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USP47 Gene

protein-coding   GIFtS: 55
GCID: GC11P011819

Ubiquitin Specific Peptidase 47

(Previous names: Trf (TATA binding protein-related factor)-proximal homolog...)
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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
Ubiquitin Specific Peptidase 471 2     TRFP2
Deubiquitinating Enzyme 472 3     Trf (TATA Binding Protein-Related Factor)-Proximal Homolog2
Ubiquitin Thioesterase 472 3     Ubiquitin Carboxyl-Terminal Hydrolase 472
Ubiquitin-Specific-Processing Protease 472 3     Ubiquitin Thiolesterase 472
Trf (TATA Binding Protein-Related Factor)-Proximal Homolog (Drosophila)1     EC 3.4.19.123
Ubiquitin Specific Protease 471     

External Ids:    HGNC: 200761   Entrez Gene: 550312   Ensembl: ENSG000001702427   OMIM: 6144605   UniProtKB: Q96K763   

Export aliases for USP47 gene to outside databases

Previous GC identifers: GC11P011902 GC11P011827 GC11P011538


(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 USP47 Gene:
USP47 (ubiquitin specific peptidase 47) is a protein-coding gene. GO annotations related to this gene include WD40-repeat domain binding and ubiquitin thiolesterase activity. An important paralog of this gene is USP24.

UniProtKB/Swiss-Prot: UBP47_HUMAN, Q96K76
Function: Ubiquitin-specific protease that specifically deubiquitinates monoubiquitinated DNA polymerase beta
(POLB), stabilizing POLB thereby playing a role in base-excision repair (BER). Acts as a regulator of cell growth
and genome integrity. May also indirectly regulates CDC25A expression at a transcriptional level

Gene Wiki entry for USP47 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 at NCBI GenBank:
NC_000011.9  NT_009237.19  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the USP47 gene promoter:
         Lmo2   FOXD3   HNF-3beta   GATA-1   HNF-1A   Egr-2   GATA-6   HNF-1   Sox9   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): USP47 promoter sequence
   Search Chromatin IP Primers for USP47

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat USP47


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

Entrez Gene cytogenetic band: 11p15.3   Ensembl cytogenetic band:  11p15.3   HGNC cytogenetic band: 11p15.2

USP47 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
USP47 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P011819:  view genomic region     (about GC identifiers)

Start:
11,862,970 bp from pter      End:
11,980,872 bp from pter
Size:
117,903 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: UBP47_HUMAN, Q96K76 (See protein sequence)
Recommended Name: Ubiquitin carboxyl-terminal hydrolase 47  
Size: 1375 amino acids; 157311 Da
Subunit: Interacts with BTRC and FBXW11. Interacts with POLB
Caution: Was initially thought to catalytically inactive (PubMed:14715245). However, it was later shown that it is
active (PubMed:21362556)
Sequence caution: Sequence=BAA91348.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B3KXF5 Q658U0 Q86Y73 Q8TEP6 Q9BWI0 Q9NWN1
Alternative splicing: 3 isoforms:  Q96K76-1   Q96K76-2   Q96K76-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for USP47: NX_Q96K76

Explore proteomics data for USP47 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys122, Lys660, Lys1274
  • Modification sites at PhosphoSitePlus

  • See USP47 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001269588.1  NP_060414.3  

    ENSEMBL proteins: 
     ENSP00000339957   ENSP00000433146   ENSP00000382382   ENSP00000440405  

    USP47 Human Recombinant Protein Products:

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    Novus Biologicals USP47 Proteins
    Browse Sino Biological Recombinant Proteins
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for USP47

     
    Search eBioscience for Proteins for USP47 

     
    antibodies-online proteins for USP47 (4 products) 

     
    antibodies-online peptides for USP47

    USP47 Antibody Products:

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    USP47 Assay Products:

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    Cloud-Clone Corp. CLIAs for USP47
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    antibodies-online kits for USP47 (6 products) 


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

    3 InterPro protein domains:
     IPR001394 Peptidase_C19_UCH
     IPR018200 Pept_C19ubi-hydrolase_C_CS
     IPR028889 UCH/PAN2

    Graphical View of Domain Structure for InterPro Entry Q96K76

    ProtoNet protein and cluster: Q96K76

    1 Blocks protein domain: IPB001394 Ubiquitin thiolesterase

    UniProtKB/Swiss-Prot: UBP47_HUMAN, Q96K76
    Similarity: Belongs to the peptidase C19 family
    Similarity: Contains 1 USP domain


    Find genes that share domains with USP47           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UBP47_HUMAN, Q96K76
    Function: Ubiquitin-specific protease that specifically deubiquitinates monoubiquitinated DNA polymerase beta
    (POLB), stabilizing POLB thereby playing a role in base-excision repair (BER). Acts as a regulator of cell growth
    and genome integrity. May also indirectly regulates CDC25A expression at a transcriptional level
    Catalytic activity: Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by
    the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal)

         Enzyme Number (IUBMB): EC 3.4.19.121

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004221ubiquitin thiolesterase activity ----
    GO:0004843ubiquitin-specific protease activity IDA--
    GO:0005515protein binding IPI--
    GO:0008234cysteine-type peptidase activity ----
    GO:0071987WD40-repeat domain binding IPI19966869
         
    Find genes that share ontologies with USP47           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Usp47):
     cellular 

    Find genes that share phenotypes with USP47           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for USP47

    miRNA
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    miRTarBase miRNAs that target USP47:
    hsa-mir-21-5p (MIRT030994), hsa-mir-124-3p (MIRT022888), hsa-mir-34a-5p (MIRT025520)

    Block miRNA regulation of human, mouse, rat USP47 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate USP47 (see all 127):
    hsa-miR-124* hsa-miR-411* hsa-miR-26a-2* hsa-miR-188-5p hsa-miR-146a hsa-miR-30d hsa-miR-374a hsa-miR-10b*
    SwitchGear 3'UTR luciferase reporter plasmidUSP47 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat USP47

    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP47


    (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
    UBP47_HUMAN, Q96K76: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytoskeleton2
    cytosol1
    golgi apparatus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0019005SCF ubiquitin ligase complex IDA19966869

    Find genes that share ontologies with USP47           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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    SuperPaths for USP47 About    
    See pathways by source

    SuperPathContained pathways About
    1Ubiquitin-Proteasome Dependent Proteolysis
    Ubiquitin-Proteasome Dependent Proteolysis

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for USP47
        Ubiquitin-Proteasome Dependent Proteolysis


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for USP47
    Interactions:

        Search GeneGlobe Interaction Network for USP47

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for USP47 (Q96K763 ENSP000003399574) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BTRCQ9Y2973, ENSP000003592064I2D: score=2 STRING: ENSP00000359206
    FBXW11Q9UKB13, ENSP000002650944I2D: score=2 STRING: ENSP00000265094
    MED29Q9NX703, ENSP000003143434I2D: score=1 STRING: ENSP00000314343
    MED9Q9NWA03, ENSP000002687114I2D: score=1 STRING: ENSP00000268711
    SEP15O606133I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006284base-excision repair IMP--
    GO:0006511ubiquitin-dependent protein catabolic process IEA--
    GO:0006974cellular response to DNA damage stimulus IMP--
    GO:0010972negative regulation of G2/M transition of mitotic cell cycle IMP19966869
    GO:0030307positive regulation of cell growth IMP19966869

    Find genes that share ontologies with USP47           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 USP47 (UBP47)

    1 HMDB Compound for USP47    About this table
    CompoundSynonyms CAS #PubMed Ids
    WaterDihydrogen oxide (see all 2)7732-18-5--



    (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 USP47 gene (2 alternative transcripts): 
    NM_001282659.1  NM_017944.3  

    Unigene Cluster for USP47:

    Ubiquitin specific peptidase 47
    Hs.577256  [show with all ESTs]
    Unigene Representative Sequence: NM_017944
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000339865(uc001mjq.1 uc001mjr.3 uc001mjs.3) ENST00000525257
    ENST00000527733 ENST00000399455(uc009ygi.3) ENST00000525367 ENST00000525078
    ENST00000531513 ENST00000530041 ENST00000530369 ENST00000305481 ENST00000529813
    ENST00000539466(uc001mjt.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat USP47 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate USP47 (see all 127):
    hsa-miR-124* hsa-miR-411* hsa-miR-26a-2* hsa-miR-188-5p hsa-miR-146a hsa-miR-30d hsa-miR-374a hsa-miR-10b*
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      QuantiTect SYBR Green Assays in human, mouse, rat USP47
      QuantiFast Probe-based Assays in human, mouse, rat USP47

    Additional mRNA sequence: 

    AB073355.1 AF059318.1 AK000734.1 AK027283.1 AK027362.1 AK074076.1 AK092290.1 AK093714.1 
    AK127264.1 AK225358.1 AL832991.2 BC000226.1 BC017795.1 BC030562.1 BC047044.1 BC071559.1 

    20 DOTS entries:

    DT.40196938  DT.100819188  DT.99941076  DT.97779608  DT.100819186  DT.95275974  DT.120734868  DT.40108888 
    DT.100819187  DT.75162034  DT.92442587  DT.99955310  DT.100819190  DT.120734790  DT.86852533  DT.92442592 
    DT.95275978  DT.120734789  DT.91736526  DT.95275975 

    Selected AceView cDNA sequences (see all 263):

    AK092290 AA037815 AI824461 BX284027 AL832991 BM719166 BM683122 AI917095 
    CB161339 AI225125 BM797971 AW103221 BU542376 AI391561 BE463882 AW169709 
    BI254736 AI672221 AI276944 AA678826 AA737766 AA583318 CA397431 AA704417 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for USP47 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ·
    SP1:                    -     -     -           -                                                                                                               
    SP2:                                            -                                                                                                               
    SP3:                                                                                                                                                            
    SP4:                    -                       -                                                                                                               
    SP5:                                                                                                                                                            

    ExUns: 21c ^ 22 ^ 23a · 23b · 23c ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31
    SP1:        -                 -           -                             -     -                           
    SP2:                                                                                                      
    SP3:                                                                    -                                 
    SP4:                                                                                                      
    SP5:                          -           -                                                               


    ECgene alternative splicing isoforms for USP47

    (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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    USP47 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGTGCACTA
    USP47 Expression
    About this image


    USP47 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    USP47 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    USP47 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.577256

    UniProtKB/Swiss-Prot: UBP47_HUMAN, Q96K76
    Tissue specificity: Expressed in skeletal muscle, heart and testis

        Custom PCR Arrays for USP47
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP47

    (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 animals and fungi.

    Orthologs for USP47 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Usp471 , 5 ubiquitin specific peptidase 471, 5 89.54(n)1
    95.06(a)1
      7 (58.74 cM)5
    749961  NM_177249.31  NP_796223.21 
     1120235065 
    chicken
    (Gallus gallus)
    Aves USP471 ubiquitin specific peptidase 47 83.22(n)
    90.7(a)
      423032  NM_001199582.1  NP_001186511.1 
    lizard
    (Anolis carolinensis)
    Reptilia USP476
    ubiquitin specific peptidase 47
    83(a)
    1 ↔ 1
    GL343237.1(475646-541951)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL852749.22   -- 75.12(n)    AL852749.2 
    zebrafish
    (Danio rerio)
    Actinopterygii CF265902.12   -- 75.14(n)    CF265902.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ubp64E1 Ubiquitin-specific protease 64E 49.66(n)
    46.14(a)
      38644  NM_206279.3  NP_996001.2 
    worm
    (Caenorhabditis elegans)
    Secernentea T05H10.16
    Protein T05H10.1 (T05H10.1) mRNA, complete cds
    30(a)
    1 → many
    II(8042589-8047446) WBGene00011507
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UBP156
    Ubiquitin-specific protease involved in protein de...
    16(a)
    1 → many
    XIII(874987-878679) YMR304W


    ENSEMBL Gene Tree for USP47 (if available)
    TreeFam Gene Tree for USP47 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for USP47 gene
    USP242  USP182  USP482  USP412  USP402  USP72  USP342  USP9Y2  
    USP9X2  
    2 SIMAP similar genes for USP47 using alignment to 3 protein entries:     UBP47_HUMAN (see all proteins):
    DKFZp686C13257    USP40

    Find genes that share paralogs with USP47           About GenesLikeMe



    (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 USP47 (see all 2211)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs618706741,2
    --11861170(+) TCTTTC/TTATAT 1 -- us2k10--------
    rs1911330741,2
    --11861208(+) AATCTA/TACTTA 1 -- us2k10--------
    rs1456397461,2
    --11861487(+) TGACAC/TTTTTA 1 -- us2k10--------
    rs1481027211,2
    --11861608(+) TGATGC/GAAAAA 1 -- us2k10--------
    rs9964281,2
    C,F,A,H--11861678(+) AAACCG/ATTCAC 1 -- us2k110Minor allele frequency- A:0.24NS EA NA WA 782
    rs357745541,2
    C--11861702(+) TTTAAG/-GGGGG 1 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs79248251,2
    C,F,H--11861794(+) ataatC/Gaaaat 1 -- us2k15Minor allele frequency- G:0.02NS EA WA 538
    rs1807961551,2
    --11861913(+) CCAAAA/GAGCTT 1 -- us2k10--------
    rs1410106321,2
    --11862076(+) TAAATC/GGTTCT 1 -- us2k10--------
    rs110220661,2
    C,F,A,H--11862213(+) TCAGAT/CATTTT 1 -- us2k1 tfbs316Minor allele frequency- C:0.13NS EA NA 2114

    HapMap Linkage Disequilibrium report for USP47 (11862970 - 11980872 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for USP47 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2668480CNV Deletion23128226
    nsv821457CNV Deletion20802225
    esv2744114CNV Deletion23290073
    nsv7681CNV Loss18451855
    nsv512212CNV Loss21212237
    nsv511478CNV Loss21212237
    nsv896993CNV Loss21882294
    nsv524777CNV Loss19592680
    nsv483000CNV Loss15286789
    nsv832067CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing USP47
    DNA2.0 Custom Variant and Variant Library Synthesis for USP47

    (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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    OMIM gene information: 614460    OMIM disorders: --


    Find genes that share disorders with USP47           About GenesLikeMe

    Genetic Association Database (GAD): USP47
    Human Genome Epidemiology (HuGE) Navigator: USP47 (1 document)

    Export disorders for USP47 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 USP47 gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with USP47)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. USP47 is a deubiquitylating enzyme that regulates base excision repair by controlling steady-state levels of DNA Polymerase beta. (PubMed id 21362556)1, 2 Parsons J.L.... Dianov G.L. (Mol. Cell 2011)
    2. The ubiquitin-specific protease USP47 is a novel beta-TRCP interactor regulating cell survival. (PubMed id 19966869)1, 2 Peschiaroli A.... Melino G. (Oncogene 2010)
    3. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. 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)
    6. Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases. (PubMed id 14715245)1, 2 Quesada V.... Lopez-Otin C. (Biochem. Biophys. Res. Commun. 2004)
    7. Human and mouse proteases: a comparative genomic approach. (PubMed id 12838346)1, 3 Puente X.S.... Lopez-Otin C. (Nat. Rev. Genet. 2003)
    8. USP47 and C terminus of Hsp70-interacting protein (CHIP) antagonistically regulate katanin-p60-mediated axonal growth. (PubMed id 23904609)1 Yang S.W....Chung C.H. (J. Neurosci. 2013)
    9. The functional interactome landscape of the human histone deacetylase family. (PubMed id 23752268)1 Joshi P....Cristea I.M. (Mol. Syst. Biol. 2013)
    10. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)

    (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: 55031 HGNC: 20076 AceView: USP47 Ensembl:ENSG00000170242 euGenes: HUgn55031
    ECgene: USP47 H-InvDB: USP47

    (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 USP47 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 USP47 gene:
    Search GeneIP for patents involving USP47

    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, eBioscience, antibodies-online, 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
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