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USP9X Gene

protein-coding   GIFtS: 63
GCID: GC0XP040944

Ubiquitin Specific Peptidase 9, X-Linked

(Previous names: ubiquitin specific protease 9, X chromosome (fat facets-like...)
  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)
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Aliases
Ubiquitin Specific Peptidase 9, X-Linked1 2     Ubiquitin Specific Peptidase 9, X-Linked (Fat Facets-Like, Drosophila)1
DFFRX2 3 5     Ubiquitin Specific Protease 9, X-Linked (Fat Facets-Like, Drosophila)1
Ubiquitin Specific Protease 9, X Chromosome (Fat Facets-Like Drosophila)1 2     FAF2
Deubiquitinating Enzyme FAF-X2 3     Drosophila Fat Facets Related, X-Linked2
Fat Facets In Mammals2 3     Fat Facets Protein Related, X-Linked2
Fat Facets Protein-Related, X-Linked2 3     Probable Ubiquitin Carboxyl-Terminal Hydrolase FAF-X2
Ubiquitin Thioesterase FAF-X2 3     Ubiquitin Thiolesterase FAF-X2
Ubiquitin-Specific Protease 9, X Chromosome2 3     Ubiquitin-Specific Processing Protease FAF-X2
Ubiquitin-Specific-Processing Protease FAF-X2 3     EC 3.4.19.123
FAM2 3     USP93
hFAM2 3     EC 3.1.2.158

External Ids:    HGNC: 126321   Entrez Gene: 82392   Ensembl: ENSG000001244867   OMIM: 3000725   UniProtKB: Q930083   

Export aliases for USP9X gene to outside databases

Previous GC identifers: GC0XP039009 GC0XP039231 GC0XP039827 GC0XP040013 GC0XP040739 GC0XP040829 GC0XP038676


(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 USP9X Gene:
This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific
proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene
have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different
isoforms, have been characterized. (provided by RefSeq, Jul 2008)

GeneCards Summary for USP9X Gene:
USP9X (ubiquitin specific peptidase 9, X-linked) is a protein-coding gene. Diseases associated with USP9X include dermatomycosis, and turner syndrome. GO annotations related to this gene include cysteine-type endopeptidase activity and ubiquitin thiolesterase activity. An important paralog of this gene is USP24.

UniProtKB/Swiss-Prot: USP9X_HUMAN, Q93008
Function: Deubiquitinase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins.
May therefore play an important role regulatory role at the level of protein turnover by preventing degradation
of proteins through the removal of conjugated ubiquitin. Essential component of TGF-beta/BMP signaling cascade.
Regulates chromosome alignment and segregation in mitosis by regulating the localization of BIRC5/survivin to
mitotic centromeres. Specifically hydrolyzes both 'Lys-29'- and 'Lys-33'-linked polyubiquitins chains.
Specifically deubiquitinates monoubiquitinated SMAD4, opposing the activity of E3 ubiquitin-protein ligase TRIM33

Gene Wiki entry for USP9X 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:
NC_000023.11  NT_079573.5  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the USP9X gene promoter:
         MEF-2   Egr-1   c-Ets-1   Meis-1b   Egr-4   RORalpha1   Ik-2   Meis-1a   aMEF-2   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for USP9X

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat USP9X


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

Entrez Gene cytogenetic band: Xp11.4   Ensembl cytogenetic band:  Xp11.4   HGNC cytogenetic band: Xp11.4

USP9X Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
USP9X gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP040944:  view genomic region     (about GC identifiers)

Start:
40,944,888 bp from pter      End:
41,095,832 bp from pter
Size:
150,945 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: USP9X_HUMAN, Q93008 (See protein sequence)
Recommended Name: Probable ubiquitin carboxyl-terminal hydrolase FAF-X  
Size: 2570 amino acids; 292280 Da
Subunit: Interacts with SMAD4, MARK4, NUAK1 and BIRC5/survivin
Miscellaneous: Escapes X-inactivation
Sequence caution: Sequence=CAD13527.2; Type=Erroneous gene model prediction; Sequence=CAD18900.2; Type=Erroneous
gene model prediction;
Secondary accessions: O75550 Q8WWT3 Q8WX12
Alternative splicing: 2 isoforms:  Q93008-3   Q93008-1   

Explore the universe of human proteins at neXtProt for USP9X: NX_Q93008

Explore proteomics data for USP9X at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys218, Lys315, Lys329, Lys424, Lys486, Lys571, Lys794, Lys1045, Lys1153, Lys1370,
                                 Lys1627, Lys1632, Lys1637, Lys1669, Lys1712, Lys1722, Lys1798, Lys1811, Lys1862, Lys2301 (see all 21)
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for USP9X (Q93008) (see all 16)
     INKDFFE  PFGQCYE  HYQKRAYQ  IQQLYMIP 


    See USP9X Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001034679.2  NP_001034680.2  

    ENSEMBL proteins: 
     ENSP00000367558   ENSP00000316357   ENSP00000420570  
    Reactome Protein details: Q93008

    USP9X Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for USP9X
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for USP9X
    GenScript Custom Purified and Recombinant Proteins Services for USP9X
    Novus Biologicals USP9X Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for USP9X

    USP9X Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of USP9X
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for USP9X 
    OriGene Antibodies for USP9X
    OriGene Custom Antibody Services for USP9X
    Novus Biologicals USP9X Antibodies
    Search for Antibodies for USP9X at Abcam
    Cloud-Clone Corp. Antibodies for USP9X
    ThermoFisher Antibody for USP9X
    LSBio Antibodies in human, mouse, rat for USP9X

    USP9X 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 USP9X
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for USP9X
    Cloud-Clone Corp. CLIAs for USP9X


    (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

    4 InterPro protein domains:
     IPR001394 Peptidase_C19_UCH
     IPR018200 Pept_C19ubi-hydrolase_C_CS
     IPR028889 UCH/PAN2
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q93008

    ProtoNet protein and cluster: Q93008

    1 Blocks protein domain: IPB001394 Ubiquitin thiolesterase

    UniProtKB/Swiss-Prot: USP9X_HUMAN, Q93008
    Similarity: Belongs to the peptidase C19 family
    Similarity: Contains 1 USP domain


    USP9X 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: USP9X_HUMAN, Q93008
    Function: Deubiquitinase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins.
    May therefore play an important role regulatory role at the level of protein turnover by preventing degradation
    of proteins through the removal of conjugated ubiquitin. Essential component of TGF-beta/BMP signaling cascade.
    Regulates chromosome alignment and segregation in mitosis by regulating the localization of BIRC5/survivin to
    mitotic centromeres. Specifically hydrolyzes both 'Lys-29'- and 'Lys-33'-linked polyubiquitins chains.
    Specifically deubiquitinates monoubiquitinated SMAD4, opposing the activity of E3 ubiquitin-protein ligase TRIM33
    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)

         Genatlas biochemistry entry for USP9X:
    ubiquitin specific protease 9,X chromosome,Drosophila developmental gene fat facets related on the X,Dres14 mouse
    homolog,ubiquitously expressed at low levels in embryo,escaping inactivation,widely expressed,deubiquitin enzyme
    family

         Enzyme Numbers (IUBMB): EC 3.1.2.152 EC 3.4.19.121

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004197cysteine-type endopeptidase activity TAS9827704
    GO:0004221ubiquitin thiolesterase activity TAS--
    GO:0005488binding ----
    GO:0005515protein binding IPI16322459
    GO:0008234cysteine-type peptidase activity TAS8922996
         
    USP9X for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for USP9X:
     Decreased Wnt reporter activit  Increased Salmonella enterica   Increased Salmonella enterica   Increased cell death in HCT116 
     Synthetic lethal with Ras 

         9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Usp9x):
     cardiovascular system  embryogenesis  growth/size/body  integument  mortality/aging 
     nervous system  no phenotypic analysis  normal  tumorigenesis 

    USP9X for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for USP9X
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for USP9X

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for USP9X
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for USP9X

    miRNA
    Products:
        
    miRTarBase miRNAs that target USP9X:
    hsa-mir-186-5p (MIRT045086), hsa-mir-222-3p (MIRT046739), hsa-mir-1180-3p (MIRT035926), hsa-mir-330-3p (MIRT043839), hsa-mir-92a-3p (MIRT048997), hsa-mir-16-5p (MIRT031499)

    Block miRNA regulation of human, mouse, rat USP9X using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate USP9X (see all 87):
    hsa-miR-100* hsa-miR-640 hsa-miR-15a hsa-miR-199a-3p hsa-miR-134 hsa-miR-200a hsa-miR-138-2* hsa-miR-1244
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for USP9X
    Predesigned siRNA for gene silencing in human, mouse, rat USP9X

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for USP9X

    Clone
    Products:
         
    OriGene clones in human, mouse for USP9X (see all 9)
    OriGene ORF clones in mouse, rat for USP9X
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): USP9X (NM_001039590)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USP9X
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat USP9X

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for USP9X
    Browse ESI BIO Cell Lines and PureStem Progenitors for USP9X 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP9X


    (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
    USP9X_HUMAN, Q93008: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    plasma membrane3
    chloroplast1
    nucleus1
    vacuole1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA19135894
    GO:0005829cytosol TAS--
    GO:0045177apical part of cell IEA--

    USP9X for ontologies           About GeneDecksing


    (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 USP9X About   (see all 7)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Loss of Function of SMAD2/3 in Cancer
    Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer0.72
    TGFBR1 KD Mutants in Cancer0.60
    Loss of Function of SMAD2/3 in Cancer0.60
    SMAD2/3 MH2 Domain Mutants in Cancer0.60
    Loss of Function of SMAD4 in Cancer0.60
    SMAD2/3 Phosphorylation Motif Mutants in Cancer0.60
    TGFBR2 MSI Frameshift Mutants in Cancer0.60
    SMAD4 MH2 Domain Mutants in Cancer0.60
    2Gene Expression
    Generic Transcription Pathway0.40
    Gene Expression0.40
    3Signaling by GPCR
    Signal Transduction0.58
    4Ubiquitin-Proteasome Dependent Proteolysis
    Ubiquitin-Proteasome Dependent Proteolysis
    5Protein Stability
    Protein Stability

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for USP9X
        Ubiquitin-Proteasome Dependent Proteolysis

    2 Cell Signaling Technology (CST) Pathways for USP9X
        Cytoskeletal Signaling
    Protein Stability

    1 Reactome Pathway for USP9X
        Downregulation of SMAD2/3:SMAD4 transcriptional activity



    USP9X for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for USP9X
    Interactions:

        GeneGlobe Interaction Network for USP9X

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

    Selected Interacting proteins for USP9X (Q930081, 2, 3 ENSP000003163574) via UniProtKB, MINT, STRING, and/or I2D (see all 194)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NFKB2Q006532, 3MINT-47897 MINT-48775 MINT-48630 I2D: score=2 
    RELBQ012012, 3, ENSP000002214524MINT-49035 I2D: score=2 STRING: ENSP00000221452
    SMAD4Q134851, 3, ENSP000003415514EBI-302524,EBI-347263 I2D: score=2 STRING: ENSP00000341551
    MYCBP2O755922, 3, ENSP000003498924MINT-8395092 I2D: score=1 STRING: ENSP00000349892
    MAP3K1Q132332, 3MINT-48359 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter TAS--
    GO:0006351transcription, DNA-templated TAS--
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0006511ubiquitin-dependent protein catabolic process IEA--
    GO:0007059chromosome segregation IEA--

    USP9X for ontologies           About GeneDecksing



    (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 USP9X

    1 HMDB Compound for USP9X    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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for USP9X gene (4 alternative transcripts): 
    NM_001039590.2  NM_001039591.2  NM_004652.3  NM_021906.2  

    Unigene Cluster for USP9X:

    Ubiquitin specific peptidase 9, X-linked
    Hs.77578  [show with all ESTs]
    Unigene Representative Sequence: NM_001039590
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378308 ENST00000324545(uc004dfb.3 uc004dfc.3) ENST00000467173
    ENST00000465386 ENST00000463829 ENST00000462850 ENST00000487625 ENST00000485180

    miRNA
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    Block miRNA regulation of human, mouse, rat USP9X using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate USP9X (see all 87):
    hsa-miR-100* hsa-miR-640 hsa-miR-15a hsa-miR-199a-3p hsa-miR-134 hsa-miR-200a hsa-miR-138-2* hsa-miR-1244
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat USP9X
    Clone
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    OriGene ORF clones in mouse, rat for USP9X
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): USP9X (NM_001039590)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USP9X
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat USP9X
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for USP9X
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat USP9X
      QuantiTect SYBR Green Assays in human, mouse, rat USP9X
      QuantiFast Probe-based Assays in human, mouse, rat USP9X

    Additional mRNA sequence: 

    AB209666.1 AF070645.1 AJ012078.1 AK294828.1 BC014792.1 BC046205.1 BC054861.1 BC063645.1 
    X98296.1 

    20 DOTS entries:

    DT.100735421  DT.100642917  DT.95123335  DT.318983  DT.97768434  DT.99931034  DT.102834490  DT.95205087 
    DT.95123237  DT.97776989  DT.121297833  DT.92435812  DT.100742016  DT.102834493  DT.91891417  DT.95123283 
    DT.95123307  DT.100809631  DT.101963536  DT.437898 

    Selected AceView cDNA sequences (see all 454):

    BM979281 CN479077 AI351158 AA824386 AF070645 BU632436 BM854771 CA395345 
    N39856 BQ021785 AI022439 BU739430 BM967196 BG290398 CA446388 BQ018798 
    BQ005130 BX956755 AI538234 BI011713 BE646023 BI011718 AA977032 BE870965 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for USP9X (see all 13)    About this scheme

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

    ExUns: 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26a · 26b · 26c ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b ^ 34 ^ 35 ^ 36 ^ 37a · 37b ^ 38 ^
    SP1:                                                  -                                                                                               -         
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 39a · 39b
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for USP9X

    (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)
    About This Section

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    USP9X expression in normal human tissues (normalized intensities)      USP9X embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    USP9X Expression
    About this image


    USP9X 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
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Intermediate Mesoderm (Gastrulation Derivatives)
             Mesonephros
     
     Ovary (Reproductive System)
     
     Testis (Reproductive System)
     
     Placenta (Extraembryonic Tissues)
    USP9X Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    USP9X Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.77578

    UniProtKB/Swiss-Prot: USP9X_HUMAN, Q93008
    Tissue specificity: Widely expressed in embryonic and adult tissues

        Custom PCR Arrays for USP9X
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    (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 USP9X gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Usp9x1 , 5 ubiquitin specific peptidase 9, X chromosome1, 5 92.85(n)1
    98.47(a)1
      X (7.95 cM)5
    222841  NM_009481.21  NP_033507.21 
     130714985 
    chicken
    (Gallus gallus)
    Aves USP9X1 ubiquitin specific peptidase 9, X-linked 85.94(n)
    95.45(a)
      418569  XM_004934612.1  XP_004934669.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Ubiquitin carboxyl-terminal hydrolase
    95(a)
    1 → many
    3(133958557-134041276)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.44902 Xenopus laevis transcribed sequence with moderate similarity more 87.46(n)    BJ085423.1 
    zebrafish
    (Danio rerio)
    Actinopterygii usp91 ubiquitin specific peptidase 9 76.27(n)
    90.27(a)
      568683  NM_001077449.1  NP_001070917.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta faf1 , 3 protein deubiquitination
    ubiquitin-specific protease3
    fat facets1
    47(a)3
    53.8(n)1
    51.01(a)1
      100D23
    437491  NM_170576.21  NP_733455.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F37B12.43 ubiquitin carboxyl-terminal hydrolase 30(a)   II(9042685-9047401)   --


    ENSEMBL Gene Tree for USP9X (if available)
    TreeFam Gene Tree for USP9X (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for USP9X gene
    USP242  USP182  USP482  USP412  USP402  USP72  USP472  USP342  
    USP9Y2  
    2 SIMAP similar genes for USP9X using alignment to 5 protein entries:     USP9X_HUMAN (see all proteins):
    USP9Y    USP24

    USP9X for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for USP9X (see all 8)
    PGOHUM00000233766 PGOHUM00000233767 PGOHUM00000233838 PGOHUM00000233872 PGOHUM00000233975


    (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 USP9X (see all 2088)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1893797991,2
    --40943156(+) CATTAG/TTTTGG 2 -- us2k10--------
    rs1812622211,2
    --40943164(+) TGGTTC/GCATTT 2 -- us2k10--------
    rs1420661731,2
    --40943397(+) CCCATG/TAATTT 2 -- us2k10--------
    rs1846841641,2
    C--40943501(+) CCGGGG/TCCTAA 2 -- us2k10--------
    rs1890013031,2
    --40943502(+) CGGGTC/TCTAAC 2 -- us2k10--------
    rs1819971021,2
    --40943692(+) TGAGGA/TCGCCT 2 -- us2k10--------
    rs1870891101,2
    --40943729(+) TGATCA/GTGTGA 2 -- us2k10--------
    rs1911013101,2
    --40943762(+) CTCGCC/GGGGTG 2 -- us2k10--------
    rs1807242261,2
    C--40943791(+) CCCACA/GCCCCC 2 -- us2k10--------
    rs1865737781,2
    --40944267(+) CCGCTC/TCTGAG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for USP9X (40944888 - 41095832 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for USP9X:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2675527CNV Deletion23128226
    esv2740111CNV Deletion23290073
    esv2740112CNV Deletion23290073
    esv2740110CNV Deletion23290073
    nsv6874CNV Insertion18451855
    esv33720CNV Loss17666407
    dgv512n21CNV Gain19592680

    Human Gene Mutation Database (HGMD): USP9X
    Locus Specific Mutation Databases (LSDB): USP9X

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing USP9X
    DNA2.0 Custom Variant and Variant Library Synthesis for USP9X

    (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.)
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    OMIM gene information: 300072    OMIM disorders: --

    13 diseases for USP9X:    About MalaCards
    dermatomycosis    turner syndrome    premature ovarian failure    pancreatic ductal adenocarcinoma
    spinal muscular atrophy    brain cancer    muscular atrophy    cystic fibrosis
    adenocarcinoma    pancreatitis    colorectal cancer    malaria
    neuronitis


    USP9X for disorders           About GeneDecksing

    Genetic Association Database (GAD): USP9X
    Human Genome Epidemiology (HuGE) Navigator: USP9X (4 documents)

    Export disorders for USP9X 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 USP9X gene, integrated from 10 sources (see all 89):
    (articles sorted by number of sources associating them with USP9X)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2. (PubMed id 8922996)1, 2, 3 Jones M.H.... Affara N.A. (Hum. Mol. Genet. 1996)
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    3. FAM/USP9x, a deubiquitinating enzyme essential for TGFbeta signaling, controls Smad4 monoubiquitination. (PubMed id 19135894)1, 2 Dupont S.... Piccolo S. (Cell 2009)
    4. Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene. (PubMed id 19508998)1, 4 Knauff E.A....Fauser B.C. (Hum. Reprod. 2009)
    5. Control of AMPK-related kinases by USP9X and atypical Lys(29)/Lys(33)-linked polyubiquitin chains. (PubMed id 18254724)1, 2 Al-Hakim A.K....Alessi D.R. (Biochem. J. 2008)
    6. 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)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    8. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    9. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (Nat. Biotechnol. 2005)
    10. Chromosome alignment and segregation regulated by ubiquitination of survivin. (PubMed id 16322459)1, 2 Vong Q.P.... Zheng Y. (Science 2005)

    (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: 8239 HGNC: 12632 AceView: USP9X Ensembl:ENSG00000124486 euGenes: HUgn8239
    ECgene: USP9X H-InvDB: USP9X

    (According to HUGE)
    About This Section

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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)
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    NameDescription
    PharmGKB entry for USP9X 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 USP9X gene:
    Search GeneIP for patents involving USP9X

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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