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

USP30 Gene

protein-coding   GIFtS: 54
GCID: GC12P109460

Ubiquitin Specific Peptidase 30

(Previous name: ubiquitin specific protease 30)
  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
Ubiquitin Specific Peptidase 301 2     Ubiquitin Carboxyl-Terminal Hydrolase 302
Ubiquitin Specific Protease 301 2     Ubiquitin Thiolesterase 302
Deubiquitinating Enzyme 302 3     Ubiquitin-Specific Protease 302
Ub-Specific Protease 302 3     EC 3.4.19.123
Ubiquitin Thioesterase 302 3     EC 3.1.2.158
Ubiquitin-Specific-Processing Protease 302 3     

External Ids:    HGNC: 200651   Entrez Gene: 847492   Ensembl: ENSG000001350937   OMIM: 6124925   UniProtKB: Q70CQ33   

Export aliases for USP30 gene to outside databases

Previous GC identifers: GC12P109354 GC12P107953 GC12P106508


(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 USP30 Gene:
USP30, a member of the ubiquitin-specific protease family (see USP1, MIM 603478), is a novel mitochondrial
deubiquitinating (DUB) enzyme (Nakamura and Hirose, 2008 (PubMed 18287522)).(supplied by OMIM, Dec 2008)

GeneCards Summary for USP30 Gene: 
USP30 (ubiquitin specific peptidase 30) is a protein-coding gene. Diseases associated with USP30 include pancreatic cancer, and pancreatitis. GO annotations related to this gene include cysteine-type peptidase activity and ubiquitin thiolesterase activity.

UniProtKB/Swiss-Prot: UBP30_HUMAN, Q70CQ3
Function: May participate in the maintenance of mitochondrial morphology




(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_000012.11  NT_009775.17  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the USP30 gene promoter:
         Elk-1   SREBP-1c   ATF-2   SREBP-1b   c-Ets-1   PPAR-alpha   AREB6   SREBP-1a   Hlf   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUSP30 promoter sequence
   Search SABiosciences Chromatin IP Primers for USP30

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat USP30


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

Entrez Gene cytogenetic band: 12q24.11   Ensembl cytogenetic band:  12q24.11   HGNC cytogenetic band: 12q23.3

USP30 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
USP30 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P109460:  view genomic region     (about GC identifiers)

Start:
109,460,894 bp from pter      End:
109,525,831 bp from pter
Size:
64,938 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: UBP30_HUMAN, Q70CQ3 (See protein sequence)
Recommended Name: Ubiquitin carboxyl-terminal hydrolase 30  
Size: 517 amino acids; 58503 Da
Subcellular location: Mitochondrion outer membrane
Sequence caution: Sequence=AAH04868.1; Type=Erroneous initiation; Sequence=BAB55392.1; Type=Erroneous initiation;
Secondary accessions: Q8WTU7 Q96JX4 Q9BSS3

Explore the universe of human proteins at neXtProt for USP30: NX_Q70CQ3

Explore proteomics data for USP30 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q70CQ3

  • 4/8 DME Specific Peptides for USP30 (Q70CQ3) (see all 8)
     NLGNTCF  GLVNLGN  AVVVHHG  GNTCFMN 

    USP30 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    USP30 Protein Expression
    REFSEQ proteins: NP_116052.2  
    ENSEMBL proteins: 
     ENSP00000376535   ENSP00000257548   ENSP00000443678   ENSP00000473942   ENSP00000438829  
     ENSP00000440837   ENSP00000474166  

    Human Recombinant Protein Products for USP30: 
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for USP30
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for USP30
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    Novus Biologicals USP30 Proteins
    Novus Biologicals USP30 Lysate
    Sino Biological Recombinant Protein for USP30
    Sino Biological Cell Lysate for USP30 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for USP30 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005741mitochondrial outer membrane IEA--
    GO:0016021integral to membrane IEA--

    USP30 for ontologies           About GeneDecksing



    USP30 Antibody Products: 
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    Assay Products for USP30: 
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    Cloud-Clone Corp. ELISAs for USP30 
    Cloud-Clone Corp. CLIAs for USP30


    (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 Q70CQ3

    ProtoNet protein and cluster: Q70CQ3

    1 Blocks protein domain: IPB001394 Ubiquitin thiolesterase

    UniProtKB/Swiss-Prot: UBP30_HUMAN, Q70CQ3
    Similarity: Belongs to the peptidase C19 family


    USP30 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: UBP30_HUMAN, Q70CQ3
    Function: May participate in the maintenance of mitochondrial morphology
    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 Numbers (IUBMB): EC 3.1.2.152 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 IEA--
    GO:0008234cysteine-type peptidase activity IEA--
         
    USP30 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for USP30:
     Increased G1 DNA content  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for USP30 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for USP30

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for USP30 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for USP30 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat USP30
    8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate USP30 (see all 36):
    hsa-miR-4291 hsa-miR-596 hsa-miR-3655 hsa-miR-374a hsa-miR-488 hsa-miR-578 hsa-miR-3921 hsa-miR-374c
    SwitchGear 3'UTR luciferase reporter plasmidUSP30 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for USP30
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat USP30

    Gene Editing
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    OriGene ORF clones in mouse, rat for USP30
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    GenScript: all cDNA clones in your preferred vector: USP30 (NM_032663)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USP30
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                         Customized lentivirus expression plasmids for stable overexpression of USP30 

    Cell Line
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    Search LifeMap BioReagents cell lines for USP30
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP30


    (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

    SuperPaths for USP30 About                                                                                                See pathways by source

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

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for USP30
        Ubiquitin-Proteasome Dependent Proteolysis



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for USP30

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/8 Interacting proteins for USP30 (Q70CQ33 ENSP000002575484) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CLPBQ9H0783, ENSP000002940534I2D: score=2 STRING: ENSP00000294053
    SF3A1Q154593, ENSP000002157934I2D: score=2 STRING: ENSP00000215793
    SS18L1O751773, ENSP000003330124I2D: score=2 STRING: ENSP00000333012
    MPNDQ8N5943, ENSP000002629664I2D: score=1 STRING: ENSP00000262966
    QKIQ96PU83, ENSP000003549514I2D: score=2 STRING: ENSP00000354951
    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--

    USP30 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 USP30 (UBP30)

    1 HMDB Compound for USP30    About this table
    CompoundSynonyms CAS #PubMed Ids
    WaterDihydrogen oxide (see all 2)7732-18-5--

    Search CenterWatch for drugs/clinical trials and news about USP30 / UBP30

    (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 USP30 gene: 
    NM_032663.3  

    Unigene Cluster for USP30:

    Ubiquitin specific peptidase 30
    Hs.486434  [show with all ESTs]
    Unigene Representative Sequence: NM_032663
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392784 ENST00000257548(uc001tnu.4 uc010sxi.2) ENST00000536723
    ENST00000377883 ENST00000536393 ENST00000539121 ENST00000467307 ENST00000479219(uc001tnw.4)
    ENST00000491362 ENST00000470117
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat USP30
    8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate USP30 (see all 36):
    hsa-miR-4291 hsa-miR-596 hsa-miR-3655 hsa-miR-374a hsa-miR-488 hsa-miR-578 hsa-miR-3921 hsa-miR-374c
    SwitchGear 3'UTR luciferase reporter plasmidUSP30 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for USP30
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat USP30
    Clone
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    OriGene clones in human, mouse for USP30 (see all 11)
    OriGene ORF clones in mouse, rat for USP30
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: USP30 (NM_032663)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USP30
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat USP30
    Sirion Biotech Customized lentivirus for stable overexpression of USP30 
                         Customized lentivirus expression plasmids for stable overexpression of USP30 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for USP30
    OriGene qSTAR qPCR primer pairs in human, mouse for USP30
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat USP30
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat USP30
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat USP30

    Additional mRNA sequence: 

    AJ586136.1 AK027820.1 AK097830.1 AL834278.1 BC004868.2 BC022094.2 

    14 DOTS entries:

    DT.110754  DT.40109269  DT.308168  DT.121182416  DT.100770987  DT.100814139  DT.121182412  DT.121182413 
    DT.121193093  DT.427753  DT.92425081  DT.121193065  DT.449625  DT.91975023 

    24/86 AceView cDNA sequences (see all 86):

    BM672644 AA583470 AA856774 AA446585 AI146978 BM679502 N75906 CA446366 
    AW070912 BM727163 AL834278 AW118803 BF111051 CA488319 BU176869 CA423181 
    AJ586136 AI636361 BC022094 AW072628 AI636863 BI517446 AV646119 AW071856 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for USP30 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for USP30

    (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

    USP30 expression in normal human tissues (normalized intensities)      USP30 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGACCTTAAA
    USP30 Expression
    About this image


    USP30 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Testis Somatic Cells Primitive Gonad
             sperm   
     
     Brain (Nervous System)    fully expand to see all 2 entries
             medial temporal gyrus   
     
     Colon (Gastrointestinal Tract)
             colonic mucosa   
     
     Ovary (Reproductive System)
             oocyte   
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad

    See USP30 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for USP30

    SOURCE GeneReport for Unigene cluster: Hs.486434

    UniProtKB/Swiss-Prot: UBP30_HUMAN, Q70CQ3
    Tissue specificity: Expressed in skeletal muscle, pancreas, liver and kidney

        SABiosciences Custom PCR Arrays for USP30
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat USP30
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP30

    (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 eukaryotes.

    Orthologs for USP30 gene from 9/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Usp301 , 5 ubiquitin specific peptidase 301, 5 85.62(n)1
    89.75(a)1
      5 (55.96 cM)5
    1007561  NM_001033202.31  NP_001028374.11 
     1141003335 
    chicken
    (Gallus gallus)
    Aves USP301 ubiquitin specific peptidase 30 74.31(n)
    76.66(a)
      416896  XM_415187.3  XP_415187.3 
    lizard
    (Anolis carolinensis)
    Reptilia USP306
    Uncharacterized protein
    75(a)
    1 ↔ 1
    AAWZ02039048(2558-2761)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL872394.22   -- 73.46(n)    AL872394.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005372621 ubiquitin carboxyl-terminal hydrolase 30-like 62.36(n)
    63.79(a)
      100537262  XM_003201622.1  XP_003201670.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG30161 CG3016 49.92(n)
    41.29(a)
      31519  NM_132046.2  NP_572274.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y67D2.21 Protein Y67D2.2 41.9(n)
    32.71(a)
      175310  NM_065021.4  NP_497422.3 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UBP16
    Ubiquitin-specific protease that removes ubiquitin...
    14(a)
    1 ↔ 1
    IV(242552-244981)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons UBP271 ubiquitin carboxyl-terminal hydrolase 27 39.77(n)
    29.7(a)
      830092  NM_120097.2  NP_568058.1 


    ENSEMBL Gene Tree for USP30 (if available)
    TreeFam Gene Tree for USP30 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/684 SNPs in USP30 are shown (see all 684)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1496195351,2
    --109488502(+) AGAGGG/TACTTA 1 -- us2k10--------
    rs354094091,2
    C,F--109488525(+) AAAAAG/AATAAT 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1486459851,2
    --109488531(+) ATAATC/GGGCCG 1 -- us2k10--------
    rs591294661,2
    C,F--109488535(+) TGGGCC/TGGGCG 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1477816911,2
    C--109488574(+) TTTGGA/GAGCCC 1 -- us2k10--------
    rs1860432971,2
    --109488638(+) AACCCC/TGTCTC 1 -- us2k10--------
    rs1149556261,2
    C--109488743(+) AGAGGC/TGAGAT 1 -- us2k10--------
    rs1452706871,2
    --109488749(+) GAGATC/TGTGCC 1 -- us2k10--------
    rs1909049681,2
    --109488838(+) CACATA/GGAAAT 1 -- us2k10--------
    rs1476463891,2
    --109488847(+) ATGACA/GTATTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for USP30 (109460894 - 109525831 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for USP30:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2422361CNV Duplication17116639
    esv1340901CNV Insertion17803354
    nsv53822CNV Insertion16902084


    Human Gene Mutation Database (HGMD): USP30
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing USP30
    DNA2.0 Custom Variant and Variant Library Synthesis for USP30

    (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: 612492    OMIM disorders: --

    2 diseases for USP30:    About MalaCards
    pancreatic cancer    pancreatitis


    USP30 for disorders           About GeneDecksing


    Export disorders for USP30 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 USP30 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with USP30)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Regulation of Mitochondrial Morphology by USP30, a Deubiquitinating Enzyme Present in the Mitochondrial Outer Membrane. (PubMed id 18287522)1, 2, 9 Nakamura N. and Hirose S. (2008)
    2. 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. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases. (PubMed id 14715245)1, 2 Quesada V.... Lopez-Otin C. (2004)
    5. Human and mouse proteases: a comparative genomic approach. (PubMed id 12838346)1, 3 Puente X.S.... Lopez-Otin C. (2003)
    6. Activity-based chemical proteomics accelerates inhibi tor development for deubiquitylating enzymes. (PubMed id 22118674)1 Altun M....Kessler B.M. (2011)
    7. Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)
    8. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)
    9. 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. (2002)
    10. Molecular overlap of fly circadian rhythms and human pancreatic cancer. (PubMed id 16451817)9 Pogue-Geile K.L....Whitcomb D.C. (2006)

    (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: 84749 HGNC: 20065 AceView: USP30 Ensembl:ENSG00000135093 euGenes: HUgn84749
    ECgene: USP30 H-InvDB: USP30

    (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 USP30 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 USP30 gene:
    Search GeneIP for patents involving USP30

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



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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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