InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NCSTN

Summary

InnateDB Protein

IDBP-104044.7

Last Modified

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

Gene Symbol

NCSTN

Protein Name

nicastrin

Synonyms

ATAG1874;

Species

Homo sapiens

Ensembl Protein

ENSP00000357042

InnateDB Gene

IDBG-104034 (NCSTN)

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). It probably represents a stabilizing cofactor required for the assembly of the gamma-secretase complex.

Subcellular Localization

Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Melanosome {ECO:0000269PubMed:12643545, ECO:0000269PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

Disease Associations

Acne inversa, familial, 1 (ACNINV1) [MIM:142690]: 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, ECO:0000269PubMed:21430701, ECO:0000269PubMed:21495993}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. {ECO:0000269PubMed:11396676}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 101 experimentally validated interaction(s) in this database.
They are also associated with 13 interaction(s) predicted by orthology.

Experimentally validated
Total	101 [view]
Protein-Protein	101 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	13 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0006508	proteolysis
GO:0006509	membrane protein ectodomain proteolysis
GO:0007219	Notch signaling pathway
GO:0007220	Notch receptor processing
GO:0016485	protein processing
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization
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:0005765	lysosomal membrane
GO:0005783	endoplasmic reticulum
GO:0005794	Golgi apparatus
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0042470	melanosome
GO:0070062	extracellular vesicular exosome