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    PRSS53 serine protease 53 [ Homo sapiens (human) ]

    Gene ID: 339105, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PRSS53provided by HGNC
    Official Full Name
    serine protease 53provided by HGNC
    Primary source
    HGNC:HGNC:34407
    See related
    Ensembl:ENSG00000151006 MIM:610561; AllianceGenome:HGNC:34407
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    POL3S; UNQ308
    Summary
    Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in skin (RPKM 1.8), spleen (RPKM 1.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PRSS53 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (31083437..31088943, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31470865..31476371, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (31094758..31100264, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31044203-31044714 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:31045227-31045737 Neighboring gene syntaxin 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31074971-31075598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31075599-31076226 Neighboring gene zinc finger protein 668 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:31084437-31085237 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:31085443-31085976 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:31085977-31086509 Neighboring gene zinc finger protein 646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31099941-31100441 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31104343-31105051 Neighboring gene zinc finger protein ENSP00000375192-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10746 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10748 Neighboring gene vitamin K epoxide reductase complex subunit 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. Identification and characterization of human polyserase-3, a novel protein with tandem serine-protease domains in the same polypeptide chain. Cal S, et al. BMC Biochem, 2006 Mar 27. PMID 16566820, Free PMC Article
    2. Genome-wide association analysis identifies three psoriasis susceptibility loci. Stuart PE, et al. Nat Genet, 2010 Nov. PMID 20953189, Free PMC Article
    3. Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. Pankratz N, et al. Ann Neurol, 2012 Mar. PMID 22451204, Free PMC Article
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Comparative analysis of polyserase-3 with the two human polyserases described to date, revealed that this novel polyprotein is more closely related to polyserase-2 than to polyserase-1.
      Title: Identification and characterization of human polyserase-3, a novel protein with tandem serine-protease domains in the same polypeptide chain.
    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
    Genome-wide association analysis identifies three psoriasis susceptibility loci.
    EBI GWAS Catalog
    Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
    EBI GWAS Catalog

    Variation

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    See Variation Viewer (GRCh37.p13)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ00289

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    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
    		  

    General protein information

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    Preferred Names
    serine protease 53
    Names
    EDTP308
    polyserase-3
    polyserine protease 3
    protease, serine 53
    NP_001034592.1
    XP_011544118.1
    XP_011544119.1
    XP_011544120.1
    XP_011544121.1
    XP_011544122.1
    XP_054236185.1
    XP_054236186.1
    XP_054236187.1
    XP_054236188.1
    XP_054236189.1

    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_001039503.3 → NP_001034592.1  serine protease 53 precursor

      See identical proteins and their annotated locations for NP_001034592.1

      Status: VALIDATED

      Source sequence(s)
      AC135050
      Consensus CDS
      CCDS42153.1
      UniProtKB/Swiss-Prot
      Q2L4Q9
      Related
      ENSP00000280606.6, ENST00000280606.7
      Conserved Domains (2) summary
      smart00020
      Location:43 → 267
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:42 → 269
      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
      31083437..31088943 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545819.3 → XP_011544121.1  serine protease 53 isoform X4

      Conserved Domains (3) summary
      smart00020
      Location:43 → 267
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:42 → 269
      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 ...
      cl21584
      Location:312 → 465
      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. XM_011545820.3 → XP_011544122.1  serine protease 53 isoform X5

      Conserved Domains (2) summary
      smart00020
      Location:43 → 267
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:42 → 269
      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 ...

    3. XM_011545816.3 → XP_011544118.1  serine protease 53 isoform X1

      Conserved Domains (3) summary
      smart00020
      Location:43 → 314
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:42 → 316
      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 ...
      cl21584
      Location:359 → 512
      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 ...

    4. XM_011545818.4 → XP_011544120.1  serine protease 53 isoform X3

      Conserved Domains (2) summary
      smart00020
      Location:43 → 314
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:42 → 316
      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 ...

    5. XM_011545817.3 → XP_011544119.1  serine protease 53 isoform X2

      Conserved Domains (2) summary
      smart00020
      Location:43 → 314
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:42 → 316
      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
      31470865..31476371 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380213.1 → XP_054236188.1  serine protease 53 isoform X4

    2. XM_054380214.1 → XP_054236189.1  serine protease 53 isoform X5

    3. XM_054380210.1 → XP_054236185.1  serine protease 53 isoform X1

    4. XM_054380212.1 → XP_054236187.1  serine protease 53 isoform X3

    5. XM_054380211.1 → XP_054236186.1  serine protease 53 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2L4Q9.1 GenPept UniProtKB/Swiss-Prot:Q2L4Q9

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