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PRSS53 serine protease 53 [ Homo sapiens (human) ]

Gene ID: 339105, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in skin (RPKM 1.8), spleen (RPKM 1.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
16p11.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (31083437..31088943, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31470865..31476371, complement)
105.20220307 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
  • 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 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

  • 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_2023_10

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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