Version 5.4
Mus musculus Gene: Ncstn
Summary
InnateDB Gene IDBG-204941.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Ncstn
Gene Name nicastrin
Synonyms 9430068N19Rik; AA727311; Aph2; D1Dau13e; Kiaa0253; mKIAA0253; Nct
Species Mus musculus
Ensembl Gene ENSMUSG00000003458
Encoded Proteins
IDBP-204943
nicastrin
IDBP-533815
nicastrin
IDBP-534633
nicastrin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000162736:
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 1:172066013-172082795
Strand Reverse strand
Band H3
Transcripts
ENSMUST00000003550 ENSMUSP00000003550
ENSMUST00000140643 ENSMUSP00000119128
ENSMUST00000146137 ENSMUSP00000120663
ENSMUST00000135928
ENSMUST00000122986
ENSMUST00000142825
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
They are also associated with 89 interaction(s) predicted by orthology.
Experimentally validated
Total 19 [view]
Protein-Protein 19 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 89 [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:0016485 protein processing
GO:0042098 T cell proliferation
GO:0043085 positive regulation of catalytic activity
GO:0050435 beta-amyloid metabolic process
GO:0050673 epithelial cell proliferation
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
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000162736
View Gene Order
ENSBTAG00000004334
Not yet available
Pathways
NETPATH
REACTOME
REACT_198574
Nuclear signaling by ERBB4 pathway
REACT_189085
Disease pathway
REACT_188579
Signaling by ERBB4 pathway
REACT_206066
Extracellular matrix organization pathway
REACT_196589
Constitutive Signaling by NOTCH1 PEST Domain Mutants pathway
REACT_204413
Cell death signalling via NRAGE, NRIF and NADE pathway
REACT_243590
EPH-ephrin mediated repulsion of cells pathway
REACT_199382
Signaling by NOTCH1 pathway
REACT_199384
Activated NOTCH1 Transmits Signal to the Nucleus pathway
REACT_199412
Signaling by NOTCH2 pathway
REACT_199413
Signaling by NOTCH3 pathway
REACT_199410
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant pathway
REACT_199411
NOTCH2 Activation and Transmission of Signal to the Nucleus pathway
REACT_258158
EPH-Ephrin signaling pathway
REACT_199405
Signaling by NOTCH1 in Cancer pathway
REACT_199404
Signaling by NOTCH4 pathway
REACT_199407
Signaling by NOTCH1 HD Domain Mutants in Cancer pathway
REACT_199406
Signaling by NOTCH1 PEST Domain Mutants in Cancer pathway
REACT_199409
FBXW7 Mutants and NOTCH1 in Cancer pathway
REACT_199408
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer pathway
REACT_261444
Axon guidance pathway
REACT_248921
Signalling by NGF pathway
REACT_188576
Developmental Biology pathway
REACT_218614
Regulated proteolysis of p75NTR pathway
REACT_188257
Signal Transduction pathway
REACT_210847
p75 NTR receptor-mediated signalling pathway
REACT_202271
NRIF signals cell death from the nucleus pathway
REACT_231152
Signaling by NOTCH pathway
REACT_196591
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants pathway
REACT_199052
Degradation of the extracellular matrix pathway
KEGG
mmu04330
Notch signaling pathway pathway
mmu05010
Alzheimer's disease pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
NetPath_3
Notch pathway
REACTOME
REACT_13443
Regulated proteolysis of p75NTR pathway
REACT_13643
NRIF signals cell death from the nucleus pathway
REACT_116022
Nuclear signaling by ERBB4 pathway
REACT_115596
Signaling by ERBB4 pathway
REACT_118614
Activated NOTCH1 Transmits Signal to the Nucleus pathway
REACT_118636
Signaling by NOTCH4 pathway
REACT_118862
Signaling by NOTCH3 pathway
REACT_160205
NOTCH2 Activation and Transmission of Signal to the Nucleus pathway
REACT_160243
Constitutive Signaling by NOTCH1 PEST Domain Mutants pathway
REACT_160254
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants pathway
REACT_111045
Developmental Biology pathway
REACT_11061
Signalling by NGF pathway
REACT_160082
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant pathway
REACT_118779
Extracellular matrix organization pathway
REACT_160214
Signaling by NOTCH1 in Cancer pathway
REACT_118572
Degradation of the extracellular matrix pathway
REACT_18266
Axon guidance pathway
REACT_13776
p75 NTR receptor-mediated signalling pathway
REACT_160099
FBXW7 Mutants and NOTCH1 in Cancer pathway
REACT_111102
Signal Transduction pathway
REACT_118721
Signaling by NOTCH2 pathway
REACT_160301
Signaling by NOTCH1 PEST Domain Mutants in Cancer pathway
REACT_160248
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer pathway
REACT_299
Signaling by NOTCH pathway
REACT_13720
Cell death signalling via NRAGE, NRIF and NADE pathway
REACT_228189
EPH-ephrin mediated repulsion of cells pathway
REACT_118859
Signaling by NOTCH1 pathway
REACT_160133
Signaling by NOTCH1 HD Domain Mutants in Cancer pathway
REACT_228170
EPH-Ephrin signaling pathway
REACT_116125
Disease pathway
KEGG
hsa04330
Notch signaling pathway pathway
hsa05010
Alzheimer's disease pathway
INOH
PID NCI
ps1pathway
Presenilin action in Notch and Wnt signaling
p75ntrpathway
p75(NTR)-mediated signaling
syndecan_3_pathway
Syndecan-3-mediated signaling events
notch_pathway
Notch signaling pathway
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.218203
RefSeq NM_021607 XM_006496952
OMIM
CCDS CCDS15507
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca