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

USP17L30 Gene

protein-coding   GIFtS: 23
GCID: GC04P009372          (predicted)

Ubiquitin Specific Peptidase 17-Like Family Member 30

Microbiology & Infectious Diseases Congress
  Search for USP17L30
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 17-Like Family Member 301 2     USP17K3
EC 3.4.19.123     USP17L3
USP173     USP17M3
USP17H3     Deubiquitinating Enzyme 173
USP17I3     Ubiquitin Thioesterase 173
USP17J3     Ubiquitin-Specific-Processing Protease 173

External Ids:    HGNC: 444581   Entrez Gene: 7284192   Ensembl: ENSG000002288567   UniProtKB: Q0WX573   

Export aliases for USP17L30 gene to outside databases


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

GeneCards Summary for USP17L30 Gene: 
USP17L30 (ubiquitin specific peptidase 17-like family member 30) is a protein-coding gene. An important paralog of this gene is USP17L13.

UniProtKB/Swiss-Prot: U17LO_HUMAN, Q0WX57
Function: Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different
cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell
migration, and the cellular response to viral infection




(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
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for USP17L30
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for USP17L30

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat USP17L30


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

Entrez Gene cytogenetic band: 4p16.1   Ensembl cytogenetic band:  4p16.1   HGNC cytogenetic band: 4p16.1

USP17L30 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
USP17L30 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P009372:  view genomic region     (about GC identifiers)

Start:
9,364,855 bp from pter      End:
9,366,447 bp from pter
Size:
1,593 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: U17LO_HUMAN, Q0WX57 (See protein sequence)
Recommended Name: Ubiquitin carboxyl-terminal hydrolase 17-like protein 24  
Size: 530 amino acids; 59711 Da
Subcellular location: Nucleus, nucleolus. Endoplasmic reticulum (By similarity)
Caution: The RS447 megasatellite DNA is a highly polymorphic conserved tandem repetitive sequence which contains a
copy of the USP17 gene. It is present with an interindividual variation in copy number, ranging from 20 to 103,
and can be found in the genome both on chromosome 4 and chromosome 8. The high similarity between the UPS17-like
genes makes impossible to clearly assign data to one of the genes of the family. Oligonucleotides designed in
RNAi experiments are for instance not specific of a given UPS17-like gene
Secondary accessions: A8MRA9 Q0WX56 Q3BEM1

Explore the universe of human proteins at neXtProt for USP17L30: NX_Q0WX57

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q0WX57

  • USP17L30 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    REFSEQ proteins: NP_001243796.1  
    ENSEMBL proteins: 
     ENSP00000422887  

    Human Recombinant Protein Products for USP17L30: 
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    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus ----
    GO:0005783endoplasmic reticulum ----

    USP17L30 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
    3 InterPro protein domains:
     IPR001394 Peptidase_C19
     IPR018200 Pept_C19ubi-hydrolase_C_CS
     IPR006861 HABP4_PAIRBP1-bd

    Graphical View of Domain Structure for InterPro Entry Q0WX57

    ProtoNet protein and cluster: Q0WX57

    1 Blocks protein domain: IPB001394 Ubiquitin thiolesterase

    UniProtKB/Swiss-Prot: U17LO_HUMAN, Q0WX57
    Similarity: Belongs to the peptidase C19 family. USP17 subfamily


    USP17L30 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: U17LO_HUMAN, Q0WX57
    Function: Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different
    cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell
    migration, and the cellular response to viral infection
    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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004221ubiquitin thiolesterase activity ----
    GO:0008234cysteine-type peptidase activity ----
         
    USP17L30 for ontologies           About GeneDecksing


    Animal Models:
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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 USP17L30

    5/6 Interacting proteins for USP17L30 (Q0WX573) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADAMTS1Q9UHI83I2D: score=1 
    BTF3P202903I2D: score=1 
    LGMNQ995383I2D: score=1 
    NACAP1Q9BZK33I2D: score=1 
    USP17L2Q6R6M43I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006511ubiquitin-dependent protein catabolic process ----
    GO:0006915apoptotic process ----

    USP17L30 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 USP17L30 (U17LO)

    Search CenterWatch for drugs/clinical trials and news about USP17L30 / U17LO

    (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 USP17L30 gene: 
    NM_001256867.1  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000504104
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    Browse OriGene RNAi
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat USP17L30
    Clone
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    Primer
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      Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat USP17L30
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat USP17L30

    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
    See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --

    UniProtKB/Swiss-Prot: U17LO_HUMAN, Q0WX57
    Tissue specificity: Expressed in heart, brain, liver and skeletal muscle

        SABiosciences Custom PCR Arrays for USP17L30
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP17L30

    (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 USP17L30 gene from 4/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves USP426
    Ubiquitin carboxyl-terminal hydrolase
    3(a)
    possible ortholog
    14(943568-954595)
    fruit fly
    (Drosophila melanogaster)
    Insecta scny6
    scrawny
    12(a)
    1 → many
    3L(5762223-5769371)
    worm
    (Caenorhabditis elegans)
    Secernentea E01B7.16
    Protein E01B7.1
    11(a)
    1 → many
    V(17924916-17934227)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DOA46
    UBP56
    Ubiquitin isopeptidase, required for recycling ubi...
    Putative ubiquitin-specific protease, closest para...
    9(a)
    11(a)
    many ↔ many
    many ↔ many
    IV(584939-587719)
    V(457806-460223)
            Species with no ortholog for USP17L30

    ENSEMBL Gene Tree for USP17L30 (if available)
    TreeFam Gene Tree for USP17L30 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for USP17L30 gene
    USP17L132  USP17L282  USP17L242  USP17L122  USP17L172  USP17L232  USP17L262  USP17L182  
    USP422  USP17L252  USP17L152  USP17L202  USP17L192  USP17L212  USP17L102  USP362  
    USP17L272  USP17L222  USP17L292  USP17L52  USP17L22  USP17L112  
    18/24 SIMAP similar genes for USP17L30 using alignment to 1 protein entry:     U17LO_HUMAN(see all similar genes):
    USP17L11    USP17L17    USP17L19    USP17L20    USP17L22    USP17L23
    USP17L5    USP17L6    USP17L12    USP17L13    USP17L15    USP17L18
    USP17L21    USP17L10    USP17L2    USP17L1P    USP17L3    USP17L4

    USP17L30 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

    10/54 SNPs in USP17L30 are shown (see all 54)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1511051921,2
    C--9364529(+) CCCGGA/TTACAC 1 -- us2k10--------
    rs2017668341,2
    F--9365667(+) CACACC/TTCTGC 2 T syn11Minor allele frequency- T:0.10EU 161
    rs1500806721,2
    C,F--9365783(+) TCAGCA/CGAACA 2 Q P mis11Minor allele frequency- C:0.38EU 129
    rs1469918661,2
    C,F--9366088(+) GAGACC/TACCCC 2 H Y mis11Minor allele frequency- T:0.03EU 149
    rs1431913741,2
    C,F--9366297(+) CCTGAA/GCAGCA 2 E syn11Minor allele frequency- G:0.01EU 401
    rs1482651291,2
    C,F--9366314(+) CCTGCT/AAAACC 2 /Q /L mis11Minor allele frequency- A:0.01EU 355
    rs1418473811,2
    C,F--9366328(+) CTTCGA/TCGACC 2 T S mis11Minor allele frequency- T:0.10EU 225
    rs1996386031,2
    F--9366333(+) TCGACC/ACCGAC 2 /T syn11Minor allele frequency- A:0.06EU 103
    rs2022202201,2
    ----9364423(+) ACACAA/CACACA 1 -- us2k10--------
    rs1459049511,2
    ----9366706(+) CGAAC-/CTCTGG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for USP17L30 (9364855 - 9366447 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for USP17L30: --
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing USP17L30
    DNA2.0 Custom Variant and Variant Library Synthesis for USP17L30

    (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
      --

    (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 USP17L30 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with USP17L30)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DUB/USP17 deubiquitinating enzymes: a gene family within a tandemly repeated sequence, is also embedded within the copy number var iable beta-defensin cluster. (PubMed id 20403174)1, 2 Burrows J.F....Johnston J.A. (2010)
    2. Hyaluronan- and RNA-binding deubiquitinating enzymes of USP17 family members associated with cell viability. (PubMed id 17109758)1, 2 Shin J.-M.... Baek K.-H. (2006)
    3. The DUB/USP17 deubiquitinating enzymes, a multigene family within a tandemly repeated sequence. (PubMed id 15780755)1, 2 Burrows J.F.... Johnston J.A. (2005)
    4. Unstable transmission of the RS447 human megasatellite tandem repetitive sequence that contains the USP17 deubiquitinating enzyme gene. (PubMed id 11941478)1, 2 Okada T.... Ikeda J.E. (2002)
    5. The RS447 human megasatellite tandem repetitive sequence encodes a novel deubiquitinating enzyme with a functional promoter. (PubMed id 10936051)1, 2 Saitoh Y.... Ikeda J.-E. (2000)
    6. The deubiquitinating enzyme USP17 is essential for GT Pase subcellular localization and cell motility. (PubMed id 21448158)1 de la Vega M....Johnston J.A. (2011)
    7. Lys-63-specific deubiquitination of SDS3 by USP17 reg ulates HDAC activity. (PubMed id 21239494)1 Ramakrishna S....Baek K.H. (2011)
    8. The deubiquitinating enzyme USP17 is highly expressed in tumor biopsies, is cell cycle regulated, and is required for G1-S progressi on. (PubMed id 20388806)1 McFarlane C....Johnston J.A. (2010)
    9. Polyclonal and monoclonal antibodies specific for USP1 7, a proapoptotic deubiquitinating enzyme. (PubMed id 20715989)1 Ramakrishna S....Baek K.H. (2010)
    10. Cdc25A and Dub3 in a high-stakes balancing act. (PubMed id 20228807)1 Hayes S.D. and Harper J.W. (2010)

    (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: 728419 HGNC: 44458 Ensembl:ENSG00000228856 euGenes: HUgn728419 ECgene: USP17L30
    H-InvDB: USP17L30

    (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 USP17L30 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 USP17L30 gene:
    Search GeneIP for patents involving USP17L30

    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)
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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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