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PRSS8 Gene

protein-coding   GIFtS: 65
GCID: GC16M031142

Protease, Serine, 8

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Protease, Serine, 81 2     PROSTASIN2
prostasin1 2     EC 3.4.21.-3
Channel-Activating Protease 12 3     EC 3.4.218
Serine Protease 82 3     EC 3.4.21.1208
CAP12 3     

External Ids:    HGNC: 94911   Entrez Gene: 56522   Ensembl: ENSG000000523447   OMIM: 6008235   UniProtKB: Q166513   

Export aliases for PRSS8 gene to outside databases

Previous GC identifers: GC16M030224 GC16M031639 GC16M031139 GC16M031178 GC16M031050 GC16M028703


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PRSS8 Gene:
This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is
highly expressed in prostate epithelia and is one of several proteolytic enzymes found in seminal fluid. The
proprotein is cleaved to produce a light chain and a heavy chain which are associated by a disulfide bond. It is
active on peptide linkages involving the carboxyl group of lysine or arginine. (provided by RefSeq, Jul 2008)

GeneCards Summary for PRSS8 Gene:
PRSS8 (protease, serine, 8) is a protein-coding gene. Diseases associated with PRSS8 include ichthyosis, follicular, and ichthyosis with hypotrichosis. GO annotations related to this gene include serine-type peptidase activity and serine-type endopeptidase activity. An important paralog of this gene is PRSS46.

UniProtKB/Swiss-Prot: PRSS8_HUMAN, Q16651
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)

Gene Wiki entry for PRSS8 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NC_018927.2  NT_187260.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the PRSS8 gene promoter:
         TBP   NF-1   Pax-5   MAZR   AP-4   LCR-F1   Tal-1beta   AREB6   HEN1   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPRSS8 promoter sequence
   Search Chromatin IP Primers for PRSS8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PRSS8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.2

PRSS8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRSS8 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M031142:  view genomic region     (about GC identifiers)

Start:
31,142,754 bp from pter      End:
31,147,151 bp from pter
Size:
4,398 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PRSS8_HUMAN, Q16651 (See protein sequence)
Recommended Name: Prostasin precursor  
Size: 343 amino acids; 36431 Da
Subunit: Heterodimer of two chains, light and heavy, held by a disulfide bond
Selected PDB 3D structures from and Proteopedia for PRSS8 (see all 9):
3DFJ (3D)        3DFL (3D)        3E0N (3D)        3E0P (3D)        3E16 (3D)        3E1X (3D)    
Secondary accessions: Q9UCA3

Explore the universe of human proteins at neXtProt for PRSS8: NX_Q16651

Explore proteomics data for PRSS8 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn159
  • Selected DME Specific Peptides for PRSS8 (Q16651) (see all 7)
     TGIVSWG  GDSGGPL  LQQLEVP  IRPICLP 


    See PRSS8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002764.1  
    ENSEMBL proteins: 
     ENSP00000319730   ENSP00000457750   ENSP00000457673   ENSP00000458056  

    PRSS8 Human Recombinant Protein Products:

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    Novus Biologicals PRSS8 Lysate
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    Sino Biological Cell Lysate for PRSS8
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    Cloud-Clone Corp. Proteins for PRSS8

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    Cloud-Clone Corp. CLIAs for PRSS8


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PRSS: Serine peptidases / Serine peptidases

    4 InterPro protein domains:
     IPR001314 Peptidase_S1A
     IPR001254 Peptidase_S1
     IPR018114 Peptidase_S1_AS
     IPR009003 Trypsin-like_Pept_dom

    Graphical View of Domain Structure for InterPro Entry Q16651

    ProtoNet protein and cluster: Q16651

    2 Blocks protein domains:
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature


    UniProtKB/Swiss-Prot: PRSS8_HUMAN, Q16651
    Similarity: Belongs to the peptidase S1 family
    Similarity: Contains 1 peptidase S1 domain


    PRSS8 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PRSS8_HUMAN, Q16651
    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 entry for PRSS8:
    protease serine 8,prostasin from the seminal fluid,with strong homology to acrosin,plasma kallikrein and
    hepsin,predominantly expressed in prostate

         Enzyme Numbers (IUBMB): EC 3.4.212 EC 3.4.21.1202 EC 3.4.21.-1

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity IEA--
    GO:0005515protein binding IPI19911255
    GO:0008236serine-type peptidase activity TAS8034638
         
    PRSS8 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PRSS8:
     Decreased influenza A virus in  Decreased nuclei size in G2M 

         11 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Prss8):
     embryogenesis  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     integument  limbs/digits/tail  mortality/aging  nervous system  no phenotypic analysis 
     normal 

    PRSS8 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Prss8tm1.1Hum for PRSS8

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PRSS8
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PRSS8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PRSS8
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PRSS8

    miRNA
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    miRTarBase miRNAs that target PRSS8:
    hsa-mir-335-5p (MIRT018875)

    Block miRNA regulation of human, mouse, rat PRSS8 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate PRSS8:
    hsa-miR-4283 hsa-miR-4264 hsa-miR-31 hsa-miR-1203 hsa-miR-455-3p hsa-miR-24 hsa-miR-1910 hsa-miR-1289
    SwitchGear 3'UTR luciferase reporter plasmidPRSS8 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat PRSS8

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: PRSS8 (NM_002773)
    Sino Biological Human cDNA Clone for PRSS8
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRSS8

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRSS8


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PRSS8_HUMAN, Q16651: Prostasin: Cell membrane; Single-pass membrane protein
    PRSS8_HUMAN, Q16651: Prostasin light chain: Secreted, extracellular space. Note=Found in the seminal fluid.
    Secreted after cleavage of its C-terminus
    PRSS8_HUMAN, Q16651: Prostasin heavy chain: Secreted, extracellular space. Note=Found in the seminal fluid.
    Secreted after cleavage of its C-terminus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    cytoskeleton1
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS10077646
    GO:0005615extracellular space IEA--
    GO:0005886plasma membrane IDA19911255
    GO:0016021integral component of membrane IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    PRSS8 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PRSS8 About    
    See pathways by source

    SuperPathContained pathways About
    1CFTR dependent regulation of ion channels in Airway Epithelium norm and CF
    CFTR dependent regulation of ion channels in Airway Epithelium norm and CF

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PRSS8
    Interactions:

        GeneGlobe Interaction Network for PRSS8

    1 Interacting protein for PRSS8 (Q166512, 3) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATF7IPQ6VMQ62, 3MINT-61922 I2D: score=3 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0010765positive regulation of sodium ion transport IEA--

    PRSS8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PRSS8

    1 DrugBank Compound for PRSS8    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    1-[4-(hydroxymethyl)phenyl]guanidine-- --target--10592235

    5 Novoseek inferred chemical compound relationships for PRSS8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 79.7 76 12506133 (4), 11274175 (4), 11967240 (4), 8034638 (3) (see all 38)
    aprotinin 71.3 5 11373334 (2), 12506133 (1), 15246975 (1)
    sodium 65.6 56 11373334 (4), 16172430 (4), 12506133 (3), 19262497 (3) (see all 20)
    nitric oxide 0 1 16638913 (1)
    potassium 0 2 11373334 (1)



    PRSS8 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PRSS8 gene: 
    NM_002773.3  

    Unigene Cluster for PRSS8:

    Protease, serine, 8
    Hs.75799  [show with all ESTs]
    Unigene Representative Sequence: NM_002773
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000317508(uc002ebc.4 uc010vfe.2) ENST00000568261 ENST00000567531
    ENST00000567797 ENST00000564025 ENST00000567833
    miRNA
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    Block miRNA regulation of human, mouse, rat PRSS8 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate PRSS8:
    hsa-miR-4283 hsa-miR-4264 hsa-miR-31 hsa-miR-1203 hsa-miR-455-3p hsa-miR-24 hsa-miR-1910 hsa-miR-1289
    SwitchGear 3'UTR luciferase reporter plasmidPRSS8 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PRSS8
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PRSS8
      QuantiTect SYBR Green Assays in human, mouse, rat PRSS8
      QuantiFast Probe-based Assays in human, mouse, rat PRSS8

    Additional mRNA sequence: 

    AK296656.1 AK301619.1 AK309955.1 BC001462.2 L41351.1 

    13 DOTS entries:

    DT.85100542  DT.95104069  DT.97806684  DT.100823093  DT.95104125  DT.120688803  DT.120688858  DT.95104117 
    DT.100823091  DT.120688813  DT.95104070  DT.120688814  DT.102823948 

    Selected AceView cDNA sequences (see all 266):

    AU139870 AI459957 BM987453 AW778959 BP356278 BP352347 BM794592 CB125988 
    BM745560 BP333910 AI129460 BG386531 BP342746 BM773139 BP334748 AW591183 
    BC001462 CK821693 AW050883 AI457933 AW779184 BM929920 AI469891 BP352764 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for PRSS8    About this scheme

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


    ECgene alternative splicing isoforms for PRSS8

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PRSS8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACCAGCCCA
    PRSS8 Expression
    About this image


    PRSS8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Ureteric Bud Cells Ureteric Bud
             Renal Collecting Duct System
     
     Epithelial Cells
             Corneocytes Stratified Epidermis
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Epidermis (Integumentary System)
             Corneocytes Stratified Epidermis
     
     Epiblast (Early Embryonic Tissues)
             Epiblast Cells Epiblast
    PRSS8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PRSS8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.75799

    UniProtKB/Swiss-Prot: PRSS8_HUMAN, Q16651
    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

        Custom PCR Arrays for PRSS8
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    QuantiFast Probe-based Assays in human, mouse, rat PRSS8
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRSS8

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for PRSS8 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prss81 , 5 protease, serine, 8 (prostasin)5
    protease, serine 8 (prostasin)1
    80.14(n)1
    77.16(a)1
      7 (69.84 cM)5
    765601  NM_133351.31  NP_579929.11 
     1279257255 
    lizard
    (Anolis carolinensis)
    Reptilia PRSS86
    protease, serine, 8
    46(a)
    1 ↔ 1
    GL343220.1(2290775-2314067)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia prss81 protease, serine, 8 56.48(n)
    48.36(a)
      549734  NM_001016980.2  NP_001016980.1 


    ENSEMBL Gene Tree for PRSS8 (if available)
    TreeFam Gene Tree for PRSS8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PRSS8 gene
    PRSS462  PRSS482  PRSS222  PRSS272  TMPRSS92  PRSS212  PRSS452  TPSG12  
    TPSD12  PRSS382  TPSAB12  PRSS532  PRSS502  PRSS422  PRSS362  PRSS332  
    TPSB22  
    Selected SIMAP similar genes for PRSS8 using alignment to 4 protein entries:     PRSS8_HUMAN (see all proteins) (see all similar genes):
    PRSS45    KLKB1    TMPRSS11B    PRSS1    PRSS33    C1R
    TMPRSS3    CELA3A    TMPRSS13    tryptaseC    PRSS48    HGFAC
    PRSS42    TPSB2    CTRB1    CELA2B    ELA2A    F11

    PRSS8 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PRSS8 (see all 125)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2006289951,2
    C--31143458(+) GCTGTC/TGGGCT 2 N D mis10--------
    rs783455641,2
    C--31143666(+) GGAGAA/GAAGCC 1 -- int10--------
    rs455917331,2
    C--31143691(+) AGGACC/TGGGCC 1 -- int10--------
    rs1482146251,2
    C--31143831(+) TTGGCA/GTCGAT 2 D syn10--------
    rs456197351,2
    C,F--31143993(+) AGCGTC/TCCACC 1 -- int14Minor allele frequency- T:0.31NA WA EU 786
    rs1996042271,2
    --31144013(+) GGGGCC/TACATG 2 V syn10--------
    rs2020465541,2
    --31144049(+) AGGCCA/GTTGGG 2 N syn10--------
    rs1842616291,2
    C--31144174(+) GGGGTG/TGGGGA 2 N H mis10--------
    rs1411689871,2
    --31144287(+) CAGGGA/GGCAAA 1 -- int10--------
    rs1502949691,2
    --31144400(+) TGTAAC/TCTCTG 1 -- int10--------

    HapMap Linkage Disequilibrium report for PRSS8 (31142754 - 31147151 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for PRSS8:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv905729CNV Loss21882294
    dgv2670n71CNV Loss21882294
    nsv457483CNV Loss19166990
    dgv2672n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): PRSS8
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PRSS8
    DNA2.0 Custom Variant and Variant Library Synthesis for PRSS8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600823    OMIM disorders: --

    Selected diseases for PRSS8 (see all 25):    
    About MalaCards
    ichthyosis, follicular    ichthyosis with hypotrichosis    hypohidrosis    chromophobe renal cell carcinoma
    pseudohypoaldosteronism type 1    pseudohypoaldosteronism    hypotrichosis    testicular germ cell tumor
    cystic fibrosis    bladder transitional cell carcinoma    germ cell tumors    renal cell carcinoma
    basal cell carcinoma    prostatitis    ovarian cancer    essential hypertension
    hypertension    transitional cell carcinoma    cervical cancer    prostate cancer


    PRSS8 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for PRSS8 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pseudohypoaldosteronism 68.3 1 15547682 (1)
    aldosteronism primary 37.9 4 11828000 (3), 16172430 (1)
    benign prostatic hyperplasia 33.5 1 19670249 (1)
    prostate carcinoma 28.1 3 17532063 (2), 18054338 (1)
    invasive cancer 27.8 2 19670249 (1), 19849847 (1)
    cystic fibrosis 21.1 9 15246975 (3), 18310226 (1), 12460120 (1)
    ovarian cancer 20.7 7 11584061 (3), 19606239 (3)
    prostate cancer 19.5 8 11433419 (3), 12518323 (3), 16541421 (1), 19670249 (1)
    cancer 3.11 8 12518323 (2), 19555470 (2), 18054338 (1), 16103126 (1)
    carcinoma 2.69 2 11173941 (1), 19555470 (1)

    Genetic Association Database (GAD): PRSS8
    Human Genome Epidemiology (HuGE) Navigator: PRSS8 (2 documents)

    Export disorders for PRSS8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PRSS8 gene, integrated from 10 sources (see all 94):
    (articles sorted by number of sources associating them with PRSS8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning, tissue-specific expression, and cellular localization of human prostasin mRNA. (PubMed id 7768952)1, 2, 3, 9 Yu J.X.... Chao J. (J. Biol. Chem. 1995)
    2. Prostasin, a membrane-anchored serine peptidase, regulates sodium currents in JME/CF15 cells, a cystic fibrosis airway epithelial cell line. (PubMed id 15246975)1, 2, 9 Tong Z.... Caughey G.H. (Am. J. Physiol. 2004)
    3. Prostasin is a novel human serine proteinase from seminal fluid. Purification, tissue distribution, and localization in prostate gland. (PubMed id 8034638)1, 2, 9 Yu J.X.... Chao J. (J. Biol. Chem. 1994)
    4. Biochemical characterization of prostasin, a channel activating protease. (PubMed id 15474520)1, 2, 9 Shipway A....Harris J.L. (Biochem. Biophys. Res. Commun. 2004)
    5. Structure and chromosomal localization of the human prostasin (PRSS8) gene. (PubMed id 8838796)1, 3, 9 Yu J.X....Chao J. (Genomics 1996)
    6. Active site conformational changes of prostasin provide a new mechanism of protease regulation by divalent cations. (PubMed id 19388054)1, 2, 9 Spraggon G.... Lesley S.A. (Protein Sci. 2009)
    7. Prostasin: a possible candidate gene for human hypertension. (PubMed id 18583984)1, 4, 9 Zhu H....Dong Y. (Am. J. Hypertens. 2008)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Urinary prostasin in humans: relationships among prostasin, aldosterone and epithelial sodium channel activity. (PubMed id 19262497)1, 9 Koda A....Kitamura K. (Hypertens. Res. 2009)
    10. Loss of prostasin (PRSS8) in human bladder transitional cell carcinoma cell lines is associated with epithelial-mesenchymal transition (EMT). (PubMed id 19849847)1, 9 Chen L.M....Chai K.X. (BMC Cancer 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5652 HGNC: 9491 AceView: PRSS8 Ensembl:ENSG00000052344 euGenes: HUgn5652
    ECgene: PRSS8 H-InvDB: PRSS8

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PRSS8 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PRSS8 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PRSS8 gene:
    Search GeneIP for patents involving PRSS8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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