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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PRSS56 Gene

protein-coding   GIFtS: 34
GCID: GC02P233389

Protease, Serine, 56

  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)
About This Section

Aliases
Protease, Serine, 561 2
MCOP62
Putative Serine Protease 562
Serine Protease 562
EC 3.4.21.-3

External Ids:    HGNC: 394331   Entrez Gene: 6469602   Ensembl: ENSG000002374127   OMIM: 6138585   UniProtKB: P0CW183   

Export aliases for PRSS56 gene to outside databases

Previous GC identifer: GC02U902398


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PRSS56 Gene:
This gene encodes a protein that contains a peptidase S1 domain and possesses trypsin-like serine protease
activity. The encoded protein may play a role in eye development, and mutations in this gene are a cause of
autosomal recessive posterior microphthalmos. (provided by RefSeq, Dec 2011)

GeneCards Summary for PRSS56 Gene: 
PRSS56 (protease, serine, 56) is a protein-coding gene. Diseases associated with PRSS56 include amblyopia, and hyperopia. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is CFI.

UniProtKB/Swiss-Prot: PRS56_HUMAN, P0CW18
Function: Serine protease required during eye development




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_005403.17  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for PRSS56
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for PRSS56

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRSS56


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

Entrez Gene cytogenetic band: 2q37.1   Ensembl cytogenetic band:  2q37.1   HGNC cytogenetic band: 2q37.1

PRSS56 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRSS56 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P233389:  view genomic region     (about GC identifiers)

Start:
233,385,173 bp from pter      End:
233,390,426 bp from pter
Size:
5,254 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PRS56_HUMAN, P0CW18 (See protein sequence)
Recommended Name: Serine protease 56 precursor  
Size: 603 amino acids; 64597 Da

Explore the universe of human proteins at neXtProt for PRSS56: NX_P0CW18

PRSS56 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --

REFSEQ proteins: NP_001182058.1  
ENSEMBL proteins: 
 ENSP00000473410  

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005783endoplasmic reticulum ISS--

PRSS56 for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
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 P0CW18

ProtoNet protein and cluster: P0CW18

UniProtKB/Swiss-Prot: PRS56_HUMAN, P0CW18
Similarity: Belongs to the peptidase S1 family
Similarity: Contains 1 peptidase S1 domain


PRSS56 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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: PRS56_HUMAN, P0CW18
Function: Serine protease required during eye development

     Enzyme Number (IUBMB): EC 3.4.21.-1

     Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003824catalytic activity ----
GO:0004252serine-type endopeptidase activity ISS--
     
PRSS56 for ontologies           About GeneDecksing


Phenotypes:
     2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Prss56):
 nervous system  vision/eye 

PRSS56 for phenotypes           About GeneDecksing

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(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PRSS56

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006508proteolysis ISS--
GO:0043010camera-type eye development IMP--

PRSS56 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
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Browse Tocris compounds for PRSS56 (PRS56)

Search CenterWatch for drugs/clinical trials and news about PRSS56 / PRS56

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PRSS56 gene: 
NM_001195129.1  

Unigene Cluster for PRSS56:

Protease, serine, 56
Hs.570310  [show with all ESTs]
Unigene Representative Sequence: NM_001195129
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000449534(uc021vyh.1) ENST00000602410
miRNA
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3 DOTS entries:

DT.120950285  DT.95069235  DT.99949395 

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PRSS56 expression in normal human tissues (normalized intensities)      PRSS56 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TCTGGGCCCC
PRSS56 Expression
About this image


PRSS56 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/1 selected tissues (see all 1) fully expand
 
 Bone (Muscoskeletal System)
         Zeugopod Growth Plate

SOURCE GeneReport for Unigene cluster: Hs.570310

UniProtKB/Swiss-Prot: PRS56_HUMAN, P0CW18
Tissue specificity: Expressed neural retina, cornea, sclera and optic nerve

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRSS56

(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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for PRSS56 gene from 5/11 species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Prss561 , 5 protease, serine 561, 5 79.9(n)1
79.73(a)1
  1 (44.07 cM)5
694531  NM_027084.11  NP_081360.11 
 871833135 
chicken
(Gallus gallus)
Aves PRSS561 protease, serine, 56 61.39(n)
53.27(a)
  424939  XM_422746.3  XP_422746.3 
lizard
(Anolis carolinensis)
Reptilia PRSS566
protease, serine, 56
56(a)
1 ↔ 1
GL343304.1(248619-293623)
zebrafish
(Danio rerio)
Actinopterygii LOC5635281 novel protein with Trypsin domain 57.23(n)
50.12(a)
  563528  XM_686892.5  XP_691984.5 
fruit fly
(Drosophila melanogaster)
Insecta CG187351 CG18735 49.05(n)
43.5(a)
  59137  NM_144388.1  NP_652645.1 


ENSEMBL Gene Tree for PRSS56 (if available)
TreeFam Gene Tree for PRSS56 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for PRSS56 gene
CFI2  ACR2  CORIN2  TMPRSS122  
18/61 SIMAP similar genes for PRSS56 using alignment to 2 protein entries:     PRS56_HUMAN (see all proteins) (see all similar genes):
F12    CTRB2    CTRB1    DESC1    PRSS42    TMPRSS11E
TPSG1    CTRL    DKFZp586F0824    DKFZp779M0222    ST14    TMPRSS11B
TMPRSS11F    TMPRSS12    TMPRSS3    CELA3A    TMPRSS5    CTRC

PRSS56 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/105 SNPs in PRSS56 are shown (see all 105)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0692284
Microphthalmia, isolated, 6 (MCOP6)4--see VAR_0692282 G R mis40--------
VAR_0650764
Microphthalmia, isolated, 6 (MCOP6)4--see VAR_0650762 R G mis40--------
VAR_0692304
Microphthalmia, isolated, 6 (MCOP6)4--see VAR_0692302 P A mis40--------
VAR_0692294
Microphthalmia, isolated, 6 (MCOP6)4--see VAR_0692292 C R mis40--------
VAR_0650774
Microphthalmia, isolated, 6 (MCOP6)4--see VAR_0650772 W S mis40--------
VAR_0692274
Microphthalmia, isolated, 6 (MCOP6)4--see VAR_0692272 V F mis40--------
VAR_0692264
Microphthalmia, isolated, 6 (MCOP6)4--see VAR_0692262 G R mis40--------
rs49730451,2
C--232755899(+) GTTGTG/ATTACA 1 -- us2k12Minor allele frequency- A:0.18WA EA 122
rs26978001,2
C,F,H--232756052(-) GCACAG/AGTTAC 1 -- us2k122Minor allele frequency- A:0.20NS EA NA WA 2758
rs1449734011,2
C--232756057(+) CTGTGC/TGAGCG 1 -- us2k10--------

HapMap Linkage Disequilibrium report for PRSS56 (233385173 - 233390426 bp)

Structural Variations
     Database of Genomic Variants (DGV) 9 variations for PRSS56:    About this table     
Variant IDTypeSubtypePubMed ID
nsv3211CNV Insertion18451855
dgv4453n71CNV Loss21882294
nsv527789CNV Loss19592680
nsv875977CNV Loss21882294
nsv875998CNV Loss21882294
nsv522450CNV Loss19592680
dgv4454n71CNV Loss21882294
nsv821918CNV Gain20364138
nsv876000CNV Gain21882294


Human Gene Mutation Database (HGMD): PRSS56
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 613858    OMIM disorders: --

UniProtKB/Swiss-Prot: PRS56_HUMAN, P0CW18
  • Microphthalmia, isolated, 6 (MCOP6) [MIM:613517]: A developmental ocular disorder characterized by small
    malformed eyes. Clinical features are extreme hyperopia due to short axial length with essentially normal
    anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall.
    Palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately
    reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical disks,
    tortuous vessels, and an abnormal foveal avascular zone. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 4 diseases for PRSS56:    About MalaCards
    amblyopia    hyperopia    microphthalmia    glaucoma


    PRSS56 for disorders           About GeneDecksing


    Export disorders for PRSS56 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)
    About This Section

    PubMed articles for PRSS56 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with PRSS56)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Alteration of the serine protease PRSS56 causes angle -closure glaucoma in mice and posterior microphthalmia in humans and mice. (PubMed id 21532570)1, 2, 3 Nair K.S....John S.W. (2011)
    2. Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease. (PubMed id 21397065)1, 2, 3 Gal A.... Rosenberg T. (2011)
    3. Mutations in a novel serine protease PRSS56 in famili es with nanophthalmos. (PubMed id 21850159)1, 2 Orr A....Samuels M.E. (2011)
    4. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1, 2 Brandenberger R.... Stanton L.W. (2004)
    5. Genome-wide meta-analyses of multiancestry cohorts ide ntify multiple new susceptibility loci for refractive error and myopia. (PubMed id 23396134)1 Verhoeven V.J....Hammond C.J. (2013)
    6. Biometric and molecular characterization of clinically diagnosed posterior microphthalmos. (PubMed id 23127749)1 Nowilaty S.R....Alkuraya F.S. (2013)
    7. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    8. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 646960 HGNC: 39433 Ensembl:ENSG00000237412 euGenes: HUgn646960 ECgene: PRSS56
    H-InvDB: PRSS56

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PRSS56 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PRSS56 gene:
    Search GeneIP for patents involving PRSS56

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
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