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    PRSS16 serine protease 16 [ Homo sapiens (human) ]

    Gene ID: 10279, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PRSS16provided by HGNC
    Official Full Name
    serine protease 16provided by HGNC
    Primary source
    HGNC:HGNC:9480
    See related
    Ensembl:ENSG00000112812 MIM:607169; AllianceGenome:HGNC:9480
    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
    TSSP
    Summary
    This gene encodes a serine protease expressed exclusively in the thymus. It is thought to play a role in the alternative antigen presenting pathway used by cortical thymic epithelial cells during the positive selection of T cells. The gene is found in the large histone gene cluster on chromosome 6, near the major histocompatibility complex (MHC) class I region. A second transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in thyroid (RPKM 6.8), stomach (RPKM 3.4) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PRSS16 in Genome Data Viewer
    Location:
    6p22.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (27247701..27256620)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (27116534..27125453)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (27215480..27224399)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17023 Neighboring gene tRNA-Val (anticodon AAC) 5-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24275 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:27206036-27206536 Neighboring gene tRNA-Ile (anticodon AAT) 5-3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24279 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:27219561-27220081 Neighboring gene CDCA7 pseudogene 1 Neighboring gene tRNA-Ile (anticodon AAT) 9-1

    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. Polymorphisms in the gene encoding thymus-specific serine protease in the extended HLA complex: a potential candidate gene for autoimmune and HLA-associated diseases. Lie BA, et al. Genes Immun, 2002 Aug. PMID 12140752
    2. Alternatively spliced transcripts of the thymus-specific protease PRSS16 are differentially expressed in human thymus. Luther C, et al. Genes Immun, 2005 Feb. PMID 15592422
    3. A transcription map of the major histocompatibility complex (MHC) class I region. Gruen JR, et al. Genomics, 1996 Aug 15. PMID 8812418
    4. No associations found between the genes situated at 6p22.1, HIST1H2BJ, PRSS16, and PGBD1 in Japanese patients diagnosed with schizophrenia. Kitazawa M, et al. Am J Med Genet B Neuropsychiatr Genet, 2012 Jun. PMID 22488895
    5. Thymic-Specific Serine Protease Limits Central Tolerance and Exacerbates Experimental Autoimmune Encephalomyelitis. Serre L, et al. J Immunol, 2017 Dec 1. PMID 29061767

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. the level of TSSP expression by thymic dendritic cells may modify the risk factors for multiple sclerosis conferred by some MHC class II haplotypes
      Title: Thymic-Specific Serine Protease Limits Central Tolerance and Exacerbates Experimental Autoimmune Encephalomyelitis.
    2. The genes HIST1H2BJ, PRSS16, and PGBD1 were not associated with Japanese patients with schizophrenia.
      Title: No associations found between the genes situated at 6p22.1, HIST1H2BJ, PRSS16, and PGBD1 in Japanese patients diagnosed with schizophrenia.
    3. ZNF804a regulates expression of the schizophrenia-associated genes PRSS16, COMT, PDE4B, and DRD2
      Title: ZNF804a regulates expression of the schizophrenia-associated genes PRSS16, COMT, PDE4B, and DRD2.
    4. our results identify PRSS16 and BTN3A2, two genes thought to play important roles in regulating the immune response, as potentially novel susceptibility genes for Type I diabetes.
      Title: Reproducible association with type 1 diabetes in the extended class I region of the major histocompatibility complex.
    5. Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Common variants on chromosome 6p22.1 are associated with schizophrenia.
    6. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Reproducible association with type 1 diabetes in the extended class I region of the major histocompatibility complex.
    7. The gene encoding thymus-specific serine protease (PRSS16) maps to the extended HLA complex, which harbours several genes predisposing for autoimmune diseases.
      Title: Polymorphisms in the gene encoding thymus-specific serine protease in the extended HLA complex: a potential candidate gene for autoimmune and HLA-associated diseases.
    8. data suggest that it is unlikely that polymorphisms within the PRSS16 gene are involved in the predisposition to diabetes type 1
      Title: Association analysis in type 1 diabetes of the PRSS16 gene encoding a thymus-specific serine protease.
    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

    EBI GWAS Catalog

    Description
    Common variants conferring risk of schizophrenia.
    EBI GWAS Catalog
    Common variants on chromosome 6p22.1 are associated with schizophrenia.
    EBI GWAS Catalog

    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

    • FLJ36271, FLJ40714, FLJ44172

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dipeptidyl-peptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables serine-type exopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables serine-type peptidase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein catabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    thymus-specific serine protease
    Names
    protease, serine 16
    protease, serine, 16 (thymus)
    thymus specific serine peptidase

    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_005865.4 → NP_005856.1  thymus-specific serine protease

      See identical proteins and their annotated locations for NP_005856.1

      Status: REVIEWED

      Source sequence(s)
      AF052514, AK093590, AK314037, AL021808, BG119060
      Consensus CDS
      CCDS4623.1
      UniProtKB/Swiss-Prot
      O75416, Q9NQE7
      Related
      ENSP00000230582.3, ENST00000230582.8
      Conserved Domains (1) summary
      pfam05577
      Location:64 → 494
      Peptidase_S28; Serine carboxypeptidase S28

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      27247701..27256620
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010162.3 → XP_016865651.1  thymus-specific serine protease isoform X2

    2. XM_017010163.3 → XP_016865652.1  thymus-specific serine protease isoform X3

    3. XM_017010164.3 → XP_016865653.1  thymus-specific serine protease isoform X4

    4. XM_017010161.3 → XP_016865650.1  thymus-specific serine protease isoform X1

    5. XM_017010165.2 → XP_016865654.1  thymus-specific serine protease isoform X5

      UniProtKB/TrEMBL
      B3KUT9, F2Z2N5
      Related
      ENSP00000404349.2, ENST00000421826.6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      27116534..27125453
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354019.1 → XP_054209994.1  thymus-specific serine protease isoform X2

    2. XM_054354020.1 → XP_054209995.1  thymus-specific serine protease isoform X3

    3. XM_054354021.1 → XP_054209996.1  thymus-specific serine protease isoform X4

    4. XM_054354018.1 → XP_054209993.1  thymus-specific serine protease isoform X1

    5. XM_054354022.1 → XP_054209997.1  thymus-specific serine protease isoform X5

      UniProtKB/TrEMBL
      F2Z2N5
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NQE7.2 GenPept UniProtKB/Swiss-Prot:Q9NQE7

    Gene LinkOut

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

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