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USP30 Gene

protein-coding   GIFtS: 55
GCID: GC12P109460

Ubiquitin Specific Peptidase 30

(Previous name: ubiquitin specific protease 30)
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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 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   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 Chromatin IP Primers for USP30

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: UBP30_HUMAN, Q70CQ3 (See protein sequence)
Recommended Name: Ubiquitin carboxyl-terminal hydrolase 30  
Size: 517 amino acids; 58503 Da
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for USP30 (Q70CQ3) (see all 8)
     NLGNTCF  GLVNLGN  AVVVHHG  GNTCFMN 


    See USP30 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    USP30 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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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
    GenScript Custom Purified and Recombinant Proteins Services for USP30
    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

     
    Search eBioscience for Proteins for USP30 

     
    antibodies-online proteins for USP30 (6 products) 

     
    antibodies-online peptides for USP30

    USP30 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for USP30
    OriGene Custom Antibody Services for USP30
    Novus Biologicals USP30 Antibodies
    Search for Antibodies for USP30 at Abcam
    Cloud-Clone Corp. Antibodies for USP30
    Search ThermoFisher Antibodies for USP30
    LSBio Antibodies in human, mouse, rat for USP30
    antibodies-online antibodies for USP30 (22 products) 

    USP30 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for USP30
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for USP30
    Cloud-Clone Corp. CLIAs for USP30
    Search eBioscience for ELISAs for USP30 
    antibodies-online kits for USP30 (4 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 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
    Similarity: Contains 1 USP domain


    Find genes that share domains with USP30           About GenesLikeMe


    (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,
    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: 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): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004221ubiquitin thiolesterase activity ----
    GO:0004843ubiquitin-specific protease activity IDA14715245
    GO:0008234cysteine-type peptidase activity ----
         
    Find genes that share ontologies with USP30           About GenesLikeMe


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

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for USP30
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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:
        
    miRTarBase miRNAs that target USP30:
    hsa-mir-484 (MIRT042215), hsa-mir-877-5p (MIRT037261)

    Block miRNA regulation of human, mouse, rat USP30 using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for USP30
    Predesigned siRNA for gene silencing in human, mouse, rat USP30

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for USP30

    Clone
    Products:
         
    OriGene clones in human, mouse for USP30 (see all 10)
    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)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USP30
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat USP30
    Addgene plasmids for USP30 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for USP30
    Browse ESI BIO Cell Lines and PureStem Progenitors for USP30 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP30


    (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
    UBP30_HUMAN, Q70CQ3: Mitochondrion outer membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    plasma membrane2
    cytosol1
    endoplasmic reticulum1
    nucleus1
    peroxisome1

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

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

    Find genes that share ontologies with USP30           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 USP30 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 USP30
        Ubiquitin-Proteasome Dependent Proteolysis



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for USP30
    Interactions:

        Search GeneGlobe Interaction Network for USP30

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

    Selected Interacting proteins for USP30 (Q70CQ33 ENSP000002575484) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    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): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006511ubiquitin-dependent protein catabolic process IEA--
    GO:0016579protein deubiquitination IDA14715245

    Find genes that share ontologies with USP30           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 USP30 (UBP30)

    1 HMDB Compound for USP30    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 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:
         
    Block miRNA regulation of human, mouse, rat USP30 using miScript Target Protectors
    Selected qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for USP30
    Predesigned siRNA for gene silencing in human, mouse, rat USP30
    Clone
    Products:
         
    OriGene clones in human, mouse for USP30 (see all 10)
    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
    Addgene plasmids for USP30 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for USP30
    OriGene qSTAR qPCR primer pairs in human, mouse for USP30
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat USP30
      QuantiTect SYBR Green Assays in human, mouse, rat USP30
      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 

    Selected AceView cDNA sequences (see all 86):

    AW118803 AW072628 AI146978 AA446585 CA488319 BM672644 AA583470 BU176869 
    CA446366 BM679502 AJ586136 AA856774 CA423181 BC022094 AL834278 AI636361 
    BM727163 BF111051 AW070912 AI636863 N75906 BI517446 BG678894 AA872309 

    GeneLoc Exon Structure

    Selected 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™, 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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    USP30 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 2) fully expand
     
     Testis (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad
    USP30 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    USP30 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.486434

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

        Custom PCR Arrays for USP30
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for USP30
    OriGene qSTAR qPCR primer pairs in human, mouse for USP30
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat USP30
    QuantiTect SYBR Green Assays in human, mouse, rat USP30
    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for USP30 gene from Selected species (see all 14)    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 74.38(n)
    76.66(a)
      416896  XM_415187.4  XP_415187.3 
    lizard
    (Anolis carolinensis)
    Reptilia USP306
    ubiquitin specific peptidase 30
    78(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 62.85(n)
    64.8(a)
      100537262  XM_003201622.2  XP_003201670.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG30161 CG3016 48.95(n)
    41.01(a)
      31519  NM_132046.2  NP_572274.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y67D2.21 Y67D2.2 41.4(n)
    31.92(a)
      175310  NM_065021.5  NP_497422.3 


    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)
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    Paralogs for USP30 gene
    7 SIMAP similar genes for USP30 using alignment to 7 protein entries:     UBP30_HUMAN (see all proteins):
    USP15    USP36    USP19    USP16    USP2    USP45
    USP33

    Find genes that share paralogs with USP30           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 USP30 (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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612492    OMIM disorders: --


    Find genes that share disorders with USP30           About GenesLikeMe


    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)
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    PubMed articles for USP30 gene integrated from 10 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. (Mol. Biol. Cell 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. (Genome Res. 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. 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)
    5. Human and mouse proteases: a comparative genomic approach. (PubMed id 12838346)1, 3 Puente X.S.... Lopez-Otin C. (Nat. Rev. Genet. 2003)
    6. Activity-based chemical proteomics accelerates inhibitor development for deubiquitylating enzymes. (PubMed id 22118674)1 Altun M....Kessler B.M. (amp 2011)
    7. Defining the human deubiquitinating enzyme interaction landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (Cell 2009)
    8. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (Nat. Biotechnol. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. Molecular overlap of fly circadian rhythms and human pancreatic cancer. (PubMed id 16451817)9 Pogue-Geile K.L....Whitcomb D.C. (Cancer Lett. 2006)

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

    (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 USP30 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    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



    (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, LSBio, 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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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