NCSTN

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]

Full Name

Nicastrin

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 (amyloid-beta precursor protein) (PubMed:10993067, PubMed:12679784, PubMed:25043039, PubMed:26280335, PubMed:30598546, PubMed:30630874).

The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels.

Biological Process

Adult behavior Source: Ensembl
Amyloid-beta formation Source: ARUK-UCL
Amyloid precursor protein biosynthetic process Source: Ensembl
Amyloid precursor protein catabolic process Source: ARUK-UCL
Amyloid precursor protein metabolic process Source: UniProtKB
Cellular response to calcium ion Source: Ensembl
Central nervous system myelination Source: Ensembl
Cerebellum development Source: Ensembl
Dopamine receptor signaling pathway Source: Ensembl
Epithelial cell proliferation Source: Ensembl
Glutamate receptor signaling pathway Source: Ensembl
Learning or memory Source: Ensembl
Membrane protein ectodomain proteolysis Source: HGNC-UCL
Membrane protein intracellular domain proteolysis Source: ComplexPortal
Myeloid cell homeostasis Source: Ensembl
Neuron apoptotic process Source: Ensembl
Notch receptor processing Source: ARUK-UCL
Notch signaling pathway Source: UniProtKB-KW
Positive regulation of amyloid precursor protein biosynthetic process Source: Ensembl
Positive regulation of catalytic activity Source: HGNC-UCL
Positive regulation of endopeptidase activity Source: ARUK-UCL
Protein processing Source: HGNC-UCL
Proteolysis Source: UniProtKB
Regulation of long-term synaptic potentiation Source: Ensembl
Short-term synaptic potentiation Source: Ensembl
T cell proliferation Source: Ensembl

Cellular Location

Other locations
Membrane
Cytoplasmic vesicle membrane
Melanosome
Note: Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

Involvement in disease

Acne inversa, familial, 1 (ACNINV1):
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.

Topology

Extracellular: 34-669
Helical: 670-690
Cytoplasmic: 691-709

PTM

N-glycosylated.

Anti-NCSTN antibodies

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Rabbit Anti-NCSTN Recombinant Antibody (D4F6N) (CBMAB-CP1714-LY)

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Target: NCSTN

Host: Rabbit

Antibody Isotype: IgG

Specificity: Human, Mouse, Rat, Monkey

Clone: D4F6N

Application*: WB, IP, IF, IF (IC)

NCSTN

Anti-NCSTN antibodies

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