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    PRSS27 serine protease 27 [ Homo sapiens (human) ]

    Gene ID: 83886, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PRSS27provided by HGNC
    Official Full Name
    serine protease 27provided by HGNC
    Primary source
    HGNC:HGNC:15475
    See related
    Ensembl:ENSG00000172382 MIM:608018; AllianceGenome:HGNC:15475
    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
    MPN; CAPH2
    Summary
    This gene is located within a large protease gene cluster on chromosome 16. It belongs to the group-1 subfamily of serine proteases. The encoded protein is a secreted tryptic serine protease and is expressed mainly in the pancreas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
    Expression
    Biased expression in esophagus (RPKM 55.3) and skin (RPKM 0.9) See more
    Orthologs
    all
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    Genomic context

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    See PRSS27 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (2712422..2720224, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (2732636..2740438, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2762423..2770225, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene endogenous retrovirus group K13 member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7063 Neighboring gene uncharacterized LOC124903627 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7064 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7065 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:2732882-2733492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2738809-2739397 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2742501-2743319 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2743320-2744137 Neighboring gene potassium channel tetramerization domain containing 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7067 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7066 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7068 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2770495-2771062 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7070 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:2772439-2772608 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2788581-2789158 Neighboring gene SRRM2 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr16:2801519-2802361 and GRCh37_chr16:2802362-2803204 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2803205-2804047 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:2807529-2808728 Neighboring gene serine/arginine repetitive matrix 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2819013-2819715 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2819716-2820419 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2820420-2821122

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Expression Status of Serine Protease 27: A Prognostic Marker for Esophageal Squamous Cell Carcinoma Treated with Preoperative Chemotherapy/Chemoradiotherapy. Kataoka A, et al. Ann Surg Oncol, 2021 Sep. PMID 33452606
    2. Mutational tail loss is an evolutionary mechanism for liberating marapsins and other type I serine proteases from transmembrane anchors. Raman K, et al. J Biol Chem, 2013 Apr 12. PMID 23447538, Free PMC Article
    3. The serine protease marapsin is expressed in stratified squamous epithelia and is up-regulated in the hyperproliferative epidermis of psoriasis and regenerating wounds. Li W, et al. J Biol Chem, 2009 Jan 2. PMID 18948266
    4. Structure and activity of human pancreasin, a novel tryptic serine peptidase expressed primarily by the pancreas. Bhagwandin VJ, et al. J Biol Chem, 2003 Jan 31. PMID 12441343
    5. Paralog knockout profiling identifies DUSP4 and DUSP6 as a digenic dependence in MAPK pathway-driven cancers. Ito T, et al. Nat Genet, 2021 Dec. PMID 34857952

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expression Status of Serine Protease 27: A Prognostic Marker for Esophageal Squamous Cell Carcinoma Treated with Preoperative Chemotherapy/Chemoradiotherapy.
      Title: Expression Status of Serine Protease 27: A Prognostic Marker for Esophageal Squamous Cell Carcinoma Treated with Preoperative Chemotherapy/Chemoradiotherapy.
    2. Mutational tail loss is an evolutionary mechanism for liberating marapsins and other type I serine proteases from transmembrane anchors.
      Title: Mutational tail loss is an evolutionary mechanism for liberating marapsins and other type I serine proteases from transmembrane anchors.
    3. Marapsin's restricted expression, localization, and cytokine-inducible expression suggest a role in the terminal differentiation of keratinocytes in hyperproliferating squamous epithelia.
      Title: The serine protease marapsin is expressed in stratified squamous epithelia and is up-regulated in the hyperproliferative epidermis of psoriasis and regenerating wounds.
    4. structure and activity of the human enzyme, a serine peptidase found in the pancreas
      Title: Structure and activity of human pancreasin, a novel tryptic serine peptidase expressed primarily by the pancreas.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ44546

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    serine protease 27
    Names
    channel-activating protease 2
    marapsin
    pancreasin
    protease, serine 27

    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_001318395.2 → NP_001305324.1  serine protease 27 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which lacks a portion of the N-terminus and is shorter, compared to isoform 1.
      Source sequence(s)
      AY359106, BC036912
      UniProtKB/Swiss-Prot
      Q9BQR3
      Conserved Domains (2) summary
      smart00020
      Location:4 → 170
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:4 → 173
      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 ...

    2. NM_031948.5 → NP_114154.1  serine protease 27 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC034294, BC036912
      Consensus CDS
      CCDS10476.1
      UniProtKB/Swiss-Prot
      Q9BQR3
      Related
      ENSP00000306390.3, ENST00000302641.8
      Conserved Domains (2) summary
      smart00020
      Location:34 → 272
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:36 → 275
      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_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      2712422..2720224 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522689.3 → XP_011520991.1  serine protease 27 isoform X1

      Conserved Domains (2) summary
      smart00020
      Location:4 → 170
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:4 → 173
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      2732636..2740438 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314108.1 → XP_054170083.1  serine protease 27 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BQR3.1 GenPept UniProtKB/Swiss-Prot:Q9BQR3

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