotation

Function

Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta- amyloid precursor protein). Probably represents the last step of maturation of gamma-secretase, facilitating endoproteolysis of presenilin and conferring gamma-secretase activity. {ECO:0000269PubMed:12522139, ECO:0000269PubMed:12763021}.

Subcellular Localization

Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus, Golgi stack membrane; Multi- pass membrane protein. Note=Predominantly located in the endoplasmic reticulum and in the cis-Golgi.

Disease Associations

Acne inversa, familial, 2 (ACNINV2) [MIM:613736]: A chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. {ECO:0000269PubMed:20929727}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. Expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, skeletal muscle, heart and brain. {ECO:0000269PubMed:12110170, ECO:0000269PubMed:12740439}.

Comments

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