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PRSS48 Gene

protein-coding   GIFtS: 40
GCID: GC04P152198

Protease, Serine, 48

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(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, 481 2
Epidermis-Specific Serine Protease-Like Protein2 3
ESSPL2 3
Serine Protease 482
EC 3.4.21.-3

External Ids:    HGNC: 246351   Entrez Gene: 3450622   Ensembl: ENSG000001890997   UniProtKB: Q7RTY53   

Export aliases for PRSS48 gene to outside databases

Previous GC identifers: GC04P152418 GC04P147923


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PRSS48 Gene:
PRSS48 (protease, serine, 48) is a protein-coding gene. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is PRSS46.


(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 at NCBI GenBank:
NC_000004.11  NC_018915.2  NT_016354.20  
Regulatory elements:
   Search for regulatory transcription factor binding sites for PRSS48
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPRSS48 promoter sequence
   Search Chromatin IP Primers for PRSS48

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PRSS48


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

Entrez Gene cytogenetic band: 4q31.3   Ensembl cytogenetic band:  4q31.3   HGNC cytogenetic band: 4q31.3

PRSS48 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRSS48 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P152198:  view genomic region     (about GC identifiers)

Start:
152,198,323 bp from pter      End:
152,212,605 bp from pter
Size:
14,283 bases      Orientation:
plus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: PRS48_HUMAN, Q7RTY5 (See protein sequence)
Recommended Name: Serine protease 48 precursor  
Size: 328 amino acids; 35970 Da
Sequence caution: Sequence=CAD67963.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;
Secondary accessions: Q08E82 Q0VAD4
Alternative splicing: 2 isoforms:  Q7RTY5-2   Q7RTY5-3   

Explore the universe of human proteins at neXtProt for PRSS48: NX_Q7RTY5

Explore proteomics data for PRSS48 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn263

  • See PRSS48 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_899231.2  
    ENSEMBL proteins: 
     ENSP00000401328   ENSP00000401420  

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    (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 Q7RTY5

    ProtoNet protein and cluster: Q7RTY5

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


    UniProtKB/Swiss-Prot: PRS48_HUMAN, Q7RTY5
    Similarity: Belongs to the peptidase S1 family
    Similarity: Contains 1 peptidase S1 domain


    Find genes that share domains with PRSS48           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Enzyme Number (IUBMB): EC 3.4.21.-1

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity IEA--
         
    Find genes that share ontologies with PRSS48           About GenesLikeMe


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    (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
    PRS48_HUMAN, Q7RTY5: Secreted (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    plasma membrane3

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    Find genes that share ontologies with PRSS48           About GenesLikeMe


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PRSS48
    Interactions:

        Search GeneGlobe Interaction Network for PRSS48

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----

    Find genes that share ontologies with PRSS48           About GenesLikeMe



    (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 PRSS48 (PRS48)



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PRSS48 gene: 
    NM_183375.2  

    Unigene Cluster for PRSS48:

    Protease, serine, 48
    Hs.651266  [show with all ESTs]
    Unigene Representative Sequence: BC121109
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000455694(uc011cif.2) ENST00000441586(uc011cig.2)
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat PRSS48

    Additional mRNA sequence: 

    BC121109.1 BC121110.1 

    2 DOTS entries:

    DT.101961044  DT.102841036 

    2 AceView cDNA sequences:

    BN000134 NM_183375 

    GeneLoc Exon Structure


    (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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    PRSS48 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGATTTAGT
    PRSS48 Expression
    About this image

    PRSS48 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PRSS48 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.651266
        Custom PCR Arrays for PRSS48
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRSS48

    (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 PRSS48 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prss485 protease, serine, 48   --   3 (37.83 cM) 85993810 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    37(a)
    37(a)
    many ↔ many
    many ↔ many
    GL343287.1(1454751-1470659)
    GL343253.1(1843088-1847017)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1120381 zgc:112038 52.17(n)
    45.45(a)
      553673  NM_001020646.1  NP_001018482.1 


    ENSEMBL Gene Tree for PRSS48 (if available)
    TreeFam Gene Tree for PRSS48 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PRSS48 gene
    PRSS462  PRSS222  PRSS272  TMPRSS92  PRSS212  PRSS452  TPSG12  TPSD12  
    PRSS382  TPSAB12  PRSS532  PRSS502  PRSS332  PRSS422  PRSS362  PRSS82  
    TPSB22  
    Selected SIMAP similar genes for PRSS48 using alignment to 1 protein entry:     PRS48_HUMAN(see all similar genes):
    PRSS38    PRSS8    PRSS21    PRSS22    PRSS41    PRSS44
    TMPRSS11A    TMPRSS11D    TMPRSS12    DESC1    HPN    PRSS27
    PRSS36    PRSS42    TMPRSS11E    TMPRSS6    TMPRSS9    TPSG1

    Find genes that share paralogs with PRSS48           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for PRSS48
    PGOHUM00000259918


    (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 PRSS48 (see all 380)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1912112591,2
    --152196434(+) CGGGTA/TTTCAC 1 -- us2k10--------
    rs1489803761,2
    --152196441(+) TCACTA/GTGTTA 1 -- us2k10--------
    rs44179491,2
    C,F,A,H--152196487(+) acccgA/Cctcgg 1 -- us2k15Minor allele frequency- C:0.42NA 12
    rs1820140551,2
    --152196563(+) AGACAC/TAATTC 1 -- us2k10--------
    rs1876243511,2
    --152196613(+) TAAGCC/TAGCTT 1 -- us2k10--------
    rs1905035061,2
    --152196802(+) CGAGTA/GGCTGG 1 -- us2k10--------
    rs752940411,2
    C--152196919(+) CCTCCA/CCGTTC 1 -- us2k10--------
    rs795279991,2
    C--152196920(+) CTCCCC/TGTTCA 1 -- us2k10--------
    rs748194271,2
    C--152196921(+) TCCCCA/GTTCAG 1 -- us2k10--------
    rs781699381,2
    C--152196924(+) CCGTTC/TAGCCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PRSS48 (152198323 - 152212605 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for PRSS48:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1003225CNV Insertion20482838
    esv1380112CNV Insertion17803354
    nsv880262CNV Gain21882294
    nsv881526CNV Gain21882294

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

    (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 PRSS48 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with PRSS48)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human and mouse proteases: a comparative genomic approach. (PubMed id 12838346)1, 2, 3 Puente X.S.... Lopez-Otin C. (Nat. Rev. Genet. 2003)
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    5. Scarface, a secreted serine protease-like protein, regulates polarized localization of laminin A at the basement membrane of the Drosophila embryo. (PubMed id 20379222)9 Sorrosal G....MilA!n M. (EMBO Rep. 2010)
    6. T-SP1: a novel serine protease-like protein predominantly expressed in testis. (PubMed id 18844450)9 Neth P....Jochum M. (Biol. Chem. 2008)
    7. Structural and functional characterization of SplA, an exclusively specific protease of Staphylococcus aureus. (PubMed id 19175361)9 Stec-Niemczyk J....Dubin G. (Biochem. J. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 345062 HGNC: 24635 AceView: ESSPL Ensembl:ENSG00000189099 euGenes: HUgn345062
    ECgene: PRSS48 H-InvDB: PRSS48

    (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)
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    NameDescription
    PharmGKB entry for PRSS48 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PRSS48 gene:
    Search GeneIP for patents involving PRSS48

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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