InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: NCSTN

Summary

InnateDB Gene

IDBG-104034.6

Last Modified

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

Gene Symbol

NCSTN

Gene Name

nicastrin

Synonyms

ATAG1874

Species

Homo sapiens

Ensembl Gene

ENSG00000162736

Encoded Proteins

IDBP-104036

nicastrin

IDBP-104044

nicastrin

IDBP-389269

nicastrin

IDBP-389270

nicastrin

IDBP-389272

nicastrin

IDBP-389273

nicastrin

IDBP-389274

nicastrin

IDBP-389275

nicastrin

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes a Type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins, including Notch receptors and beta-amyloid precursor protein, and may be a stabilizing cofactor required for gamma-secretase complex assembly. The cleavage of beta-amyloid precursor protein yields amyloid beta peptide, the main component of the neuritic plaque and the hallmark lesion in the brains of patients with Alzheimer's disease; however, the nature of the encoded protein's role in Alzheimer's disease is not known for certain. Alternatively spliced transcript variants have been described, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
This gene encodes a type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins, including Notch receptors and beta-amyloid precursor protein, and may be a stabilizing cofactor required for gamma-secretase complex assembly. The cleavage of beta-amyloid precursor protein yields amyloid beta peptide, the main component of the neuritic plaque and the hallmark lesion in the brains of patients with Alzheimer\'s disease; however, the nature of the encoded protein\'s role in Alzheimer\'s disease is not known for certain. Mutations in this gene are associated with familial acne inversa. A pseudogene of this gene is present on chromosome 21. Alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Feb 2014]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:160343272-160358952

Strand

Forward strand

Band

q23.2

Transcripts

ENST00000294785	ENSP00000294785
ENST00000368063	ENSP00000357042
ENST00000437169	ENSP00000415442
ENST00000421914	ENSP00000390409
ENST00000438008	ENSP00000389370
ENST00000424645	ENSP00000388118
ENST00000424754	ENSP00000410124
ENST00000435149	ENSP00000407849
ENST00000465223
ENST00000467837
ENST00000491332
ENST00000459963
ENST00000491390
ENST00000469159

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:0004175	endopeptidase activity
GO:0005515	protein binding
GO:0008233	peptidase activity

Biological Process

GO:0002262	myeloid cell homeostasis
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:0042098	T cell proliferation
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:0050435	beta-amyloid metabolic process
GO:0050673	epithelial cell proliferation
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