This gene encodes a member of the peptidase S1 or chymotrypsin family of serine proteases. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate via a disulfide bond to form the heterodimeric enzyme. This enzyme is highly expressed in prostate epithelia and is one of several proteolytic enzymes found in seminal fluid. This prot... See more...

Aliases for PRSS8 Gene

Aliases for PRSS8 Gene

  • Serine Protease 8 2 3 4 5
  • Prostasin 2 3 4
  • Channel-Activating Protease 1 3 4
  • Protease, Serine 8 2 3
  • CAP1 3 4
  • EC 3.4.21.120 51
  • EC 3.4.21.- 4
  • PROSTASIN 3
  • EC 3.4.21 51
  • PRSS8 5

External Ids for PRSS8 Gene

Previous GeneCards Identifiers for PRSS8 Gene

  • GC16M030224
  • GC16M031639
  • GC16M031139
  • GC16M031178
  • GC16M031050
  • GC16M031142
  • GC16M028703

Summaries for PRSS8 Gene

Entrez Gene Summary for PRSS8 Gene

  • This gene encodes a member of the peptidase S1 or chymotrypsin family of serine proteases. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate via a disulfide bond to form the heterodimeric enzyme. This enzyme is highly expressed in prostate epithelia and is one of several proteolytic enzymes found in seminal fluid. This protease exhibits trypsin-like substrate specificity, cleaving protein substrates at the carboxyl terminus of lysine or arginine residues. The encoded protease partially mediates proteolytic activation of the epithelial sodium channel, a regulator of sodium balance, and may also play a role in epithelial barrier formation. [provided by RefSeq, Feb 2016]

GeneCards Summary for PRSS8 Gene

PRSS8 (Serine Protease 8) is a Protein Coding gene. Diseases associated with PRSS8 include Pseudohypoaldosteronism and Ichthyosis, Follicular. Among its related pathways are Keratinization and Developmental Biology. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity.

UniProtKB/Swiss-Prot Summary for PRSS8 Gene

  • Possesses a trypsin-like cleavage specificity with a preference for poly-basic substrates. Stimulates epithelial sodium channel (ENaC) activity through activating cleavage of the gamma subunits (SCNN1G).

Gene Wiki entry for PRSS8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PRSS8 Gene

Genomics for PRSS8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PRSS8 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 PRSS8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PRSS8

Top Transcription factor binding sites by QIAGEN in the PRSS8 gene promoter:
  • AP-4
  • AREB6
  • HEN1
  • ITF-2
  • LCR-F1
  • MAZR
  • NF-1
  • Pax-5
  • Tal-1beta
  • TBP

Genomic Locations for PRSS8 Gene

Genomic Locations for PRSS8 Gene
chr16:31,131,433-31,135,727
(GRCh38/hg38)
Size:
4,295 bases
Orientation:
Minus strand
chr16:31,142,754-31,147,151
(GRCh37/hg19)
Size:
4,398 bases
Orientation:
Minus strand

Genomic View for PRSS8 Gene

Genes around PRSS8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRSS8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRSS8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRSS8 Gene

Proteins for PRSS8 Gene

  • Protein details for PRSS8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16651-PRSS8_HUMAN
    Recommended name:
    Prostasin
    Protein Accession:
    Q16651
    Secondary Accessions:
    • B4DWP2
    • Q9UCA3

    Protein attributes for PRSS8 Gene

    Size:
    343 amino acids
    Molecular mass:
    36431 Da
    Quaternary structure:
    • Heterodimer of two chains, light and heavy, held by a disulfide bond.

    Three dimensional structures from OCA and Proteopedia for PRSS8 Gene

    Alternative splice isoforms for PRSS8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRSS8 Gene

Selected DME Specific Peptides for PRSS8 Gene

Q16651:
  • DACQGDSGG
  • GDSGGPL
  • WVLSAAHC
  • LQQLEVP
  • TGIVSWG
  • IRPICLP
  • CQGDSGGP

Post-translational modifications for PRSS8 Gene

  • Glycosylation at Asn159
  • Modification sites at PhosphoSitePlus

Other Protein References for PRSS8 Gene

Antibody Products

  • Abcam antibodies for PRSS8
  • Boster Bio Antibodies for PRSS8

Domains & Families for PRSS8 Gene

Gene Families for PRSS8 Gene

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

Protein Domains for PRSS8 Gene

InterPro:
Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature
ProtoNet:

Suggested Antigen Peptide Sequences for PRSS8 Gene

GenScript: Design optimal peptide antigens:
  • Serine protease 8 (PRSS8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16651

UniProtKB/Swiss-Prot:

PRSS8_HUMAN :
  • Belongs to the peptidase S1 family.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with PRSS8: view

Function for PRSS8 Gene

Molecular function for PRSS8 Gene

UniProtKB/Swiss-Prot Function:
Possesses a trypsin-like cleavage specificity with a preference for poly-basic substrates. Stimulates epithelial sodium channel (ENaC) activity through activating cleavage of the gamma subunits (SCNN1G).
GENATLAS Biochemistry:
protease serine 8,prostasin from the seminal fluid,with strong homology to acrosin,plasma kallikrein and hepsin,predominantly expressed in prostate

Enzyme Numbers (IUBMB) for PRSS8 Gene

Phenotypes From GWAS Catalog for PRSS8 Gene

Gene Ontology (GO) - Molecular Function for PRSS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0005515 protein binding IPI 19911255
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity TAS 8034638
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PRSS8: view
genes like me logo Genes that share phenotypes with PRSS8: view

Animal Models for PRSS8 Gene

MGI Knock Outs for PRSS8:
  • Prss8 Prss8<tm1.1Hum>
  • Prss8 Prss8<tm1b(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for PRSS8

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRSS8

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PRSS8 Gene

Localization for PRSS8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRSS8 Gene

[Prostasin]: Cell membrane. Single-pass membrane protein.
[Prostasin light chain]: Secreted, extracellular space. Note=Found in the seminal fluid. Secreted after cleavage of its C-terminus.
[Prostasin heavy chain]: Secreted, extracellular space. Note=Found in the seminal fluid. Secreted after cleavage of its C-terminus.

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 PRSS8 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 3
nucleus 3
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PRSS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS 10077646
GO:0005615 extracellular space TAS,HDA 16502470
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PRSS8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PRSS8 Gene

Pathways & Interactions for PRSS8 Gene

PathCards logo

SuperPathways for PRSS8 Gene

SuperPathway Contained pathways
1 Keratinization
2 Developmental Biology
3 CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
-
genes like me logo Genes that share pathways with PRSS8: view

Pathways by source for PRSS8 Gene

1 GeneGo (Thomson Reuters) pathway for PRSS8 Gene
  • CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)

Gene Ontology (GO) - Biological Process for PRSS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0010765 positive regulation of sodium ion transport IBA 21873635
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with PRSS8: view

No data available for SIGNOR curated interactions for PRSS8 Gene

Drugs & Compounds for PRSS8 Gene

(6) Drugs for PRSS8 Gene - From: DrugBank, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
1-[4-(hydroxymethyl)phenyl]guanidine Experimental Pharma Target 0
B3C Pharma 0

(1) Additional Compounds for PRSS8 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PRSS8: view

Transcripts for PRSS8 Gene

mRNA/cDNA for PRSS8 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRSS8

Alternative Splicing Database (ASD) splice patterns (SP) for PRSS8 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6
SP1:
SP2:
SP3: -

Relevant External Links for PRSS8 Gene

GeneLoc Exon Structure for
PRSS8

Expression for PRSS8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PRSS8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PRSS8 Gene

This gene is overexpressed in Colon - Transverse (x7.4), Minor Salivary Gland (x5.1), Stomach (x5.1), Esophagus - Mucosa (x4.9), Small Intestine - Terminal Ileum (x4.3), and Skin - Sun Exposed (Lower leg) (x4.1).

Protein differential expression in normal tissues from HIPED for PRSS8 Gene

This gene is overexpressed in Urine (18.3), Thyroid (16.7), Saliva (14.0), and Pancreatic juice (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PRSS8 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PRSS8

SOURCE GeneReport for Unigene cluster for PRSS8 Gene:

Hs.75799

mRNA Expression by UniProt/SwissProt for PRSS8 Gene:

Q16651-PRSS8_HUMAN
Tissue specificity: Found in prostate, liver, salivary gland, kidney, lung, pancreas, colon, bronchus and renal proximal tubular cells. In the prostate gland it may be synthesized in epithelial cells, secreted into the ducts, and excreted into the seminal fluid.

Evidence on tissue expression from TISSUES for PRSS8 Gene

  • Intestine(4.9)
  • Kidney(3.7)
  • Lung(3.5)
  • Stomach(3.1)
  • Skin(2.8)
  • Liver(2.4)
  • Pancreas(2.4)
  • Thyroid gland(2.2)
genes like me logo Genes that share expression patterns with PRSS8: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PRSS8 Gene

Orthologs for PRSS8 Gene

This gene was present in the common ancestor of animals.

Orthologs for PRSS8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PRSS8 30 31
  • 99.42 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PRSS8 30 31
  • 85.32 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Prss8 30 17 31
  • 80.14 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PRSS8 30 31
  • 80.06 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Prss8 30
  • 78.75 (n)
Oppossum
(Monodelphis domestica)
Mammalia PRSS8 31
  • 66 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PRSS8 31
  • 62 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PRSS8 31
  • 46 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia prss8 30
  • 56.48 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG7432 32
  • 36 (a)
CG8170 32
  • 36 (a)
Sb 32
  • 35 (a)
CG8213 32
  • 34 (a)
CG4998 32
  • 34 (a)
mas 32
  • 33 (a)
CG1299 32
  • 33 (a)
ndl 32
  • 33 (a)
CG8172 32
  • 32 (a)
Worm
(Caenorhabditis elegans)
Secernentea C07G1.1 32
  • 36 (a)
ZK546.15 32
  • 33 (a)
Species where no ortholog for PRSS8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (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)
  • Zebrafish (Danio rerio)

Evolution for PRSS8 Gene

ENSEMBL:
Gene Tree for PRSS8 (if available)
TreeFam:
Gene Tree for PRSS8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PRSS8: view image

Paralogs for PRSS8 Gene

No data available for Paralogs for PRSS8 Gene

Variants for PRSS8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PRSS8 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
771199 Benign: not provided 31,135,476(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PRSS8 Gene

Structural Variations from Database of Genomic Variants (DGV) for PRSS8 Gene

Variant ID Type Subtype PubMed ID
nsv457483 CNV loss 19166990
nsv571820 CNV loss 21841781

Variation tolerance for PRSS8 Gene

Residual Variation Intolerance Score: 23.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.45; 9.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRSS8 Gene

Human Gene Mutation Database (HGMD)
PRSS8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRSS8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRSS8 Gene

Disorders for PRSS8 Gene

MalaCards: The human disease database

(12) MalaCards diseases for PRSS8 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pseudohypoaldosteronism
ichthyosis, follicular
  • follicular ichthyosis
conn's syndrome
  • adrenal cortical adenoma
chromophobe renal cell carcinoma
  • chromophobe adenocarcinoma
hypotrichosis
- elite association - COSMIC cancer census association via MalaCards
Search PRSS8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PRSS8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PRSS8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PRSS8 Gene

Publications for PRSS8 Gene

  1. Molecular cloning, tissue-specific expression, and cellular localization of human prostasin mRNA. (PMID: 7768952) Yu JX … Chao J (The Journal of biological chemistry 1995) 2 3 4 23
  2. Active site conformational changes of prostasin provide a new mechanism of protease regulation by divalent cations. (PMID: 19388054) Spraggon G … Lesley SA (Protein science : a publication of the Protein Society 2009) 3 4 23
  3. Prostasin: a possible candidate gene for human hypertension. (PMID: 18583984) Zhu H … Dong Y (American journal of hypertension 2008) 3 23 41
  4. Prostasin, a membrane-anchored serine peptidase, regulates sodium currents in JME/CF15 cells, a cystic fibrosis airway epithelial cell line. (PMID: 15246975) Tong Z … Caughey GH (American journal of physiology. Lung cellular and molecular physiology 2004) 3 4 23
  5. Biochemical characterization of prostasin, a channel activating protease. (PMID: 15474520) Shipway A … Harris JL (Biochemical and biophysical research communications 2004) 3 4 23

Products for PRSS8 Gene

Sources for PRSS8 Gene