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Aliases for PRSS8 Gene

Aliases for PRSS8 Gene

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

External Ids for PRSS8 Gene

Previous GeneCards Identifiers for PRSS8 Gene

  • GC16M030224
  • GC16M031639
  • GC16M031139
  • GC16M031178
  • GC16M031050
  • 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 Ichthyosis, Follicular and Diarrhea 5, With Tufting Enteropathy, Congenital. Among its related pathways are Keratinization and CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF). Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity. An important paralog of this gene is TPSG1.

UniProtKB/Swiss-Prot 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

Additional gene information for PRSS8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRSS8 Gene

Genomics for PRSS8 Gene

GeneHancer (GH) Regulatory Elements for PRSS8 Gene

Promoters and enhancers for PRSS8 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
GH16J031125 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.7 +4.7 4692 10.7 HDGF CLOCK ARNT NEUROD1 SIN3A ZNF766 ZNF207 ZNF548 MCM3 SP3 ENSG00000261385 PRSS8 SRCAP SETD1A ENSG00000260267 SMG1P5 ZNF764 ENSG00000260304 KAT8 BCL7C
GH16J031178 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.1 -45.0 -45004 4.7 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 FUS SETD1A SRCAP ZNF764 RNF40 ENSG00000260267 FBRS SMG1P5 ENSG00000260304 PRR14
GH16J031427 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 10.9 -293.6 -293579 4.5 ZNF639 MEIS2 USF1 L3MBTL2 ZNF740 RNF2 NRF1 MAX MNT ZNF592 ENSG00000277543 COX6A2 ENSG00000260740 ARMC5 PYDC1 PRSS8 PYCARD PRSS36 FUS ZNF646
GH16J031259 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 10.1 -124.4 -124448 1.5 EBF1 ELF1 ZFHX2 IKZF1 ETV6 PRDM10 IKZF2 RUNX3 EGR2 SPI1 ITGAM PYDC1 PYCARD PRSS36 PRSS8 ITGAX
GH16J031404 Enhancer 1.1 Ensembl ENCODE 11.1 -268.9 -268898 1.2 HDAC1 PKNOX1 NFIB KLF17 SIN3A ZBTB40 ZNF335 ZNF366 ZNF143 ZFP91 COX6A2 ARMC5 PRSS8 PRSS36 PYCARD STX4 STX1B ENSG00000260740 ENSG00000260757 ITGAD
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PRSS8 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PRSS8 Gene

Genomic Locations for PRSS8 Gene
chr16:31,131,433-31,135,830
(GRCh38/hg38)
Size:
4,398 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

Post-translational modifications for PRSS8 Gene

  • Glycosylation at Asn159
  • Modification sites at PhosphoSitePlus

Other Protein References for PRSS8 Gene

No data available for DME Specific Peptides for PRSS8 Gene

Domains & Families for PRSS8 Gene

Gene Families for PRSS8 Gene

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

Suggested Antigen Peptide Sequences for PRSS8 Gene

GenScript: Design optimal peptide antigens:

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:0004175 endopeptidase activity TAS --
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
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:

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

Clone Products

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 2
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

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 HDA,TAS 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

Pathways & Interactions for PRSS8 Gene

genes like me logo Genes that share pathways with PRSS8: view

Pathways by source for PRSS8 Gene

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 --
GO:0065009 regulation of molecular function IEA --
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

Unigene Clusters for PRSS8 Gene

Protease, serine, 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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
ECgene alternative splicing isoforms for
PRSS8

Expression for PRSS8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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



NURSA nuclear receptor signaling pathways regulating expression of PRSS8 Gene:

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(3.5)
  • Lung(3.3)
  • Skin(2.6)
  • Stomach(2.6)
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 34 33
  • 99.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PRSS8 34 33
  • 85.32 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Prss8 16 34 33
  • 80.14 (n)
cow
(Bos Taurus)
Mammalia PRSS8 34 33
  • 80.06 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prss8 33
  • 78.75 (n)
oppossum
(Monodelphis domestica)
Mammalia PRSS8 34
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRSS8 34
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRSS8 34
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prss8 33
  • 56.48 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8170 35
  • 36 (a)
CG7432 35
  • 36 (a)
Sb 35
  • 35 (a)
CG8213 35
  • 34 (a)
CG4998 35
  • 34 (a)
ndl 35
  • 33 (a)
CG1299 35
  • 33 (a)
mas 35
  • 33 (a)
CG8172 35
  • 32 (a)
worm
(Caenorhabditis elegans)
Secernentea C07G1.1 35
  • 36 (a)
ZK546.15 35
  • 33 (a)
Species where no ortholog for PRSS8 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)
  • 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)
  • 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

genes like me logo Genes that share paralogs with PRSS8: view

Variants for PRSS8 Gene

Sequence variations from dbSNP and Humsavar for PRSS8 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000861170 -- 31,133,352(-) C/G coding_sequence_variant, missense_variant
rs1000892251 -- 31,132,915(-) G/T coding_sequence_variant, missense_variant
rs1001486863 -- 31,134,611(-) G/C intron_variant
rs1002217979 -- 31,134,040(-) C/T intron_variant
rs1002537285 -- 31,135,520(-) G/A 5_prime_UTR_variant

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

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

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

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

Disorder Aliases PubMed IDs
ichthyosis, follicular
  • follicular ichthyosis
diarrhea 5, with tufting enteropathy, congenital
  • diar5
chromophobe renal cell carcinoma
  • chromophobe adenocarcinoma
cystic fibrosis
  • cf
- 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
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 22 58
  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 22 58
  3. Prostasin: a possible candidate gene for human hypertension. (PMID: 18583984) Zhu H … Dong Y (American journal of hypertension 2008) 3 22 44 58
  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 22 58
  5. Biochemical characterization of prostasin, a channel activating protease. (PMID: 15474520) Shipway A … Harris JL (Biochemical and biophysical research communications 2004) 3 4 22 58

Products for PRSS8 Gene

Sources for PRSS8 Gene

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