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Aliases for NCSTN Gene

Aliases for NCSTN Gene

  • Nicastrin 2 3
  • Anterior Pharynx-Defective 2 3
  • ATAG1874 3
  • KIAA0253 4

External Ids for NCSTN Gene

Previous GeneCards Identifiers for NCSTN Gene

  • GC01P158105
  • GC01P156045
  • GC01P157090
  • GC01P157529
  • GC01P157126
  • GC01P158579
  • GC01P131669

Summaries for NCSTN Gene

Entrez Gene Summary for NCSTN Gene

  • 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]

GeneCards Summary for NCSTN Gene

NCSTN (Nicastrin) is a Protein Coding gene. Diseases associated with NCSTN include acne inversa, familial, 1 and acne. Among its related pathways are PI-3K cascade and Signaling by FGFR. GO annotations related to this gene include endopeptidase activity.

UniProtKB/Swiss-Prot for NCSTN Gene

  • 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

Gene Wiki entry for NCSTN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NCSTN Gene

Genomics for NCSTN Gene

Regulatory Elements for NCSTN Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NCSTN Gene

Start:
160,343,272 bp from pter
End:
160,358,952 bp from pter
Size:
15,681 bases
Orientation:
Plus strand

Genomic View for NCSTN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NCSTN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NCSTN Gene

Proteins for NCSTN Gene

  • Protein details for NCSTN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92542-NICA_HUMAN
    Recommended name:
    Nicastrin
    Protein Accession:
    Q92542
    Secondary Accessions:
    • Q5T207
    • Q5T208
    • Q86VV5

    Protein attributes for NCSTN Gene

    Size:
    709 amino acids
    Molecular mass:
    78411 Da
    Quaternary structure:
    • Component of the gamma-secretase complex, a complex composed of a presenilin homodimer (PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PEN2. Such minimal complex is sufficient for secretase activity, although other components may exist. Binds to proteolytic processed C-terminal fragments C83 and C99 of the amyloid precursor protein (APP)

    Three dimensional structures from OCA and Proteopedia for NCSTN Gene

    Alternative splice isoforms for NCSTN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NCSTN Gene

Proteomics data for NCSTN Gene at MOPED

Post-translational modifications for NCSTN Gene

  • Ubiquitination at Lys351 and Lys403
  • Glycosylation at Asn45, Asn55, Asn187, Asn200, Asn204, Asn264, Asn387, Asn417, Asn435, Asn464, Asn506, Asn530, Asn562, Asn573, Asn580, and Asn612
  • Modification sites at PhosphoSitePlus

Other Protein References for NCSTN Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NCSTN (nicastrin)

No data available for DME Specific Peptides for NCSTN Gene

Domains for NCSTN Gene

Protein Domains for NCSTN Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q92542

UniProtKB/Swiss-Prot:

NICA_HUMAN :
  • Q92542
Family:
  • Belongs to the nicastrin family.
genes like me logo Genes that share domains with NCSTN: view

No data available for Gene Families for NCSTN Gene

Function for NCSTN Gene

Molecular function for NCSTN Gene

UniProtKB/Swiss-Prot 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
UniProtKB/Swiss-Prot Induction: Constitutively expressed in neural cells.

Gene Ontology (GO) - Molecular Function for NCSTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IEA --
GO:0005515 protein binding IPI 12297508
GO:0008233 peptidase activity --
genes like me logo Genes that share ontologies with NCSTN: view
genes like me logo Genes that share phenotypes with NCSTN: view

Animal Models for NCSTN Gene

MGI Knock Outs for NCSTN:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for NCSTN Gene

Localization for NCSTN Gene

Subcellular locations from UniProtKB/Swiss-Prot for NCSTN Gene

Membrane; Single-pass type I membrane protein. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NCSTN Gene COMPARTMENTS Subcellular localization image for NCSTN gene
Compartment Confidence
endoplasmic reticulum 4
golgi apparatus 4
plasma membrane 4
lysosome 2
vacuole 2
cytoskeleton 1
cytosol 1
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for NCSTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IDA 17897319
GO:0005783 endoplasmic reticulum ISS --
GO:0005794 Golgi apparatus ISS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane ISS --
genes like me logo Genes that share ontologies with NCSTN: view

Pathways for NCSTN Gene

genes like me logo Genes that share pathways with NCSTN: view

PCR Array Products

Gene Ontology (GO) - Biological Process for NCSTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002262 myeloid cell homeostasis IEA --
GO:0006508 proteolysis NAS 10993067
GO:0006509 membrane protein ectodomain proteolysis ISS --
GO:0007219 Notch signaling pathway TAS --
GO:0007220 Notch receptor processing TAS 15274632
genes like me logo Genes that share ontologies with NCSTN: view

Compounds for NCSTN Gene

(2) Novoseek inferred chemical compound relationships for NCSTN Gene

Compound -log(P) Hits PubMed IDs
lipid 2.76 2
cholesterol 0 1
genes like me logo Genes that share compounds with NCSTN: view

Transcripts for NCSTN Gene

Unigene Clusters for NCSTN Gene

Nicastrin:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NCSTN

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for NCSTN

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NCSTN Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - -
SP4: -
SP5: - - - - -
SP6: - - - - - - - - - - -
SP7: - - -
SP8: - - -
SP9:
SP10:
SP11: - - -
SP12: - -
SP13: - - -
SP14:
SP15:
SP16:

ExUns: 17a · 17b · 17c ^ 18a · 18b ^ 19 ^ 20a · 20b · 20c ^ 21a · 21b · 21c ^ 22a · 22b · 22c
SP1: - - - -
SP2: - - - -
SP3: - -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9: - - - - -
SP10: - -
SP11:
SP12:
SP13:
SP14: -
SP15:
SP16:

Relevant External Links for NCSTN Gene

GeneLoc Exon Structure for
NCSTN
ECgene alternative splicing isoforms for
NCSTN

Expression for NCSTN Gene

mRNA expression in normal human tissues for NCSTN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NCSTN Gene

SOURCE GeneReport for Unigene cluster for NCSTN Gene Hs.517249

mRNA Expression by UniProt/SwissProt for NCSTN Gene

Q92542-NICA_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expressions with NCSTN: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for NCSTN Gene

Orthologs for NCSTN Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NCSTN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NCSTN 35
  • 99.58 (n)
  • 99.72 (a)
NCSTN 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NCSTN 35
  • 87.49 (n)
  • 88.79 (a)
NCSTN 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NCSTN 35
  • 86.42 (n)
  • 90.9 (a)
NCSTN 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ncstn 35
  • 86.82 (n)
  • 88.98 (a)
Ncstn 16
Ncstn 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NCSTN 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NCSTN 36
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ncstn 35
  • 86.72 (n)
  • 88.84 (a)
chicken
(Gallus gallus)
Aves NCSTN 35
  • 68.84 (n)
  • 69.17 (a)
NCSTN 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NCSTN 36
  • 60 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.19808 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ncstn 35
  • 63.48 (n)
  • 61.76 (a)
zebrafish
(Danio rerio)
Actinopterygii CABZ01052486.1 36
  • 56 (a)
OneToOne
ncstn 35
  • 59.97 (n)
  • 58.47 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001734 35
  • 44.25 (n)
  • 33.86 (a)
fruit fly
(Drosophila melanogaster)
Insecta nct 35
  • 44.08 (n)
  • 33.97 (a)
nct 36
  • 30 (a)
OneToOne
nct 37
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea aph-2 35
  • 41.82 (n)
  • 26.85 (a)
aph-2 36
  • 22 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G52640 35
  • 40.39 (n)
  • 27.9 (a)
rice
(Oryza sativa)
Liliopsida Os02g0736500 35
  • 42.72 (n)
  • 31.12 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToOne
Species with no ortholog for NCSTN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NCSTN Gene

ENSEMBL:
Gene Tree for NCSTN (if available)
TreeFam:
Gene Tree for NCSTN (if available)

Paralogs for NCSTN Gene

No data available for Paralogs for NCSTN Gene

Variants for NCSTN Gene

Sequence variations from dbSNP and Humsavar for NCSTN Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs10059 -- 160,358,289(+) CTTTT(C/T)TTGCC utr-variant-3-prime
rs1004607 -- 160,355,065(-) CAAAA(C/T)GTGTT intron-variant
rs1041064 -- 160,350,566(+) CGTTA(A/G)TTCTT intron-variant
rs1041065 -- 160,350,569(+) TAGTT(C/T)TTCTC intron-variant
rs1041066 -- 160,351,866(+) GCCCC(A/G)CTCTA intron-variant

Relevant External Links for NCSTN Gene

HapMap Linkage Disequilibrium report
NCSTN
Human Gene Mutation Database (HGMD)
NCSTN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NCSTN Gene

Disorders for NCSTN Gene

MalaCards: The human disease database

MalaCards: The human disease database. (5) Diseases for NCSTN Gene including...

Search for NCSTN Gene in MalaCards »

(1) OMIM Diseases for NCSTN Gene (605254)

UniProtKB/Swiss-Prot

NICA_HUMAN
  • 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:0000269 PubMed:20929727, ECO:0000269 PubMed:21430701, ECO:0000269 PubMed:21495993}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for NCSTN Gene

(3) Novoseek inferred disease relationships for NCSTN Gene

Disease -log(P) Hits PubMed IDs
alzheimers disease 80.7 23
senile plaques 70.5 4
neurodegeneration 19.5 1

Relevant External Links for NCSTN

Genetic Association Database (GAD)
NCSTN
Human Genome Epidemiology (HuGE) Navigator
NCSTN
genes like me logo Genes that share disorders with NCSTN: view

Publications for NCSTN Gene

  1. Nicastrin, a key regulator of presenilin function, is expressed constitutively in human neural cell lines. (PMID: 11396676) Satoh J. … Kuroda Y. (Neuropathology 2001) 3 4 23
  2. The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample. (PMID: 11992262) Dermaut B. … Van Broeckhoven C. (Am. J. Hum. Genet. 2002) 3 23 48
  3. Association analysis between Alzheimer's disease and the Nicastrin gene polymorphisms. (PMID: 12419494) Orlacchio A. … Bernardi G. (Neurosci. Lett. 2002) 3 23 48
  4. Gamma-secretase is a membrane protein complex comprised of presenilin, nicastrin, Aph-1, and Pen-2. (PMID: 12740439) Kimberly W.T. … Selkoe D.J. (Proc. Natl. Acad. Sci. U.S.A. 2003) 3 4 23
  5. Nicastrin gene in familial and sporadic Alzheimer's disease. (PMID: 14642438) Confaloni A. … Cantafora A. (Neurosci. Lett. 2003) 3 23 48

Products for NCSTN Gene

Sources for NCSTN Gene

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