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Ncstn nicastrin [ Mus musculus (house mouse) ]

Gene ID: 59287, updated on 8-Feb-2024

Summary

Official Symbol
Ncstnprovided by MGI
Official Full Name
nicastrinprovided by MGI
Primary source
MGI:MGI:1891700
See related
Ensembl:ENSMUSG00000003458 AllianceGenome:MGI:1891700
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Nct; Aph2; D1Dau13e; Kiaa0253; mKIAA0253; 9430068N19Rik
Summary
Contributes to aspartic endopeptidase activity, intramembrane cleaving. Acts upstream of or within several processes, including amyloid precursor protein metabolic process; positive regulation of amyloid precursor protein biosynthetic process; and regulation of synaptic plasticity. Located in several cellular components, including Golgi apparatus; lysosome; and synaptic vesicle. Part of gamma-secretase complex. Is expressed in several structures, including brain and genitourinary system. Used to study chronic myeloid leukemia; schizophrenia; and urinary bladder cancer. Human ortholog(s) of this gene implicated in Alzheimer's disease; hidradenitis suppurativa; and schizophrenia. Orthologous to human NCSTN (nicastrin). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in genital fat pad adult (RPKM 56.1), large intestine adult (RPKM 48.9) and 28 other tissues See more
Orthologs
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Genomic context

See Ncstn in Genome Data Viewer
Location:
1 H3; 1 79.54 cM
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (171893580..171910356, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (172066013..172082789, complement)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene VANGL planar cell polarity 2 Neighboring gene VISTA enhancer mm1677 Neighboring gene STARR-positive B cell enhancer ABC_E9498 Neighboring gene STARR-seq mESC enhancer starr_03049 Neighboring gene nescient helix loop helix 1 Neighboring gene coatomer protein complex subunit alpha Neighboring gene peroxisomal biogenesis factor 19 Neighboring gene STARR-positive B cell enhancer ABC_E5851 Neighboring gene translocase of inner mitochondrial membrane 23 homolog pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (8)  1 citation
  • Endonuclease-mediated (1) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATPase binding ISO
Inferred from Sequence Orthology
more info
 
contributes_to aspartic endopeptidase activity, intramembrane cleaving IGI
Inferred from Genetic Interaction
more info
PubMed 
contributes_to endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables growth factor receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables peptidase activity ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-macromolecule adaptor activity ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in Notch receptor processing IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in Notch receptor processing ISO
Inferred from Sequence Orthology
more info
 
involved_in Notch receptor processing NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within T cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within adult behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within amyloid precursor protein biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in amyloid precursor protein catabolic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within amyloid precursor protein metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in amyloid precursor protein metabolic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within amyloid-beta formation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in amyloid-beta formation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within amyloid-beta metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cellular response to calcium ion IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within central nervous system myelination IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within dopamine receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within epithelial cell proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within epithelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within glutamate receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within learning or memory IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in membrane protein ectodomain proteolysis ISO
Inferred from Sequence Orthology
more info
 
involved_in membrane protein intracellular domain proteolysis ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within myeloid cell homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within positive regulation of amyloid precursor protein biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of catalytic activity ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of endopeptidase activity ISO
Inferred from Sequence Orthology
more info
 
involved_in protein processing IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein processing ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within regulation of long-term synaptic potentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within short-term synaptic potentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
 
located_in Golgi membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in early endosome ISO
Inferred from Sequence Orthology
more info
 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
located_in endoplasmic reticulum NAS
Non-traceable Author Statement
more info
PubMed 
located_in endoplasmic reticulum membrane NAS
Non-traceable Author Statement
more info
PubMed 
part_of gamma-secretase complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of gamma-secretase complex ISO
Inferred from Sequence Orthology
more info
 
located_in lysosomal membrane ISO
Inferred from Sequence Orthology
more info
 
located_in lysosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
is_active_in presynaptic membrane ISO
Inferred from Sequence Orthology
more info
 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
 
located_in sarcolemma ISO
Inferred from Sequence Orthology
more info
 
located_in synaptic membrane ISO
Inferred from Sequence Orthology
more info
 
located_in synaptic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
located_in synaptic vesicle ISO
Inferred from Sequence Orthology
more info
 

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_021607.3NP_067620.3  nicastrin precursor

    See identical proteins and their annotated locations for NP_067620.3

    Status: VALIDATED

    Source sequence(s)
    AK033314, BF714603, CD549803
    Consensus CDS
    CCDS15507.1
    UniProtKB/Swiss-Prot
    E9QLZ6, P57716, Q8VE20
    UniProtKB/TrEMBL
    Q3T9E5, Q3TD54
    Related
    ENSMUSP00000003550.5, ENSMUST00000003550.11
    Conserved Domains (1) summary
    cd03881
    Location:174481
    M28_Nicastrin; M28 Zn-Peptidase Nicastrin, a main component of gamma-secretase complex

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    171893580..171910356 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006496952.4XP_006497015.1  nicastrin isoform X1

    UniProtKB/TrEMBL
    Q3T9E5
    Conserved Domains (1) summary
    cd03881
    Location:42644
    M28_Nicastrin; M28 Zn-peptidase nicastrin, a main component of gamma-secretase complex
  2. XM_017321872.3XP_017177361.1  nicastrin isoform X2

    Conserved Domains (1) summary
    cl14876
    Location:1440
    Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

RNA

  1. XR_373613.3 RNA Sequence

    Related
    ENSMUST00000140643.8