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    USP51 ubiquitin specific peptidase 51 [ Homo sapiens (human) ]

    Gene ID: 158880, updated on 3-Nov-2024

    Summary

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    Official Symbol
    USP51provided by HGNC
    Official Full Name
    ubiquitin specific peptidase 51provided by HGNC
    Primary source
    HGNC:HGNC:23086
    See related
    Ensembl:ENSG00000247746 AllianceGenome:HGNC:23086
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Enables chromatin binding activity; deubiquitinase activity; and histone binding activity. Involved in DNA repair-dependent chromatin remodeling; regulation of cell cycle process; and regulation of double-strand break repair. Predicted to be located in chromosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in thyroid (RPKM 4.9), ovary (RPKM 3.8) and 23 other tissues See more
    Orthologs
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    Genomic context

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    See USP51 in Genome Data Viewer
    Location:
    Xp11.21
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (55484616..55489848, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (54776519..54781751)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (55511049..55516281, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29677 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29678 Neighboring gene microRNA 4536-1 Neighboring gene microRNA 4536-2 Neighboring gene MAGE family member H1 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:55514837-55515696 Neighboring gene uncharacterized LOC101928692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29680 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20867 Neighboring gene MAGE family member E1 pseudogene Neighboring gene PSMA5 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. USP51 facilitates colorectal cancer stemness and chemoresistance by forming a positive feed-forward loop with HIF1A. Mu M, et al. Cell Death Differ, 2023 Nov. PMID 37816999, Free PMC Article
    2. The role of USP51 in attenuating chemosensitivity of lung cancer cells to cisplatin by regulating DNA damage response. Zhou F, et al. Biotechnol Appl Biochem, 2023 Apr. PMID 35856403
    3. USP51 promotes non-small cell lung carcinoma cell stemness by deubiquitinating TWIST1. Chen J, et al. J Transl Med, 2023 Jul 8. PMID 37422632, Free PMC Article
    4. FAT4-USP51 complex regulates the proliferation and invasion of endometrial cancer via Hippo pathway. Che X, et al. Am J Transl Res, 2019. PMID 31217854, Free PMC Article
    5. Knockdown of ubiquitin‑specific protease 51 attenuates cisplatin resistance in lung cancer through ubiquitination of zinc‑finger E‑box binding homeobox 1. Zhou F, et al. Mol Med Rep, 2020 Aug. PMID 32468048, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. USP51 facilitates colorectal cancer stemness and chemoresistance by forming a positive feed-forward loop with HIF1A.
      Title: USP51 facilitates colorectal cancer stemness and chemoresistance by forming a positive feed-forward loop with HIF1A.
    2. USP51 promotes non-small cell lung carcinoma cell stemness by deubiquitinating TWIST1.
      Title: USP51 promotes non-small cell lung carcinoma cell stemness by deubiquitinating TWIST1.
    3. The role of USP51 in attenuating chemosensitivity of lung cancer cells to cisplatin by regulating DNA damage response.
      Title: The role of USP51 in attenuating chemosensitivity of lung cancer cells to cisplatin by regulating DNA damage response.
    4. CDK4/6 inhibition blocks cancer metastasis through a USP51-ZEB1-dependent deubiquitination mechanism.
      Title: CDK4/6 inhibition blocks cancer metastasis through a USP51-ZEB1-dependent deubiquitination mechanism.
    5. ATXN7L3 and ENY2 orchestrate activities of multiple deubiquitinating enzymes, including USP27x and USP51, and that imbalances in these activities likely potentiate human diseases including cancer.
      Title: ATXN7L3 and ENY2 Coordinate Activity of Multiple H2B Deubiquitinases Important for Cellular Proliferation and Tumor Growth.
    6. USP51 is the deubiquitylating enzyme for H2AK13,15ub and regulates DNA damage response
      Title: USP51 deubiquitylates H2AK13,15ub and regulates DNA damage response.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of smoking behaviours among Bangladeshi adults.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cysteine-type deubiquitinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone H2A deubiquitinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA repair-dependent chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein deubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cell cycle process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of double-strand break repair via nonhomologous end joining IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IC
    Inferred by Curator
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ubiquitin carboxyl-terminal hydrolase 51
    Names
    deubiquitinating enzyme 51
    ubiquitin thioesterase 51
    ubiquitin thiolesterase 51
    ubiquitin-specific-processing protease 51
    NP_958443.1
    XP_016884789.1
    XP_016884790.1
    XP_047297826.1
    XP_054182529.1
    XP_054182530.1

    NCBI Reference Sequences (RefSeq)

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    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_021371.1 RefSeqGene

      Range
      4351..9583
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_201286.4 → NP_958443.1  ubiquitin carboxyl-terminal hydrolase 51

      See identical proteins and their annotated locations for NP_958443.1

      Status: VALIDATED

      Source sequence(s)
      AL590410
      Consensus CDS
      CCDS14370.1
      UniProtKB/Swiss-Prot
      Q70EK9, Q8IWJ8
      Related
      ENSP00000423333.2, ENST00000500968.4
      Conserved Domains (3) summary
      cd02660
      Location:363 → 704
      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 ...
      pfam00443
      Location:362 → 703
      UCH; Ubiquitin carboxyl-terminal hydrolase
      pfam02148
      Location:236 → 296
      zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein

    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
      55484616..55489848 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029301.2 → XP_016884790.1  ubiquitin carboxyl-terminal hydrolase 51 isoform X1

      UniProtKB/Swiss-Prot
      Q70EK9, Q8IWJ8
      Conserved Domains (3) summary
      cd02660
      Location:363 → 704
      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 ...
      pfam00443
      Location:362 → 703
      UCH; Ubiquitin carboxyl-terminal hydrolase
      pfam02148
      Location:236 → 296
      zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein

    2. XM_017029300.2 → XP_016884789.1  ubiquitin carboxyl-terminal hydrolase 51 isoform X1

      UniProtKB/Swiss-Prot
      Q70EK9, Q8IWJ8
      Conserved Domains (3) summary
      cd02660
      Location:363 → 704
      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 ...
      pfam00443
      Location:362 → 703
      UCH; Ubiquitin carboxyl-terminal hydrolase
      pfam02148
      Location:236 → 296
      zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein

    3. XM_047441870.1 → XP_047297826.1  ubiquitin carboxyl-terminal hydrolase 51 isoform X1

      UniProtKB/Swiss-Prot
      Q70EK9, Q8IWJ8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      54776519..54781751
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326554.1 → XP_054182529.1  ubiquitin carboxyl-terminal hydrolase 51 isoform X1

      UniProtKB/Swiss-Prot
      Q70EK9, Q8IWJ8

    2. XM_054326555.1 → XP_054182530.1  ubiquitin carboxyl-terminal hydrolase 51 isoform X1

      UniProtKB/Swiss-Prot
      Q70EK9, Q8IWJ8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q70EK9.1 GenPept UniProtKB/Swiss-Prot:Q70EK9

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