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

    Gene ID: 8239, updated on 26-Nov-2016
    Official Symbol
    USP9Xprovided by HGNC
    Official Full Name
    ubiquitin specific peptidase 9, X-linkedprovided by HGNC
    Primary source
    HGNC: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; MRX99; MRXS99F
    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]
    Orthologs
    Location:
    Xp11.4
    Exon count:
    45
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (41085420..41236579)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (40944727..41095832)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S2 pseudogene 55 Neighboring gene chloride intracellular channel 4 pseudogene 3 Neighboring gene uncharacterized LOC105373185 Neighboring gene uncharacterized LOC105373184 Neighboring gene RNA, 5S ribosomal pseudogene 502

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Amyloid fiber formation, organism-specific biosystem (from REACTOME)
      Amyloid fiber formation, organism-specific biosystemAmyloid is a term used to describe deposits of fibrillar proteins, typically extracellular. The abnormal accumulation of amyloid, amyloidosis, is a term associated with tissue damage caused by amyloi...
    • Deubiquitination, organism-specific biosystem (from REACTOME)
      Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
    • Downregulation of SMAD2/3:SMAD4 transcriptional activity, organism-specific biosystem (from REACTOME)
      Downregulation of SMAD2/3:SMAD4 transcriptional activity, organism-specific biosystemTranscriptional activity of SMAD2/3:SMAD4 heterotrimer can be inhibited by formation of a complex with SKI or SKIL (SNO), where SKI or SKIL recruit NCOR and possibly other transcriptional repressors ...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Protein ubiquitination, organism-specific biosystem (from REACTOME)
      Protein ubiquitination, organism-specific biosystemUbiquitin is a small, 76 amino acid residue protein that is conjugated by E3 ubiquitin ligases to other proteins in order to regulate their function or degradation (enzymatic cascade reviewed in Neut...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by TGF-beta Receptor Complex, organism-specific biosystem (from REACTOME)
      Signaling by TGF-beta Receptor Complex, organism-specific biosystemThe TGF-beta/BMP pathway incorporates several signaling pathways that share most, but not all, components of a central signal transduction engine. The general signaling scheme is rather simple: upon ...
    • Synthesis of active ubiquitin: roles of E1 and E2 enzymes, organism-specific biosystem (from REACTOME)
      Synthesis of active ubiquitin: roles of E1 and E2 enzymes, organism-specific biosystemUbiquitin monomers are processed from larger precursors and then activated by formation of a thiol ester bond between ubiquitin and a cysteine residue of an E1 activating enzyme (UBA1 or UBA6, Jin et...
    • Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer, organism-specific biosystem (from REACTOME)
      Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer, organism-specific biosystemIn the nucleus, SMAD2/3:SMAD4 heterotrimer complex acts as a transcriptional regulator. The activity of SMAD2/3 complex is regulated both positively and negatively by association with other transcrip...
    • Ub-specific processing proteases, organism-specific biosystem (from REACTOME)
      Ub-specific processing proteases, organism-specific biosystemUb-specific processing proteases (USPs) are the largest of the DUB families with more than 50 members in humans. The USP catalytic domain varies considerably in size and consists of six conserved mo...
    Products Interactant Other Gene Complex Source Pubs Description

    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
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    thiol-dependent ubiquitin-specific protease activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axon extension IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell division IEA
    Inferred from Electronic Annotation
    more info
     
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    chromosome segregation IEA
    Inferred from Electronic Annotation
    more info
     
    female gamete generation TAS
    Traceable Author Statement
    more info
    PubMed 
    mitotic nuclear division IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
     
    neuron migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 
    cytosol TAS
    Traceable Author Statement
    more info
     
    growth cone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    probable ubiquitin carboxyl-terminal hydrolase FAF-X
    Names
    Drosophila fat facets related, X-linked
    deubiquitinating enzyme FAF-X
    fat facets in mammals
    fat facets protein related, X-linked
    hFAM
    ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)
    ubiquitin thioesterase FAF-X
    ubiquitin thiolesterase FAF-X
    ubiquitin-specific processing protease FAF-X
    ubiquitin-specific protease 9, X chromosome
    NP_001034679.2
    NP_001034680.2

    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

      See identical proteins and their annotated locations for NP_001034679.2

      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/Swiss-Prot
      Q93008
      UniProtKB/TrEMBL
      Q6P468
      Related
      ENSP00000316357, OTTHUMP00000216101, ENST00000324545, OTTHUMT00000056250
      Conserved Domains (2) summary
      cd02659
      Location:15551958
      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:15571953
      UCH; Ubiquitin carboxyl-terminal hydrolase
    2. NM_001039591.2NP_001034680.2  probable ubiquitin carboxyl-terminal hydrolase FAF-X isoform 4

      See identical proteins and their annotated locations for NP_001034680.2

      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/Swiss-Prot
      Q93008
      UniProtKB/TrEMBL
      Q6P468, Q86X58
      Related
      ENSP00000367558, OTTHUMP00000023142, ENST00000378308, OTTHUMT00000056248
      Conserved Domains (2) summary
      cd02659
      Location:15551958
      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:15571953
      UCH; Ubiquitin carboxyl-terminal hydrolase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      41085420..41236579
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005272675.4XP_005272732.1  

      See identical proteins and their annotated locations for XP_005272732.1

      Conserved Domains (2) summary
      cd02659
      Location:15601963
      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:15621958
      UCH; Ubiquitin carboxyl-terminal hydrolase
    2. XM_005272676.4XP_005272733.1  

      See identical proteins and their annotated locations for XP_005272733.1

      Conserved Domains (2) summary
      cd02659
      Location:15601963
      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:15621958
      UCH; Ubiquitin carboxyl-terminal hydrolase

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      40977600..41128503
      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.
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