Aliases for PRSS53 Gene

Aliases for PRSS53 Gene

  • Serine Protease 53 2 3 4 5
  • Polyserine Protease 3 3 4
  • Protease, Serine 53 2 3
  • Polyserase-3 3 4
  • Polyserase 3 2
  • EC 3.4.21.- 4
  • EDTP308 3
  • UNQ308 3
  • POL3S 3

External Ids for PRSS53 Gene

Previous GeneCards Identifiers for PRSS53 Gene

  • GC16M031094
  • GC16M028656

Summaries for PRSS53 Gene

GeneCards Summary for PRSS53 Gene

PRSS53 (Serine Protease 53) is a Protein Coding gene. Diseases associated with PRSS53 include Episodic Kinesigenic Dyskinesia 1. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is PRSS36.

UniProtKB/Swiss-Prot Summary for PRSS53 Gene

  • In vitro can degrade the fibrinogen alpha chain of as well as pro-urokinase-type plasminogen activator.

Additional gene information for PRSS53 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PRSS53 Gene

Genomics for PRSS53 Gene

GeneHancer (GH) Regulatory Elements for PRSS53 Gene

Promoters and enhancers for PRSS53 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRSS53 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PRSS53

Genomic Locations for PRSS53 Gene

Genomic Locations for PRSS53 Gene
chr16:31,083,424-31,090,035
(GRCh38/hg38)
Size:
6,612 bases
Orientation:
Minus strand
chr16:31,094,745-31,100,949
(GRCh37/hg19)
Size:
6,205 bases
Orientation:
Minus strand

Genomic View for PRSS53 Gene

Genes around PRSS53 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRSS53 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRSS53 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRSS53 Gene

Proteins for PRSS53 Gene

  • Protein details for PRSS53 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2L4Q9-PRS53_HUMAN
    Recommended name:
    Serine protease 53
    Protein Accession:
    Q2L4Q9

    Protein attributes for PRSS53 Gene

    Size:
    553 amino acids
    Molecular mass:
    58410 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PRSS53 Gene

Post-translational modifications for PRSS53 Gene

No Post-translational modifications

Other Protein References for PRSS53 Gene

No data available for DME Specific Peptides for PRSS53 Gene

Domains & Families for PRSS53 Gene

Gene Families for PRSS53 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted secreted proteins

Protein Domains for PRSS53 Gene

Blocks:
  • Serine protease, trypsin family
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PRSS53 Gene

GenScript: Design optimal peptide antigens:
  • Polyserine protease 3 (PRS53_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q2L4Q9

UniProtKB/Swiss-Prot:

PRS53_HUMAN :
  • Belongs to the peptidase S1 family.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with PRSS53: view

Function for PRSS53 Gene

Molecular function for PRSS53 Gene

UniProtKB/Swiss-Prot Function:
In vitro can degrade the fibrinogen alpha chain of as well as pro-urokinase-type plasminogen activator.

Enzyme Numbers (IUBMB) for PRSS53 Gene

Phenotypes From GWAS Catalog for PRSS53 Gene

Gene Ontology (GO) - Molecular Function for PRSS53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IBA 21873635
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PRSS53: view
genes like me logo Genes that share phenotypes with PRSS53: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PRSS53

CRISPR Products

miRNA for PRSS53 Gene

miRTarBase miRNAs that target PRSS53

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PRSS53 Gene

Localization for PRSS53 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRSS53 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRSS53 gene
Compartment Confidence
extracellular 4
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1
cytosol 0
lysosome 0

Gene Ontology (GO) - Cellular Components for PRSS53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with PRSS53: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PRSS53 Gene

Pathways & Interactions for PRSS53 Gene

PathCards logo

SuperPathways for PRSS53 Gene

No Data Available

Interacting Proteins for PRSS53 Gene

;

Gene Ontology (GO) - Biological Process for PRSS53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with PRSS53: view

No data available for Pathways by source and SIGNOR curated interactions for PRSS53 Gene

Drugs & Compounds for PRSS53 Gene

(1) Drugs for PRSS53 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Warfarin Approved Pharma 593
genes like me logo Genes that share compounds with PRSS53: view

Transcripts for PRSS53 Gene

mRNA/cDNA for PRSS53 Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRSS53 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1:
SP2:
SP3:

Relevant External Links for PRSS53 Gene

GeneLoc Exon Structure for
PRSS53

Expression for PRSS53 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PRSS53 Gene

Protein differential expression in normal tissues from HIPED for PRSS53 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PRSS53 Gene



Protein tissue co-expression partners for PRSS53 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PRSS53

SOURCE GeneReport for Unigene cluster for PRSS53 Gene:

Hs.569575

mRNA Expression by UniProt/SwissProt for PRSS53 Gene:

Q2L4Q9-PRS53_HUMAN
Tissue specificity: Predominantly detected in testis, liver, heart and ovary, as well as in several tumor cell lines.
genes like me logo Genes that share expression patterns with PRSS53: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PRSS53 Gene

Orthologs for PRSS53 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PRSS53 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRSS53 31 30
  • 99.28 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PRSS53 31 30
  • 87.4 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PRSS53 31 30
  • 85.67 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Prss53 17 31 30
  • 81.46 (n)
rat
(Rattus norvegicus)
Mammalia Prss53 30
  • 80.45 (n)
oppossum
(Monodelphis domestica)
Mammalia PRSS53 31
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRSS53 31
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRSS53 31
  • 38 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii BX571714.1 31
  • 27 (a)
ManyToMany
zgc:92313 31
  • 26 (a)
ManyToMany
Species where no ortholog for PRSS53 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PRSS53 Gene

ENSEMBL:
Gene Tree for PRSS53 (if available)
TreeFam:
Gene Tree for PRSS53 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PRSS53: view image

Paralogs for PRSS53 Gene

Paralogs for PRSS53 Gene

(18) SIMAP similar genes for PRSS53 Gene using alignment to 1 proteins:

  • PRS53_HUMAN
genes like me logo Genes that share paralogs with PRSS53: view

Variants for PRSS53 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PRSS53 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs201075024 Benign: Vitamin K-Dependent Clotting Factors 31,087,679(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PRSS53 Gene

Structural Variations from Database of Genomic Variants (DGV) for PRSS53 Gene

Variant ID Type Subtype PubMed ID
esv993244 CNV deletion 20482838
nsv457483 CNV loss 19166990
nsv571820 CNV loss 21841781
nsv833193 CNV gain+loss 17160897

Variation tolerance for PRSS53 Gene

Residual Variation Intolerance Score: 87.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.30; 95.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRSS53 Gene

Human Gene Mutation Database (HGMD)
PRSS53
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRSS53

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRSS53 Gene

Disorders for PRSS53 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PRSS53 Gene - From: DISEASES

Disorder Aliases PubMed IDs
episodic kinesigenic dyskinesia 1
  • ekd1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PRSS53

genes like me logo Genes that share disorders with PRSS53: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PRSS53 Gene

Publications for PRSS53 Gene

  1. Identification and characterization of human polyserase-3, a novel protein with tandem serine-protease domains in the same polypeptide chain. (PMID: 16566820) Cal S … López-Otín C (BMC biochemistry 2006) 2 3 4 23 54
  2. Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. (PMID: 22451204) Pankratz N … PD GWAS Consortium (Annals of neurology 2012) 3 41 54
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54
  4. Genome-wide association analysis identifies three psoriasis susceptibility loci. (PMID: 20953189) Stuart PE … Elder JT (Nature genetics 2010) 3 54
  5. Expanding the complexity of the human degradome: polyserases and their tandem serine protease domains. (PMID: 17485402) Cal S … Lopez-Otin C (Frontiers in bioscience : a journal and virtual library 2007) 23 54

Products for PRSS53 Gene

Sources for PRSS53 Gene