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    USP27X ubiquitin specific peptidase 27 X-linked [ Homo sapiens (human) ]

    Gene ID: 389856, updated on 10-Dec-2024

    Summary

    Official Symbol
    USP27Xprovided by HGNC
    Official Full Name
    ubiquitin specific peptidase 27 X-linkedprovided by HGNC
    Primary source
    HGNC:HGNC:13486
    See related
    Ensembl:ENSG00000273820 MIM:300975; AllianceGenome:HGNC:13486
    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
    USP27; MRX105; USP22L; XLID105
    Summary
    This gene encodes a member of the peptidase protein family. The encoded protein functions as a deubiquitinase that is involved in upregulation of the pro-apoptotic Bim protein. This protein may act as a tumor suppressor by increasing levels of Bim to counteract anti-apoptotic signals in cancer cells. Mutations in this gene have been associated with X-linked cognitive disability. [provided by RefSeq, Dec 2016]
    Orthologs
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    Genomic context

    See USP27X in Genome Data Viewer
    Location:
    Xp11.23
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (49879484..49882558)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (49195374..49198448)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (49644087..49647162)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:49593810-49594310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:49600770-49601270 Neighboring gene Sharpr-MPRA regulatory region 10598 Neighboring gene PAGE family member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:49639467-49639967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20846 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20847 Neighboring gene USP27X divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20848 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20849 Neighboring gene CPSF1 pseudogene 2 Neighboring gene chloride voltage-gated channel 5 Neighboring gene RNA, U6 small nuclear 421, pseudogene

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables K48-linked deubiquitinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables K63-linked deubiquitinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables cysteine-type deubiquitinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables cysteine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in defense response to virus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of type I interferon-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein K48-linked deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein K48-linked deubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein K63-linked deubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein deubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein stabilization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    ubiquitin carboxyl-terminal hydrolase 27
    Names
    X-linked ubiquitin carboxyl-terminal hydrolase 27
    deubiquitinating enzyme 27
    ubiquitin specific protease 27, X chromosome
    ubiquitin thioesterase 27
    ubiquitin-specific-processing protease 27
    NP_001138545.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_053124.1 RefSeqGene

      Range
      4618..7692
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145073.3NP_001138545.1  ubiquitin carboxyl-terminal hydrolase 27

      See identical proteins and their annotated locations for NP_001138545.1

      Status: REVIEWED

      Source sequence(s)
      AC236430
      Consensus CDS
      CCDS65260.1
      UniProtKB/Swiss-Prot
      A6NNY8
      Related
      ENSP00000483631.1, ENST00000621775.2
      Conserved Domains (1) summary
      cd02660
      Location:78419
      Peptidase_C19D; 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 ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      49879484..49882558
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      49195374..49198448
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)