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    USP9X ubiquitin specific peptidase 9, X-linked [ Homo sapiens ]

    Gene ID: 8239, updated on 11-May-2012

    Summary

    Official Symbol
    USP9Xprovided by HGNC
    Official Full Name
    ubiquitin specific peptidase 9, X-linkedprovided by HGNC
    Primary source
    HGNC:12632
    See related
    Ensembl:ENSG00000124486; HPRD:02091; MIM:300072; Vega:OTTHUMG00000021367
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FAF; FAM; DFFRX
    Summary
    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]

    Genomic context

    Location :
    Xp11.4
    Sequence :
    Chromosome: X; NC_000023.10 (40944888..41095832)
    See USP9X in Epigenomics, MapViewer

    Chromosome X - NC_000023.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein S2 pseudogene 55 Neighboring gene chloride intracellular channel 4 pseudogene Neighboring gene protein shisa-5-like Neighboring gene DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q93008 P35222 CTNNB1    HPRD  PubMed  
    Q93008 O43602 DCX    HPRD  PubMed  
    Q93008 P55196 MLLT4    HPRD  PubMed  
    BioGRID:113867 BioGRID:106829 BIRC5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:113867 BioGRID:107287 CASP4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113867 BioGRID:107434 CDH1    BioGRID  PubMed Co-fractionation 
    BioGRID:113867 BioGRID:107880 CTNNB1    BioGRID  PubMed Affinity Capture-Western; Co-fractionation; Reconstituted Complex 
    BioGRID:113867 BioGRID:108008 DCX    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:113867 BioGRID:117539 GPSM1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:113867 BioGRID:115331 HDAC5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113867 BioGRID:115385 HUWE1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:113867 BioGRID:123747 ITCH    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:113867 BioGRID:110381 MAP3K5    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Biochemical Activity; Co-fractionation 
    BioGRID:113867 BioGRID:121760 MARK4    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:113867 BioGRID:110338 MCL1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:113867 BioGRID:110447 MLLT4    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:113867 BioGRID:116000 NEK6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113867 BioGRID:115221 NUAK1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:113867 BioGRID:117094 PSD4    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:113867 BioGRID:110261 SMAD1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:113867 BioGRID:110262 SMAD2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:113867 BioGRID:110263 SMAD3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:113867 BioGRID:110264 SMAD4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:113867 BioGRID:112506 SNCA    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:113867 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113867 BioGRID:112872 TERF1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113867 BioGRID:112873 TERF2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113867 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    co-SMAD binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    cysteine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    cysteine-type peptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin thiolesterase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    cell division IEA
    Inferred from Electronic Annotation
    more info
     
    chromosome segregation IEA
    Inferred from Electronic Annotation
    more info
     
    female gamete generation TAS
    Traceable Author Statement
    more info
    PubMed 
    mitosis IEA
    Inferred from Electronic Annotation
    more info
     
    protein deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    probable ubiquitin carboxyl-terminal hydrolase FAF-X
    Names
    probable ubiquitin carboxyl-terminal hydrolase FAF-X
    hFAM
    fat facets in mammals
    ubiquitin thioesterase FAF-X
    deubiquitinating enzyme FAF-X
    ubiquitin thiolesterase FAF-X
    fat facets protein related, X-linked
    fat facets protein-related, X-linked
    Drosophila fat facets related, X-linked
    ubiquitin-specific protease 9, X chromosome
    ubiquitin-specific processing protease FAF-X
    ubiquitin-specific-processing protease FAF-X
    ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)
    NP_001034679.2
    NP_001034680.2

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012547.1 RefSeqGene

      Range
      5001..155945
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001039590.2NP_001034679.2  probable ubiquitin carboxyl-terminal hydrolase FAF-X isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longer transcript and encodes the longer isoform (3).
      Source sequence(s)
      AA261797, AF070645, AL109797, AW183065, BC063645, BE925861, BX956755, CD619095, DA854185, X98296
      Consensus CDS
      CCDS43930.1
      UniProtKB/TrEMBL
      Q6P468
      UniProtKB/Swiss-Prot
      Q93008
      Related
      ENSP00000316357, OTTHUMP00000216101, ENST00000324545, OTTHUMT00000056250
      Conserved Domains (3) summary
      cd02659
      Location:15551958
      Blast Score: 1099
      peptidase_C19C; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
      pfam09606
      Location:24862564
      Blast Score: 95
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      pfam00443
      Location:15551953
      Blast Score: 655
      UCH; Ubiquitin carboxyl-terminal hydrolase
    2. NM_001039591.2NP_001034680.2  probable ubiquitin carboxyl-terminal hydrolase FAF-X isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site at the 3' end of an exon compared to variant 3. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 3.
      Source sequence(s)
      AA261797, AL109797, AW183065, BC046205, BC063645, BE925861, BX956755, CD619095, DA854185, X98296
      Consensus CDS
      CCDS55403.1
      UniProtKB/TrEMBL
      Q6P468
      UniProtKB/TrEMBL
      Q86X58
      UniProtKB/Swiss-Prot
      Q93008
      Related
      ENSP00000367558, OTTHUMP00000023142, ENST00000378308, OTTHUMT00000056248
      Conserved Domains (2) summary
      cd02659
      Location:15551958
      Blast Score: 1100
      peptidase_C19C; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
      pfam00443
      Location:15551953
      Blast Score: 655
      UCH; Ubiquitin carboxyl-terminal hydrolase

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000023.10 Reference GRCh37.p5 Primary Assembly

      Range
      40944888..41095832
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000155.1 Alternate HuRef

      Range
      38676295..38826441
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_004652.3: Suppressed sequence

      Description
      NM_004652.3: This RefSeq was temporarily suppressed because currently there is insufficient data to support this transcript.
    2. NM_021906.2: Suppressed sequence

      Description
      NM_021906.2: This RefSeq was temporarily suppressed because currently there is insufficient data to support this transcript.

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC006121.1 None
    genomic AL109797.18 CAD18900.2
    genomic AL391259.15 CAD13527.2
    genomic CH471141.2 EAW59406.1
      EAW59407.1
      EAW59408.1
      EAW59409.1
      EAW59410.1
      EAW59411.1
      EAW59412.1
    mRNA AA261797.1 None
    mRNA AB209666.1 BAD92903.1
    mRNA AF070645.1 AAC25395.1
    mRNA AJ012078.1 None
    mRNA AK294828.1 BAG57940.1
    mRNA AW183065.1 None
    mRNA BC014792.1 None
    mRNA BC046205.1 AAH46205.1
    mRNA BC054861.1 None
    mRNA BC063645.1 AAH63645.1
    mRNA BE925861.1 None
    mRNA BX956755.1 None
    mRNA CD619095.1 None
    mRNA DA854185.1 None
    mRNA X98296.1 CAA66942.1
    other-genetic BC172429.1 AAI72429.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q59EZ5 GenPept UniProtKB/TrEMBL:Q59EZ5
    Q6P468 GenPept UniProtKB/TrEMBL:Q6P468
    Q86X58 GenPept UniProtKB/TrEMBL:Q86X58
    Q93008.3 GenPept UniProtKB/Swiss-Prot:Q93008

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