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

USP50 Gene

protein-coding   GIFtS: 39
GCID: GC15M050792

Ubiquitin Specific Peptidase 50

(Previous name: ubiquitin specific protease 50)
  Search for USP50
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
Ubiquitin Specific Peptidase 501 2
Ubiquitin Specific Protease 501 2
Inactive Ubiquitin-Specific Peptidase 502 3
Inactive Ubiquitin Carboxyl-Terminal Hydrolase 502

External Ids:    HGNC: 200791   Entrez Gene: 3735092   Ensembl: ENSG000001702367   UniProtKB: Q70EL33   

Export aliases for USP50 gene to outside databases

Previous GC identifers: GC15U900216 GC15M048580 GC15M027623


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

GeneCards Summary for USP50 Gene: 
USP50 (ubiquitin specific peptidase 50) is a protein-coding gene. GO annotations related to this gene include ubiquitin thiolesterase activity. An important paralog of this gene is USP33.

UniProtKB/Swiss-Prot: UBP50_HUMAN, Q70EL3
Function: Has no peptidase activity




(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_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the USP50 gene promoter:
         Nkx3-1 v4   RFX1   AML1a   Cdc5   HNF-1A   Nkx3-1 v2   HEN1   HNF-1   Nkx3-1 v3   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUSP50 promoter sequence
   Search SABiosciences Chromatin IP Primers for USP50

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat USP50


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

Entrez Gene cytogenetic band: 15q21.1   Ensembl cytogenetic band:  15q21.2   HGNC cytogenetic band: 15q21.1

USP50 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
USP50 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M050792:  view genomic region     (about GC identifiers)

Start:
50,792,759 bp from pter      End:
50,838,905 bp from pter
Size:
46,147 bases      Orientation:
minus 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: UBP50_HUMAN, Q70EL3 (See protein sequence)
Recommended Name: Inactive ubiquitin carboxyl-terminal hydrolase 50  
Size: 339 amino acids; 38955 Da
Caution: Although the active site residues are conserved, lacks the conserved Asp/Asn residue which is normally
found 7-9 residues after the catalytic His

Explore the universe of human proteins at neXtProt for USP50: NX_Q70EL3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q70EL3

  • USP50 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    REFSEQ proteins: NP_987090.2  
    ENSEMBL proteins: 
     ENSP00000434676   ENSP00000453946   ENSP00000434014  

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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: 
    USP: Ubiquitin-specific peptidases

    2 InterPro protein domains:
     IPR001394 Peptidase_C19
     IPR018200 Pept_C19ubi-hydrolase_C_CS

    Graphical View of Domain Structure for InterPro Entry Q70EL3

    ProtoNet protein and cluster: Q70EL3

    UniProtKB/Swiss-Prot: UBP50_HUMAN, Q70EL3
    Similarity: Belongs to the peptidase C19 family


    USP50 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: UBP50_HUMAN, Q70EL3
    Function: Has no peptidase activity

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004221ubiquitin thiolesterase activity IEA--
         
    USP50 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Usp50 (no phenotypes)

    USP50 for phenotypes           About GeneDecksing

    Animal Models:
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    Inhib. RNA
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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 USP50

    5/23 Interacting proteins for USP50 (Q70EL33) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABCD3P282883I2D: score=1 
    ABCE1P612213I2D: score=1 
    ACADMP113103I2D: score=1 
    AFG3L2Q9Y4W63I2D: score=1 
    ALDH3A2P516483I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006511ubiquitin-dependent protein catabolic process IEA--

    USP50 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for USP50 (UBP50)

    Search CenterWatch for drugs/clinical trials and news about USP50 / UBP50

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 USP50 gene: 
    NM_203494.4  

    Unigene Cluster for USP50:

    Ubiquitin specific peptidase 50
    Hs.677758  [show with all ESTs]
    Unigene Representative Sequence: NM_203494
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000532404(uc021skx.1 uc021sky.1) ENST00000559105 ENST00000530218
    ENST00000529349
    miRNA
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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate USP50:
    hsa-miR-345 hsa-miR-885-3p hsa-miR-330-3p hsa-miR-1299 hsa-miR-216a
    SwitchGear 3'UTR luciferase reporter plasmidUSP50 3' UTR sequence
    Inhib. RNA
    Products:
         
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    OriGene RNAi products in human, mouse, rat for USP50
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USP50
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat USP50
    Sirion Biotech Customized lentivirus for stable overexpression of USP50 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat USP50

    Additional mRNA sequence: AJ583818.2 

    2 DOTS entries:

    DT.102841822  DT.121045188 

    7 AceView cDNA sequences:

    NM_203494 BE832280 BN000339 AJ583818 AI990110 AI990671 BE832251 

    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

    USP50 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    USP50 Expression
    About this image


    SOURCE GeneReport for Unigene cluster: Hs.677758

    UniProtKB/Swiss-Prot: UBP50_HUMAN, Q70EL3
    Tissue specificity: Weakly expressed in a few tissues

        SABiosciences Custom PCR Arrays for USP50
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat USP50
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP50

    (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 and fungi.

    Orthologs for USP50 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Usp501 , 5 ubiquitin specific peptidase 501, 5 79.17(n)1
    78.96(a)1
      2 (61.76 cM)5
    750831  NM_029163.31  NP_083439.21 
     1267090965 
    lizard
    (Anolis carolinensis)
    Reptilia USP506
    Uncharacterized protein
    42(a)
    1 ↔ 1
    GL343747.1(95075-101260)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UBP56
    DOA46
    Putative ubiquitin-specific protease, closest para...
    Ubiquitin isopeptidase, required for recycling ubi...
    12(a)
    11(a)
    many ↔ many
    many ↔ many
    V(457806-460223)
    IV(584939-587719)


    ENSEMBL Gene Tree for USP50 (if available)
    TreeFam Gene Tree for USP50 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for USP50 gene
    USP332  USP212  USP82  USP22  USP202  
    3 SIMAP similar genes for USP50 using alignment to 5 protein entries:     UBP50_HUMAN (see all proteins):
    USP15    USP8    USP11

    USP50 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

    10/1037 SNPs in USP50 are shown (see all 1037)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs667311871,2
    C--30872077(+) AAAAA-/A/AA  
            
    GAGTG
    1 -- int12NA 4
    rs1130949921,2
    F--50793801(+) AGGGGA/GCTATG 1 -- int11Minor allele frequency- G:0.00CSA 1
    rs1430284191,2
    --50793971(+) GGCCCA/GTGGGT 1 -- int10--------
    rs1838305701,2
    --50793995(+) TTTTTC/GTAAGA 1 -- int10--------
    rs783980671,2
    F--50794058(+) AAGTAA/TTAATA 1 -- int11Minor allele frequency- T:0.03WA 118
    rs1885518721,2
    --50794189(+) AAACTA/GAATAG 1 -- int10--------
    rs1813556411,2
    --50794367(+) TGGCAC/TGATCT 1 -- int10--------
    rs1413928801,2
    C--50794568(+) CAAAG-/TTAT  
            
    TTATT
    1 -- int10--------
    rs1860149621,2
    --50794568(+) CAAAGC/TTATTT 1 -- int10--------
    rs1903829491,2
    --50794639(+) CAGCTC/TACCAC 1 -- int10--------

    HapMap Linkage Disequilibrium report for USP50 (50792759 - 50838905 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for USP50:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv524613CNV Loss19592680
    dgv317n27CNV Gain19166990
    nsv471242CNV Gain18288195

    SABiosciences Cancer Mutation PCR Assays
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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

    USP50 for disorders           About MalaCards

    USP50 for disorders           About GeneDecksing

    Genetic Association Database (GAD): USP50
    Human Genome Epidemiology (HuGE) Navigator: USP50 (1 document)

    Export disorders for USP50 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 USP50 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with USP50)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    2. A genomic analysis of rat proteases and protease inhibitors. (PubMed id 15060002)1, 2 Puente X.S. and Lopez-Otin C. (2004)
    3. Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases. (PubMed id 14715245)1, 2 Quesada V.... Lopez-Otin C. (2004)
    4. Human and mouse proteases: a comparative genomic approach. (PubMed id 12838346)1, 3 Puente X.S.... Lopez-Otin C. (2003)
    5. A screen for deubiquitinating enzymes involved in the Ga88/M checkpoint identifies USP50 as a regulator of HSP90-dependent Wee1 stabil ity. (PubMed id 20930503)1 Aressy B....Ducommun B. (2010)
    6. Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)

    (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: 373509 HGNC: 20079 AceView: USP50 Ensembl:ENSG00000170236 euGenes: HUgn373509
    ECgene: USP50 H-InvDB: USP50

    (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 USP50 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 USP50 gene:
    Search GeneIP for patents involving USP50

    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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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
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