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    Cst3 cystatin C [ Mus musculus (house mouse) ]

    Gene ID: 13010, updated on 27-Nov-2024

    Summary

    Official Symbol
    Cst3provided by MGI
    Official Full Name
    cystatin Cprovided by MGI
    Primary source
    MGI:MGI:102519
    See related
    Ensembl:ENSMUSG00000027447 AllianceGenome:MGI:102519
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    CysC
    Summary
    The protein encoded by this gene is a cysteine protease inhibitor involved in neurodegenerative and cardiovascular processes. The encoded protein inhibits aggregation of beta-amyloid protein, a hallmark of Alzheimer's disease, so it may be useful as a therapeutic. This protein also may be a biomarker for atherosclerosis. [provided by RefSeq, Aug 2015]
    Expression
    Ubiquitous expression in cortex adult (RPKM 1074.3), frontal lobe adult (RPKM 1072.7) and 28 other tissues See more
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    Genomic context

    See Cst3 in Genome Data Viewer
    Location:
    2 G3; 2 73.6 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (148713642..148717432, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (148871722..148875512, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene cystatin 9 Neighboring gene cystatin domain containing 2 Neighboring gene STARR-seq mESC enhancer starr_05979 Neighboring gene STARR-seq mESC enhancer starr_05982 Neighboring gene predicted gene, 54123 Neighboring gene STARR-seq mESC enhancer starr_05983 Neighboring gene predicted gene 1330

    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 (2) 
    • Targeted (4)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables amyloid-beta binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables cysteine-type endopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cysteine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables cysteine-type endopeptidase inhibitor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables endopeptidase inhibitor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables peptidase inhibitor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protease binding ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in axon ISO
    Inferred from Sequence Orthology
    more info
     
    located_in basement membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell projection ISO
    Inferred from Sequence Orthology
    more info
     
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in contractile muscle fiber ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular region ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extracellular space HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    located_in multivesicular body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nuclear membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in vesicle ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    cystatin-C
    Names
    cystatin-3

    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_009976.4NP_034106.2  cystatin-C precursor

      See identical proteins and their annotated locations for NP_034106.2

      Status: REVIEWED

      Source sequence(s)
      AI835804, AK002438, CK621009
      Consensus CDS
      CCDS16852.1
      UniProtKB/Swiss-Prot
      P21460, Q544Y0
      UniProtKB/TrEMBL
      Q9EPX9
      Related
      ENSMUSP00000028938.7, ENSMUST00000028938.7
      Conserved Domains (1) summary
      smart00043
      Location:28138
      CY; Cystatin-like domain

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      148713642..148717432 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)