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Aliases for PRSS57 Gene

Aliases for PRSS57 Gene

  • Serine Protease 57 2 3 3 5
  • Serine Protease 1-Like Protein 1 3 4
  • Neutrophil Serine Protease 4 3 4
  • Protease, Serine 57 2 3
  • PRSSL1 3 4
  • NSP4 3 4
  • Protease, Serine-Like 1 2
  • EC 3.4.21.- 4
  • UNQ782 3

External Ids for PRSS57 Gene

Previous HGNC Symbols for PRSS57 Gene

  • PRSSL1

Summaries for PRSS57 Gene

Entrez Gene Summary for PRSS57 Gene

  • This gene encodes an arginine-specific serine protease and member of the peptidase S1 family of proteins. The encoded protein may undergo proteolytic activation before storage in azurophil granules, in neutrophil cells of the immune system. Following neutrophil activation, the protease is released into the pericellular environment, where it may play a role in defense against microbial pathogens. [provided by RefSeq, Jul 2016]

GeneCards Summary for PRSS57 Gene

PRSS57 (Serine Protease 57) is a Protein Coding gene. Diseases associated with PRSS57 include Gastrointestinal System Disease. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is GZMM.

UniProtKB/Swiss-Prot for PRSS57 Gene

  • Serine protease that cleaves preferentially after Arg residues (PubMed:22474388, PubMed:23904161, PubMed:25156428). Can also cleave after citrulline (deimidated arginine) and methylarginine residues (PubMed:25156428).

Additional gene information for PRSS57 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRSS57 Gene

Genomics for PRSS57 Gene

GeneHancer (GH) Regulatory Elements for PRSS57 Gene

Promoters and enhancers for PRSS57 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J000702 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 650.4 -8.1 -8141 2.5 HDGF PKNOX1 ARNT ARID4B SIN3A POLR2B ATF7 SP5 NCOA1 KAT8 PALM PRSS57 DAZAP1 MIER2
GH19J000694 Promoter/Enhancer 1 EPDnew Ensembl 650.7 +0.2 230 1.4 SCRT1 BCOR RNF2 ZKSCAN8 SCRT2 MAX MNT PRSS57 RPS2P52
GH19J000697 Enhancer 0.4 Ensembl 650.7 -1.9 -1870 0.4 NFIC POLR2A REST PRSS57 PALM
GH19J000823 Promoter/Enhancer 1.7 EPDnew FANTOM5 ENCODE 3.1 -128.2 -128181 0.5 HDAC1 ATF1 RB1 NFRKB POLR2B ZNF766 ATF7 CREM SMAD5 ZBTB2 AZU1 PLPPR3 GC19P000823 PRTN3 ELANE PRSS57 BSG PTBP1
GH19J000707 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 0.4 -13.0 -12983 2.6 ZNF48 ZBTB40 SCRT2 SP5 REST GATAD2B ELF1 ZNF148 NFIC RCOR2 PALM MEX3D DAZAP1 MIER2 PRSS57
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRSS57 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PRSS57 Gene

Genomic Locations for PRSS57 Gene
chr19:685,546-695,531
(GRCh38/hg38)
Size:
9,986 bases
Orientation:
Minus strand
chr19:685,521-695,461
(GRCh37/hg19)
Size:
9,941 bases
Orientation:
Minus strand

Genomic View for PRSS57 Gene

Genes around PRSS57 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRSS57 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRSS57 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRSS57 Gene

Proteins for PRSS57 Gene

  • Protein details for PRSS57 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UWY2-PRS57_HUMAN
    Recommended name:
    Serine protease 57
    Protein Accession:
    Q6UWY2
    Secondary Accessions:
    • B2RNW8

    Protein attributes for PRSS57 Gene

    Size:
    283 amino acids
    Molecular mass:
    30334 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PRSS57 Gene

neXtProt entry for PRSS57 Gene

Post-translational modifications for PRSS57 Gene

  • After cleavage of the signal peptide, the N-terminus is probably further processed by CTSC (PubMed:22474388, PubMed:23904161). Processing by CTSC is probably required for accumulation in cytoplasmic granules; in the absence of CTSC the protein does not accumulate (PubMed:23904161).
  • N-glycosylated.

Other Protein References for PRSS57 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PRSS57 Gene

Domains & Families for PRSS57 Gene

Gene Families for PRSS57 Gene

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

Suggested Antigen Peptide Sequences for PRSS57 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6UWY2

UniProtKB/Swiss-Prot:

PRS57_HUMAN :
  • Belongs to the peptidase S1 family.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with PRSS57: view

Function for PRSS57 Gene

Molecular function for PRSS57 Gene

UniProtKB/Swiss-Prot Function:
Serine protease that cleaves preferentially after Arg residues (PubMed:22474388, PubMed:23904161, PubMed:25156428). Can also cleave after citrulline (deimidated arginine) and methylarginine residues (PubMed:25156428).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by SERPINA1, SERPINC1 and SERPING1.

Enzyme Numbers (IUBMB) for PRSS57 Gene

Gene Ontology (GO) - Molecular Function for PRSS57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0008201 heparin binding IEA,IDA 25156428
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA,IDA 25156428
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PRSS57: view
genes like me logo Genes that share phenotypes with PRSS57: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PRSS57

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PRSS57 Gene

Localization for PRSS57 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRSS57 Gene

Cytoplasmic granule lumen. Secreted. Note=Stored in cytoplasmic granules and secreted as active enzyme in response to stimulation of neutrophils. {ECO:0000269 PubMed:22474388}.

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 PRSS57 gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 2
endoplasmic reticulum 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PRSS57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 22474388
GO:0035578 azurophil granule lumen IDA 23904161
genes like me logo Genes that share ontologies with PRSS57: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PRSS57 Gene

Pathways & Interactions for PRSS57 Gene

SuperPathways for PRSS57 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PRSS57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,IDA 22474388
genes like me logo Genes that share ontologies with PRSS57: view

No data available for Pathways by source and SIGNOR curated interactions for PRSS57 Gene

Drugs & Compounds for PRSS57 Gene

No Compound Related Data Available

Transcripts for PRSS57 Gene

mRNA/cDNA for PRSS57 Gene

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PRSS57 Gene

Protease, serine, 57:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRSS57 Gene

No ASD Table

Relevant External Links for PRSS57 Gene

GeneLoc Exon Structure for
PRSS57
ECgene alternative splicing isoforms for
PRSS57

Expression for PRSS57 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PRSS57 Gene

mRNA differential expression in normal tissues according to GTEx for PRSS57 Gene

This gene is overexpressed in Whole Blood (x38.8) and Spleen (x4.1).

Protein differential expression in normal tissues from HIPED for PRSS57 Gene

This gene is overexpressed in Monocytes (35.0) and Cervix (31.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PRSS57 Gene



Protein tissue co-expression partners for PRSS57 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PRSS57 Gene:

PRSS57

SOURCE GeneReport for Unigene cluster for PRSS57 Gene:

Hs.245146

mRNA Expression by UniProt/SwissProt for PRSS57 Gene:

Q6UWY2-PRS57_HUMAN
Tissue specificity: Detected in peripheral blood neutrophil granulocytes, but not in other types of leukocytes. Detected in neutrophils and neutrophil precursors in bone marrow (at protein level) (PubMed:22474388, PubMed:23904161). Detected in myeloblasts and promyelocytes in bone marrow (PubMed:23904161).

Evidence on tissue expression from TISSUES for PRSS57 Gene

  • Intestine(2.1)
genes like me logo Genes that share expression patterns with PRSS57: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for PRSS57 Gene

Orthologs for PRSS57 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PRSS57 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRSS57 34 33
  • 97.76 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PRSS57 34 33
  • 82.05 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PRSS57 34 33
  • 79.71 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prss57 33
  • 74.29 (n)
mouse
(Mus musculus)
Mammalia Prss57 16 34 33
  • 74.13 (n)
oppossum
(Monodelphis domestica)
Mammalia PRSS57 34
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRSS57 34
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRSSL1 33
  • 56.97 (n)
PRSS57 34
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497492 33
  • 49.49 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-21e2.7 33
  • 47.42 (n)
Species where no ortholog for PRSS57 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)
  • 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)
  • lizard (Anolis carolinensis)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PRSS57 Gene

ENSEMBL:
Gene Tree for PRSS57 (if available)
TreeFam:
Gene Tree for PRSS57 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PRSS57: view image

Paralogs for PRSS57 Gene

Paralogs for PRSS57 Gene

genes like me logo Genes that share paralogs with PRSS57: view

Variants for PRSS57 Gene

Sequence variations from dbSNP and Humsavar for PRSS57 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs776563968 likely-benign, Long QT syndrome 694,958(-) C/A/T coding_sequence_variant, missense_variant
rs1000165420 -- 696,384(-) C/T upstream_transcript_variant
rs1000485693 -- 686,765(-) C/T intron_variant
rs1000635845 -- 691,790(-) G/A intron_variant
rs1000771604 -- 691,560(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PRSS57 Gene

Variant ID Type Subtype PubMed ID
dgv134n111 CNV deletion 26073780
esv2667208 CNV deletion 23128226
esv2717767 CNV deletion 23290073
esv2717768 CNV deletion 23290073
nsv428360 CNV gain 18775914
nsv470101 CNV loss 18288195
nsv577978 CNV gain 21841781
nsv953938 CNV deletion 24416366
nsv960769 CNV duplication 23825009

Variation tolerance for PRSS57 Gene

Residual Variation Intolerance Score: 84.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.17; 61.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRSS57 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRSS57

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRSS57 Gene

Disorders for PRSS57 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PRSS57 Gene - From: DISEASES

Disorder Aliases PubMed IDs
gastrointestinal system disease
  • alimentary system disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PRSS57

genes like me logo Genes that share disorders with PRSS57: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PRSS57 Gene

Publications for PRSS57 Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 4 58
  2. Structures of neutrophil serine protease 4 reveal an unusual mechanism of substrate recognition by a trypsin-fold protease. (PMID: 25156428) Lin SJ … Kirchhofer D (Structure (London, England : 1993) 2014) 3 4 58
  3. NSP4 is stored in azurophil granules and released by activated neutrophils as active endoprotease with restricted specificity. (PMID: 23904161) Perera NC … Jenne DE (Journal of immunology (Baltimore, Md. : 1950) 2013) 3 4 58
  4. NSP4, an elastase-related protease in human neutrophils with arginine specificity. (PMID: 22474388) Perera NC … Jenne DE (Proceedings of the National Academy of Sciences of the United States of America 2012) 3 4 58
  5. PEGylated substrates of NSP4 protease: A tool to study protease specificity. (PMID: 26955973) Wysocka M … Lesner A (Scientific reports 2016) 3 58

Products for PRSS57 Gene

Sources for PRSS57 Gene

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