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    Serpini1 serine (or cysteine) peptidase inhibitor, clade I, member 1 [ Mus musculus (house mouse) ]

    Gene ID: 20713, updated on 9-Dec-2024

    Summary

    Official Symbol
    Serpini1provided by MGI
    Official Full Name
    serine (or cysteine) peptidase inhibitor, clade I, member 1provided by MGI
    Primary source
    MGI:MGI:1194506
    See related
    Ensembl:ENSMUSG00000027834 AllianceGenome:MGI:1194506
    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
    Ns; PI12; PI-12; Spi17
    Summary
    Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity and positive regulation of neuron projection development. Located in neuronal cell body and secretory granule lumen. Is expressed in several structures, including enteric nervous system; genitourinary system; intestine; retina; and telencephalon. Used to study familial encephalopathy with neuroserpin inclusion bodies. Human ortholog(s) of this gene implicated in familial encephalopathy with neuroserpin inclusion bodies. Orthologous to human SERPINI1 (serpin family I member 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in frontal lobe adult (RPKM 50.2), cortex adult (RPKM 38.8) and 5 other tissues See more
    Orthologs
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    Genomic context

    See Serpini1 in Genome Data Viewer
    Location:
    3 E3; 3 33.76 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (75464800..75549830)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (75557493..75642523)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene WD repeat domain 49 Neighboring gene predicted gene, 17836 Neighboring gene programmed cell death 10 Neighboring gene STARR-positive B cell enhancer ABC_E2071 Neighboring gene STARR-seq mESC enhancer starr_07971 Neighboring gene pluripotency associated transcript 10 Neighboring gene predicted gene, 25846

    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 (1)  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 serine-type endopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables serine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables serine-type endopeptidase inhibitor activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in negative regulation of endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neuron projection development ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasmic vesicle lumen 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 neuronal cell body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in perikaryon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in secretory granule lumen IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    neuroserpin
    Names
    peptidase inhibitor 12
    protease inhibitor 17
    serine protease inhibitor 17
    serpin I1

    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_001357514.1NP_001344443.1  neuroserpin isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC140430
      Conserved Domains (1) summary
      cd02048
      Location:23409
      neuroserpin; Neuroserpin is a inhibitory member of the SERine Proteinase INhibitor (serpin) family that reacts preferentially with tissue-type plasminogen activator (tPA). It is located in neurons in regions of the brain where tPA is also found, suggesting that ...
    2. NM_009250.3NP_033276.1  neuroserpin isoform 1 precursor

      See identical proteins and their annotated locations for NP_033276.1

      Status: VALIDATED

      Source sequence(s)
      AC140430, AK032152
      Consensus CDS
      CCDS17415.1
      UniProtKB/Swiss-Prot
      O35684, Q543F7, Q922U6
      Related
      ENSMUSP00000029423.9, ENSMUST00000029423.9
      Conserved Domains (1) summary
      cd02048
      Location:23410
      neuroserpin; Neuroserpin is a inhibitory member of the SERine Proteinase INhibitor (serpin) family that reacts preferentially with tissue-type plasminogen activator (tPA). It is located in neurons in regions of the brain where tPA is also found, suggesting that ...

    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_000069.7 Reference GRCm39 C57BL/6J

      Range
      75464800..75549830
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)