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    PRSS56 protease, serine, 56 [ Homo sapiens (human) ]

    Gene ID: 646960, updated on 22-May-2013
    Official Symbol
    PRSS56provided by HGNC
    Official Full Name
    protease, serine, 56provided by HGNC
    Primary source
    HGNC:39433
    See related
    Ensembl:ENSG00000237412; MIM:613858; Vega:OTTHUMG00000153326
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MCOP6
    Summary
    This gene encodes a protein that contains a peptidase S1 domain and possesses trypsin-like serine protease activity. The encoded protein may play a role in eye development, and mutations in this gene are a cause of autosomal recessive posterior microphthalmos. [provided by RefSeq, Dec 2011]
    Location :
    2q37.1
    Sequence :
    Chromosome: 2; NC_000002.11 (233385173..233390426)
    See PRSS56 in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene alkaline phosphatase, intestinal Neighboring gene endothelin converting enzyme-like 1 Neighboring gene cholinergic receptor, nicotinic, delta (muscle) Neighboring gene cholinergic receptor, nicotinic, gamma (muscle)

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Biometric and molecular characterization of clinically diagnosed posterior microphthalmos. Nowilaty SR, et al. Am J Ophthalmol, 2013 Feb. PMID 23127749.
    2. Global identification of modular cullin-RING ligase substrates. Emanuele MJ, et al. Cell, 2011 Oct 14. PMID 21963094.
    3. Mutations in a novel serine protease PRSS56 in families with nanophthalmos. Orr A, et al. Mol Vis, 2011. PMID 21850159.
    4. 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.
    5. 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.

    See all (6) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Corneal diameter decreases with decreasing axial length, suggesting posterior microphthalmos and nanophthalmos represent a spectrum of high hyperopia rather than distinct phenotypes. In the Saudi population PRSS56 mutations are the major cause.
      Title: Biometric and molecular characterization of clinically diagnosed posterior microphthalmos.
    2. PRSS56 is a good candidate for the causal gene for nanophthalmos in a Mexican-Canadian family cohort.
      Title: Mutations in a novel serine protease PRSS56 in families with nanophthalmos.
    3. Together, these data suggest that alterations of this serine protease may contribute to a spectrum of human ocular conditions including reduced ocular size and ACG.
      Title: Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice.
    4. Three different mutations in PRSS56, were detected in microphthalmos patients of the Faroese families.
      Title: Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.
    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:571766 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    serine-type endopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    camera-type eye development IMP
    Inferred from Mutant Phenotype
    more info
    		  
    proteolysis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Preferred Names
    serine protease 56
    Names
    serine protease 56
    putative serine protease 56

    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.

    Genomic

    1. NG_031969.1 RefSeqGene

      Range
      5001..10254
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001195129.1 → NP_001182058.1  serine protease 56 precursor

      Status: REVIEWED

      Source sequence(s)
      AC092165
      UniProtKB/Swiss-Prot
      P0CW18
      Related
      ENSP00000473410, OTTHUMP00000272411, ENST00000449534, OTTHUMT00000330741
      Conserved Domains (1) summary
      cd00190
      Location:105 – 335
      Blast Score: 665
      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: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p10 Primary Assembly

      Range
      233385173..233390426
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      225236065..225241318
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018913.1 Alternate CHM1_1.0

      Range
      232757809..232763062
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01002018.1 (40506..45759) None
    genomic AC092165.4 (49530..54783) None
    genomic AMYH01011571.1 (111493..116746) None
    genomic CH471063.1 EAW71002.1
    mRNA BI464671.1 None
    mRNA CN280933.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0CW18.1 GenPept UniProtKB/Swiss-Prot:P0CW18

    Gene LinkOut

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

      Supplemental Content

      Table of contents

      Related information

      • BioProjects
        BioProjects related to a gene
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).

      Links to other resources

      General information

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