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    Prss56 serine protease 56 [ Mus musculus (house mouse) ]

    Gene ID: 69453, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Prss56provided by MGI
    Official Full Name
    serine protease 56provided by MGI
    Primary source
    MGI:MGI:1916703
    See related
    Ensembl:ENSMUSG00000036480 AllianceGenome:MGI:1916703
    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
    1700027L20Rik
    Summary
    Enables serine-type endopeptidase activity. Involved in proteolysis. Acts upstream of or within camera-type eye development. Located in endoplasmic reticulum. Is expressed in nervous system and visual system. Used to study isolated microphthalmia 6. Human ortholog(s) of this gene implicated in isolated microphthalmia 6. Orthologous to human PRSS56 (serine protease 56). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis adult (RPKM 9.7), frontal lobe adult (RPKM 1.3) and 1 other tissue See more
    Orthologs
    human all
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    Genomic context

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    See Prss56 in Genome Data Viewer
    Location:
    1 C5; 1 44.07 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (87111002..87116127)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (87183102..87188405)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 51638 Neighboring gene endothelin converting enzyme-like 1 Neighboring gene predicted gene, 33292 Neighboring gene STARR-seq mESC enhancer starr_01605 Neighboring gene cholinergic receptor, nicotinic, delta polypeptide Neighboring gene cholinergic receptor, nicotinic, gamma polypeptide

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Mutations in a novel serine protease PRSS56 in families with nanophthalmos. Orr A, et al. Mol Vis, 2011. PMID 21850159, Free PMC Article
    2. Gene profiling of postnatal Mfrprd6 mutant eyes reveals differential accumulation of Prss56, visual cycle and phototransduction mRNAs. Soundararajan R, et al. PLoS One, 2014. PMID 25357075, Free PMC Article
    3. Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease. Gal A, et al. Am J Hum Genet, 2011 Mar 11. PMID 21397065, Free PMC Article
    4. HB-EGF regulates Prss56 expression during mouse decidualization via EGFR/ERK/EGR2 signaling pathway. Liu J, et al. J Endocrinol, 2017 Sep. PMID 28611210
    5. Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice. Nair KS, et al. Nat Genet, 2011 Jun. PMID 21532570, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of MFRP and the secreted serine proteases PRSS56 and ADAMTS19 as part of a molecular network involved in ocular growth regulation.
      Title: Identification of MFRP and the secreted serine proteases PRSS56 and ADAMTS19 as part of a molecular network involved in ocular growth regulation.
    2. Loss of PRSS56 function leads to ocular angle defects and increased susceptibility to high intraocular pressure.
      Title: Loss of PRSS56 function leads to ocular angle defects and increased susceptibility to high intraocular pressure.
    3. Persistent activity of PRSS56 is required during distinct developmental stages spanning the pre- and post-eye opening periods to ensure optimal ocular growth.Prss56 expression is restricted to a subset of Muller glia following retinal cell differentiation.
      Title: Müller glia-derived PRSS56 is required to sustain ocular axial growth and prevent refractive error.
    4. HB-EGF stimulates Prss56 expression via EGFR-ERK pathway.
      Title: HB-EGF regulates Prss56 expression during mouse decidualization via EGFR/ERK/EGR2 signaling pathway.
    5. Study establishes the Prss56Cre line as an efficient and promising new tool to study multiple aspects of adult neurogenesis in the mouse.
      Title: Prss56, a novel marker of adult neurogenesis in the mouse brain.
    6. Transcripts of Prss56, a gene associated with angle-closure glaucoma, posterior microphthalmia and myopia, were increased in Mfrprd6 eyes by 17-fold.
      Title: Gene profiling of postnatal Mfrprd6 mutant eyes reveals differential accumulation of Prss56, visual cycle and phototransduction mRNAs.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables serine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in blood coagulation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within camera-type eye development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in camera-type eye development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in proteolysis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    serine protease 56
    Names
    protease, serine 56

    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_027084.2 → NP_081360.1  serine protease 56 precursor

      See identical proteins and their annotated locations for NP_081360.1

      Status: VALIDATED

      Source sequence(s)
      AC102611, D18648, JF323950, JF698684
      Consensus CDS
      CCDS59538.1
      UniProtKB/Swiss-Prot
      F2YMG0, Q9CVU9
      Related
      ENSMUSP00000138773.2, ENSMUST00000044533.9
      Conserved Domains (2) summary
      smart00020
      Location:108 → 335
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:109 → 339
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

    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
      87111002..87116127
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036153496.1 → XP_036009389.1  serine protease 56 isoform X5

      Conserved Domains (1) summary
      smart00020
      Location:109 → 235
      Tryp_SPc; Trypsin-like serine protease

    2. XM_006529858.3 → XP_006529921.1  serine protease 56 isoform X1

      Conserved Domains (1) summary
      smart00020
      Location:109 → 336
      Tryp_SPc; Trypsin-like serine protease

    3. XM_006529859.3 → XP_006529922.1  serine protease 56 isoform X2

      Conserved Domains (1) summary
      smart00020
      Location:90 → 317
      Tryp_SPc; Trypsin-like serine protease

    4. XM_036153492.1 → XP_036009385.1  serine protease 56 isoform X3

      Conserved Domains (1) summary
      smart00020
      Location:54 → 281
      Tryp_SPc; Trypsin-like serine protease

    5. XM_036153495.1 → XP_036009388.1  serine protease 56 isoform X4

      Conserved Domains (1) summary
      smart00020
      Location:53 → 280
      Tryp_SPc; Trypsin-like serine protease
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    F2YMG0.1 GenPept UniProtKB/Swiss-Prot:F2YMG0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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