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    Stfa1 stefin A1 [ Mus musculus (house mouse) ]

    Gene ID: 20861, updated on 8-Feb-2024

    Summary

    Official Symbol
    Stfa1provided by MGI
    Official Full Name
    stefin A1provided by MGI
    Primary source
    MGI:MGI:106198
    See related
    Ensembl:ENSMUSG00000071562 AllianceGenome:MGI:106198
    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
    Stf1; Stf3; Stf-3; Stfa3; Stefin-3
    Summary
    Enables endopeptidase inhibitor activity. Acts upstream of or within negative regulation of endopeptidase activity. Located in cytoplasm. Human ortholog(s) of this gene implicated in peeling skin syndrome. Orthologous to human CSTA (cystatin A). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in liver E18 (RPKM 427.9), liver E14 (RPKM 91.5) and 1 other tissue See more
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    Genomic context

    See Stfa1 in Genome Data Viewer
    Location:
    16 B3; 16 25.45 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (36097510..36105733)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (36277148..36285371)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_40762 Neighboring gene cystatin A family member 2 Neighboring gene predicted gene, 24569 Neighboring gene cystatin domain containing 3 Neighboring gene predicted gene, 24437

    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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1) 
    • Endonuclease-mediated (2) 

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cysteine-type endopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cysteine-type endopeptidase inhibitor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables endopeptidase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protease binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in cell-cell adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in keratinocyte differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of peptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of proteolysis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in peptide cross-linking ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in cornified envelope ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    part_of peptidase inhibitor complex 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_001082543.1NP_001076012.1  stefin-1

      See identical proteins and their annotated locations for NP_001076012.1

      Status: VALIDATED

      Source sequence(s)
      BG074171, BY113926
      Consensus CDS
      CCDS37331.1
      UniProtKB/Swiss-Prot
      P35175
      UniProtKB/TrEMBL
      Q8CGL5
      Related
      ENSMUSP00000156337.2, ENSMUST00000232150.2
      Conserved Domains (1) summary
      pfam00031
      Location:491
      Cystatin; Cystatin 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_000082.7 Reference GRCm39 C57BL/6J

      Range
      36097510..36105733
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)