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    Ncstn nicastrin [ Mus musculus (house mouse) ]

    Gene ID: 59287, updated on 4-Jan-2025

    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, Jan 2025]
    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)
    • Endonuclease-mediated (1) 
    • Targeted (8)  1 citation

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATPase binding  
    enables ATPase binding  
    contributes_to aspartic endopeptidase activity, intramembrane cleaving PubMed 
    contributes_to endopeptidase activity PubMed 
    contributes_to endopeptidase activity PubMed 
    enables growth factor receptor binding  
    enables growth factor receptor binding  
    enables peptidase activity  
    enables protein binding PubMed 
    enables protein-macromolecule adaptor activity  
    enables protein-macromolecule adaptor activity  
    Items 1 - 25 of 37
    Process Evidence Code Pubs
    acts_upstream_of_or_within G protein-coupled dopamine receptor signaling pathway PubMed 
    involved_in Notch receptor processing  
    involved_in Notch receptor processing  
    involved_in Notch receptor processing PubMed 
    involved_in Notch signaling pathway  
    acts_upstream_of_or_within T cell proliferation PubMed 
    acts_upstream_of_or_within adult behavior PubMed 
    acts_upstream_of_or_within amyloid precursor protein biosynthetic process PubMed 
    involved_in amyloid precursor protein catabolic process  
    involved_in amyloid precursor protein catabolic process  
    acts_upstream_of_or_within amyloid precursor protein metabolic process PubMed 
    involved_in amyloid precursor protein metabolic process  
    involved_in amyloid precursor protein metabolic process  
    acts_upstream_of_or_within amyloid-beta formation PubMed 
    involved_in amyloid-beta formation  
    involved_in amyloid-beta formation  
    acts_upstream_of_or_within amyloid-beta metabolic process PubMed 
    acts_upstream_of_or_within cellular response to calcium ion PubMed 
    acts_upstream_of_or_within central nervous system myelination PubMed 
    involved_in cerebellum development  
    acts_upstream_of_or_within epithelial cell proliferation PubMed 
    acts_upstream_of_or_within epithelial cell proliferation PubMed 
    acts_upstream_of_or_within glutamate receptor signaling pathway PubMed 
    acts_upstream_of_or_within learning or memory PubMed 
    involved_in membrane protein ectodomain proteolysis  
    involved_in membrane protein ectodomain proteolysis  
    involved_in membrane protein intracellular domain proteolysis  
    involved_in membrane protein intracellular domain proteolysis  
    acts_upstream_of_or_within myeloid cell homeostasis PubMed 
    acts_upstream_of_or_within neuron apoptotic process PubMed 
    acts_upstream_of_or_within positive regulation of amyloid precursor protein biosynthetic process PubMed 
    involved_in positive regulation of endopeptidase activity  
    involved_in protein processing  
    involved_in protein processing  
    involved_in protein processing  
    acts_upstream_of_or_within regulation of long-term synaptic potentiation PubMed 
    acts_upstream_of_or_within short-term synaptic potentiation PubMed 
    Items 1 - 25 of 37
    Items 1 - 20 of 36
    Component Evidence Code Pubs
    located_in Golgi apparatus PubMed 
    located_in Golgi apparatus  
    located_in Golgi apparatus  
    located_in Golgi membrane PubMed 
    located_in cytoplasmic vesicle membrane  
    located_in early endosome  
    located_in early endosome  
    located_in endoplasmic reticulum PubMed 
    located_in endoplasmic reticulum  
    located_in endoplasmic reticulum  
    located_in endoplasmic reticulum PubMed 
    located_in endoplasmic reticulum membrane PubMed 
    part_of gamma-secretase complex PubMed 
    part_of gamma-secretase complex  
    part_of gamma-secretase complex  
    located_in lysosomal membrane  
    located_in lysosomal membrane  
    located_in lysosome PubMed 
    located_in melanosome  
    located_in membrane PubMed 
    located_in membrane  
    located_in membrane  
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 
    located_in plasma membrane  
    located_in plasma membrane  
    located_in plasma membrane  
    located_in presynaptic membrane  
    is_active_in presynaptic membrane  
    part_of protein-containing complex PubMed 
    part_of protein-containing complex  
    located_in sarcolemma  
    located_in sarcolemma  
    located_in synaptic membrane  
    located_in synaptic vesicle PubMed 
    located_in synaptic vesicle  
    Items 1 - 20 of 36

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
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