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    USP7 ubiquitin specific peptidase 7 [ Homo sapiens (human) ]

    Gene ID: 7874, updated on 17-Jun-2024

    Summary

    Official Symbol
    USP7provided by HGNC
    Official Full Name
    ubiquitin specific peptidase 7provided by HGNC
    Primary source
    HGNC:HGNC:12630
    See related
    Ensembl:ENSG00000187555 MIM:602519; AllianceGenome:HGNC:12630
    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
    TEF1; HAUSP; HAFOUS; DEL16P13.2; C16DELp13.2
    Summary
    The protein encoded by this gene belongs to the peptidase C19 family, which includes ubiquitinyl hydrolases. This protein deubiquitinates target proteins such as p53 (a tumor suppressor protein) and WASH (essential for endosomal protein recycling), and regulates their activities by counteracting the opposing ubiquitin ligase activity of proteins such as HDM2 and TRIM27, involved in the respective process. Mutations in this gene have been implicated in a neurodevelopmental disorder. [provided by RefSeq, Mar 2016]
    Expression
    Ubiquitous expression in testis (RPKM 31.0), lymph node (RPKM 24.1) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See USP7 in Genome Data Viewer
    Location:
    16p13.2
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (8892097..8963906, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (8924836..8996578, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (8985954..9057763, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7181 Neighboring gene CARHSP1 divergent transcript Neighboring gene ReSE screen-validated silencer GRCh37_chr16:8971783-8971898 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10357 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:8976345-8976845 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:8981773-8982615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10359 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10361 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:8997705-8998206 Neighboring gene LITAF domain containing Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10364 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:9047245-9048444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10365 Neighboring gene Sharpr-MPRA regulatory region 8678 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10367 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:9056134-9056670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7183 Neighboring gene hESC enhancers GRCh37_chr16:9059367-9059990 and GRCh37_chr16:9059991-9060614 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:9060615-9061236 Neighboring gene USP7 antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:9077187-9078074 Neighboring gene Sharpr-MPRA regulatory region 2468 Neighboring gene Sharpr-MPRA regulatory region 11265 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:9102552-9103123 Neighboring gene Sharpr-MPRA regulatory region 10025 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:9120319-9120818 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:9141017-9142216 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:9143640-9144432 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:9144433-9145223 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:9146779-9147316 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:9161527-9162726 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10372 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:9183666-9184531 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7184 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7185 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10373 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:9191093-9191592 Neighboring gene HUWE1 associated protein modifying stress responses Neighboring gene Sharpr-MPRA regulatory region 1845 Neighboring gene Sharpr-MPRA regulatory region 9627 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:9220895-9222094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7187 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:9230549-9231049 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:9242515-9243086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:9247929-9248564 Neighboring gene ribosomal protein L21 pseudogene 119

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in DNA alkylation repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within monoubiquitinated protein deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of TORC1 signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of gene expression via chromosomal CpG island methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of gluconeogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein deubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein deubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein ubiquitination TAS
    Traceable Author Statement
    more info
     
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of circadian rhythm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of protein stability IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of protein stability IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of retrograde transport, endosome to Golgi IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of signal transduction by p53 class mediator TAS
    Traceable Author Statement
    more info
     
    involved_in regulation of telomere capping TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in rhythmic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in symbiont-mediated disruption of host cell PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transcription-coupled nucleotide-excision repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nuclear body HDA PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    ubiquitin carboxyl-terminal hydrolase 7
    Names
    Chromosome 16p13.2 deletion syndrome
    Herpes virus-associated ubiquitin-specific protease
    deubiquitinating enzyme 7
    ubiquitin specific peptidase 7 (herpes virus-associated)
    ubiquitin specific protease 7 (herpes virus-associated)
    ubiquitin thioesterase 7
    ubiquitin-specific-processing protease 7
    NP_001273386.2
    NP_001273387.1
    NP_001308787.1
    NP_003461.2
    XP_047290561.1
    XP_054169857.1

    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_046847.1 RefSeqGene

      Range
      4579..76388
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001286457.2NP_001273386.2  ubiquitin carboxyl-terminal hydrolase 7 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC022167
      Consensus CDS
      CCDS66941.1
      UniProtKB/TrEMBL
      B7ZAX6
      Related
      ENSP00000371310.4, ENST00000381886.8
      Conserved Domains (1) summary
      COG5077
      Location:391084
      COG5077; Ubiquitin carboxyl-terminal hydrolase [Posttranslational modification, protein turnover, chaperones]
    2. NM_001286458.2NP_001273387.1  ubiquitin carboxyl-terminal hydrolase 7 isoform 3

      See identical proteins and their annotated locations for NP_001273387.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon and an additional internal exon, which results in translation initiation from an in-frame downstream start codon compared to variant 1. The resulting isoform (3) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC022167
      UniProtKB/TrEMBL
      B7Z855
      Related
      ENSP00000454795.1, ENST00000563085.5
      Conserved Domains (1) summary
      COG5077
      Location:61001
      COG5077; Ubiquitin carboxyl-terminal hydrolase [Posttranslational modification, protein turnover, chaperones]
    3. NM_001321858.2NP_001308787.1  ubiquitin carboxyl-terminal hydrolase 7 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' terminal exon, which results in translation initiation from an in-frame downstream start codon compared to variant 1. The resulting isoform (4) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC022167, AY376241, BM661563, DC403095, Z72499
      UniProtKB/TrEMBL
      B7Z855
      Conserved Domains (1) summary
      cl02553
      Location:21042
      Peptidase_C19; Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyse bonds involving the carboxyl group of the C-terminal Gly ...
    4. NM_003470.3NP_003461.2  ubiquitin carboxyl-terminal hydrolase 7 isoform 1

      See identical proteins and their annotated locations for NP_003461.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC022167, AY376241, Z72499
      Consensus CDS
      CCDS32385.1
      UniProtKB/Swiss-Prot
      A6NMY8, B7Z815, H0Y3G8, Q93009
      UniProtKB/TrEMBL
      B7ZAX6
      Related
      ENSP00000343535.4, ENST00000344836.9
      Conserved Domains (5) summary
      COG5077
      Location:551100
      COG5077; Ubiquitin carboxyl-terminal hydrolase [Posttranslational modification, protein turnover, chaperones]
      cd02659
      Location:212523
      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 ...
      cd03772
      Location:67202
      MATH_HAUSP; Herpesvirus-associated ubiquitin-specific protease (HAUSP, also known as USP7) family, N-terminal MATH (TRAF-like) domain; composed of proteins similar to human HAUSP, an enzyme that specifically catalyzes the deubiquitylation of p53 and MDM2, hence ...
      pfam12436
      Location:620865
      USP7_ICP0_bdg; ICP0-binding domain of Ubiquitin-specific protease 7
      pfam14533
      Location:8751086
      USP7_C2; Ubiquitin-specific protease C-terminal

    RNA

    1. NR_135826.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate 5' terminal exon compared to variant 1. It is represented as non-coding because the use of the 5'-most expected translational start codon renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC022167, AK302872, AY376241, BM661563, DC403559, Z72499

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      8892097..8963906 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434605.1XP_047290561.1  ubiquitin carboxyl-terminal hydrolase 7 isoform X1

      UniProtKB/TrEMBL
      B7Z855
      Related
      ENSP00000501290.1, ENST00000673704.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      8924836..8996578 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313882.1XP_054169857.1  ubiquitin carboxyl-terminal hydrolase 7 isoform X1

      UniProtKB/TrEMBL
      B7Z855