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PRSS16 serine protease 16 [ Homo sapiens (human) ]

Gene ID: 10279, updated on 3-Apr-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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Location:
6p22.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (27247701..27256620)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (27116534..27125453)
105.20220307 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
  • 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. 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
  2. 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
  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_2023_10

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

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