Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PRSS57 Gene

Aliases for PRSS57 Gene

  • Protease, Serine 57 2 3 5
  • Serine Protease 1-Like Protein 1 3 4
  • Neutrophil Serine Protease 4 3 4
  • PRSSL1 3 4
  • NSP4 3 4
  • Protease, Serine-Like 1 2
  • Serine Protease 57 3
  • 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 (Protease, Serine 57) is a Protein Coding gene. Diseases associated with PRSS57 include Gastrointestinal System Disease. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is CFD.

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).

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

Regulatory Elements for PRSS57 Gene

Enhancers for PRSS57 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G000823 1.3 FANTOM5 ENCODE 3.1 -128.2 -128182 0.5 ATF1 CREB3L1 SIN3A ZNF766 ELK1 KDM4B NCOA1 ZNF592 MBD2 SMARCA4 AZU1 PLPPR3 PRTN3 ELANE PRSS57 BSG PTBP1 GC19P000823
GH19G000698 1 Ensembl ENCODE 0.7 -4.0 -4032 1.5 BCOR KLF1 TAL1 ZMYM3 ZNF384 FOSL1 TCF12 NCOR1 TRIM24 SMARCE1 KISS1R PRSS57 PALM
GH19G000702 1.3 Ensembl ENCODE 0.4 -8.1 -8141 2.5 HDGF PKNOX1 CREB3L1 ARNT ARID4B DMAP1 ZNF48 ELK1 SP5 MIER2 PRSS57 PALM
GH19G000694 0.6 Ensembl 0.7 +0.2 231 1.4 BCOR SCRT1 RNF2 ZMYM3 MAX MNT ZBTB7A ZKSCAN8 SCRT2 PRSS57 RPS2P52
GH19G000707 0.9 ENCODE 0.4 -12.5 -12538 1.7 CBX3 ZSCAN9 ZNF48 ZBTB40 SP5 ZNF398 ZNF589 NFIC MXD3 RCOR2 PALM PRSS57
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PRSS57 on UCSC Golden Path with GeneCards custom track

Genomic Location for PRSS57 Gene

Chromosome:
19
Start:
685,546 bp from pter
End:
695,531 bp from pter
Size:
9,986 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

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 EnzymeRegulation:
Inhibited by SERPINA1, SERPINC1 and SERPING1.
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).

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

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for 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
endosome 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

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 IDA,IEA 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:

CRISPR Products

Inhibitory RNA Products

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, PaxDb, 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

Primer Products

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 35
  • 97.76 (n)
cow
(Bos Taurus)
Mammalia PRSS57 34 35
  • 82.05 (n)
dog
(Canis familiaris)
Mammalia PRSS57 34 35
  • 79.71 (n)
rat
(Rattus norvegicus)
Mammalia Prss57 34
  • 74.29 (n)
mouse
(Mus musculus)
Mammalia Prss57 34 16 35
  • 74.13 (n)
oppossum
(Monodelphis domestica)
Mammalia PRSS57 35
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRSS57 35
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRSSL1 34
  • 56.97 (n)
PRSS57 35
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497492 34
  • 49.49 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-21e2.7 34
  • 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)

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 Sequence Context AA Info Type
rs776563968 Likely benign 694,958(+) GGGCC(A/C)CCCAG reference, missense
rs1000165420 -- 696,384(+) ACAGC(C/T)GGCTA upstream-variant-2KB
rs1000485693 -- 686,765(+) CCCTG(C/T)ATGAC intron-variant
rs1000635845 -- 691,790(+) CTCCA(A/G)CCCGA intron-variant
rs1000771604 -- 691,560(+) CACGC(C/T)TGTAA 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)

Relevant External Links 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 and GeneCards

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

Relevant External Links for PRSS57

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 H.F. … Gray A.M. (Genome Res. 2003) 2 3 4 64
  2. Structures of neutrophil serine protease 4 reveal an unusual mechanism of substrate recognition by a trypsin-fold protease. (PMID: 25156428) Lin S.J. … Kirchhofer D. (Structure 2014) 3 4 64
  3. NSP4 is stored in azurophil granules and released by activated neutrophils as active endoprotease with restricted specificity. (PMID: 23904161) Perera N.C. … Jenne D.E. (J. Immunol. 2013) 3 4 64
  4. NSP4, an elastase-related protease in human neutrophils with arginine specificity. (PMID: 22474388) Perera N.C. … Jenne D.E. (Proc. Natl. Acad. Sci. U.S.A. 2012) 3 4 64
  5. PEGylated substrates of NSP4 protease: A tool to study protease specificity. (PMID: 26955973) Wysocka M. … Lesner A. (Sci Rep 2016) 3 64

Products for PRSS57 Gene

Sources for PRSS57 Gene

Content
Loading form....