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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]
NCSTN (Nicastrin) is a Protein Coding gene. Diseases associated with NCSTN include Acne Inversa, Familial, 1 and Acne. Among its related pathways are NOTCH2 Activation and Transmission of Signal to the Nucleus and IL-2 Pathway. Gene Ontology (GO) annotations related to this gene include peptidase activity and endopeptidase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004175 | endopeptidase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 12297508 |
GO:0008233 | peptidase activity | IEA | -- |
GO:0030674 | protein binding, bridging | IMP | 12297508 |
GO:0051117 | ATPase binding | IPI | 26094765 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005739 | mitochondrion | IEA | -- |
GO:0005764 | lysosome | IEA | -- |
GO:0005765 | lysosomal membrane | IEA,HDA | 17897319 |
GO:0005769 | early endosome | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by NOTCH1 | ||
2 | Notch Signaling Pathway (WikiPathways) | ||
3 | p75 NTR receptor-mediated signalling | ||
4 | NOTCH2 Activation and Transmission of Signal to the Nucleus | ||
5 | Innate Immune System |
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|
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 | IDA | 15274632 |
GO:0007212 | dopamine receptor signaling pathway | IEA | -- |
GO:0007215 | glutamate receptor signaling pathway | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
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: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NCSTN 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NCSTN 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ncstn 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ncstn 30 |
|
||
Dog (Canis familiaris) |
Mammalia | NCSTN 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NCSTN 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | NCSTN 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NCSTN 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NCSTN 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ncstn 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.19808 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ncstn 30 |
|
||
CABZ01052486.1 31 |
|
OneToOne | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001734 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | nct 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | aph-2 30 31 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G52640 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0736500 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1085307081 | Pathogenic: Familial acne inversa 1 | 160,354,238(+) |
C/T NM_015331.3(NCSTN):c.1300C>T (p.Arg434Ter) |
NONSENSE | |
rs114888322 | Likely Benign: not provided | 160,357,184(+) |
T/A NM_015331.3(NCSTN):c.1938T>A (p.Ser646=) |
SYNONYMOUS_VARIANT,INTRON | |
rs115808642 | Benign: not provided | 160,356,670(+) |
C/T NM_015331.3(NCSTN):c.1710C>T (p.Ala570=) |
SYNONYMOUS | |
rs12239747 | Benign: not specified | 160,351,275(+) |
A/G NM_015331.3(NCSTN):c.636A>G (p.Leu212=) |
SYNONYMOUS_VARIANT,INTRON | |
rs1266104510 | Pathogenic: not provided | 160,343,408(+) |
AG/A NM_015331.3(NCSTN):c.17del (p.Gly6fs) |
FRAMESHIFT_VARIANT,FIVE_PRIME_UTR |
Disorder | Aliases | PubMed IDs |
---|---|---|
acne inversa, familial, 1 |
|
|
acne |
|
|
hidradenitis suppurativa |
|
|
hidradenitis |
|
|
alzheimer disease |
|
|