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

Gene ID: 7874, updated on 13-Jan-2019

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
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
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

Genomic context

See USP7 in Genome Data Viewer
Location:
16p13.2
Exon count:
35
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (8892094..8963912, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (8985951..9057341, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100130283 Neighboring gene calcium regulated heat stable protein 1 Neighboring gene lipopolysaccharide-induced tumor necrosis factor-alpha factor-like Neighboring gene uncharacterized LOC105371074 Neighboring gene chromosome 16 open reading frame 72 Neighboring gene Sharpr-MPRA regulatory region 4742/14408

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • 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...
  • Dual incision in TC-NER, organism-specific biosystem (from REACTOME)
    Dual incision in TC-NER, organism-specific biosystemIn transcription-coupled nucleotide excision repair (TC-NER), similar to global genome nucleotide excision repair (GG-NER), the oligonucleotide that contains the lesion is excised from the open bubbl...
  • Epstein-Barr virus infection, organism-specific biosystem (from KEGG)
    Epstein-Barr virus infection, organism-specific biosystemEpstein-Barr virus (EBV) is a ubiquitous human herpesvirus that is associated with oncogenesis. EBV infection to primary human B lymphocytes leads to induction of EBV-specific HLA-restricted cytotoxi...
  • Epstein-Barr virus infection, conserved biosystem (from KEGG)
    Epstein-Barr virus infection, conserved biosystemEpstein-Barr virus (EBV) is a ubiquitous human herpesvirus that is associated with oncogenesis. EBV infection to primary human B lymphocytes leads to induction of EBV-specific HLA-restricted cytotoxi...
  • Formation of TC-NER Pre-Incision Complex, organism-specific biosystem (from REACTOME)
    Formation of TC-NER Pre-Incision Complex, organism-specific biosystemFormation of TC-NER pre-incision complex is initiated when the RNA polymerase II (RNA Pol II) complex stalls at a DNA damage site. The stalling is caused by misincorporation of a ribonucleotide oppos...
  • FoxO family signaling, organism-specific biosystem (from Pathway Interaction Database)
    FoxO family signaling, organism-specific biosystem
    FoxO family signaling
  • FoxO signaling pathway, organism-specific biosystem (from KEGG)
    FoxO signaling pathway, organism-specific biosystemThe forkhead box O (FOXO) family of transcription factors regulates the expression of genes in cellular physiological events including apoptosis, cell-cycle control, glucose metabolism, oxidative str...
  • Gap-filling DNA repair synthesis and ligation in TC-NER, organism-specific biosystem (from REACTOME)
    Gap-filling DNA repair synthesis and ligation in TC-NER, organism-specific biosystemIn transcription-coupled nucleotide excision repair (TC-NER), similar to global genome nucleotide excision repair (GG-NER), DNA polymerases delta or epsilon, or the Y family DNA polymerase kappa, fil...
  • 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...
  • Herpes simplex infection, organism-specific biosystem (from KEGG)
    Herpes simplex infection, organism-specific biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
  • Herpes simplex infection, conserved biosystem (from KEGG)
    Herpes simplex infection, conserved biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
  • 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.
  • Nucleotide Excision Repair, organism-specific biosystem (from REACTOME)
    Nucleotide Excision Repair, organism-specific biosystemNucleotide excision repair (NER) was first described in the model organism E. coli in the early 1960s as a process whereby bulky base damage is enzymatically removed from DNA, facilitating the recove...
  • 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...
  • Regulation of TP53 Activity, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Activity, organism-specific biosystemProtein stability and transcriptional activity of TP53 (p53) tumor suppressor are regulated by post-translational modifications that include ubiquitination, phosphorylation, acetylation, methylation,...
  • Regulation of TP53 Degradation, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Degradation, organism-specific biosystemIn unstressed cells, TP53 (p53) has a short half-life as it undergoes rapid ubiquitination and proteasome-mediated degradation. The E3 ubiquitin ligase MDM2, which is a transcriptional target of TP53...
  • Regulation of TP53 Expression and Degradation, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Expression and Degradation, organism-specific biosystemTP53 (p53) tumor suppressor protein is a transcription factor that functions as a homotetramer (Jeffrey et al. 1995). The protein levels of TP53 are low in unstressed cells due to MDM2-mediated ubiqu...
  • Regulation of toll-like receptor signaling pathway, organism-specific biosystem (from WikiPathways)
    Regulation of toll-like receptor signaling pathway, organism-specific biosystem
    Regulation of toll-like receptor signaling pathway
  • 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...
  • Transcription-Coupled Nucleotide Excision Repair (TC-NER), organism-specific biosystem (from REACTOME)
    Transcription-Coupled Nucleotide Excision Repair (TC-NER), organism-specific biosystemDNA damage in transcribed strands of active genes is repaired through a specialized nucleotide excision repair (NER) pathway known as transcription-coupled nucleotide excision repair (TC-NER). TC-NER...
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
    Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
  • 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...
  • Viral carcinogenesis, organism-specific biosystem (from KEGG)
    Viral carcinogenesis, organism-specific biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
  • Viral carcinogenesis, conserved biosystem (from KEGG)
    Viral carcinogenesis, conserved biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
  • p53 pathway, organism-specific biosystem (from Pathway Interaction Database)
    p53 pathway, organism-specific biosystem
    p53 pathway

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Lys48-specific deubiquitinase activity IDA
Inferred from Direct Assay
more info
PubMed 
cysteine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cysteine-type endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
p53 binding IDA
Inferred from Direct Assay
more info
PubMed 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IDA
Inferred from Direct Assay
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity TAS
Traceable Author Statement
more info
 
thiol-dependent ubiquitinyl hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
thiol-dependent ubiquitinyl hydrolase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
thiol-dependent ubiquitinyl hydrolase activity TAS
Traceable Author Statement
more info
 
transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitinyl hydrolase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
histone H2B conserved C-terminal lysine deubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
 
maintenance of DNA methylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
monoubiquitinated protein deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of NF-kappaB transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of DNA demethylation IDA
Inferred from Direct Assay
more info
PubMed 
protein K48-linked deubiquitination IEA
Inferred from Electronic Annotation
more info
 
protein deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein deubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein deubiquitination TAS
Traceable Author Statement
more info
 
protein stabilization IDA
Inferred from Direct Assay
more info
PubMed 
protein stabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of protein stability IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of telomere capping TAS
Traceable Author Statement
more info
PubMed 
transcription-coupled nucleotide-excision repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription-coupled nucleotide-excision repair TAS
Traceable Author Statement
more info
 
ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
PML body IEA
Inferred from Electronic Annotation
more info
 
chromosome IEA
Inferred from Electronic Annotation
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nuclear body HDA PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus HDA PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ubiquitin carboxyl-terminal hydrolase 7
Names
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_001273386.1
NP_001273387.1
NP_001308787.1
NP_003461.2
XP_016879141.1
XP_016879142.1

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_046847.1 RefSeqGene

    Range
    5001..76391
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001286457.1NP_001273386.1  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, AK316441
    Consensus CDS
    CCDS66941.1
    UniProtKB/TrEMBL
    B7ZAX6
    Related
    ENSP00000371310.4, ENST00000381886.8
    Conserved Domains (5) summary
    COG5077
    Location:391084
    COG5077; Ubiquitin carboxyl-terminal hydrolase [Posttranslational modification, protein turnover, chaperones]
    cd02659
    Location:196507
    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:51186
    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:604849
    USP7_ICP0_bdg; ICP0-binding domain of Ubiquitin-specific protease 7
    pfam14533
    Location:8591070
    USP7_C2; Ubiquitin-specific protease C-terminal
  2. NM_001286458.1NP_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, AK302912, AK316441
    UniProtKB/TrEMBL
    B7Z855, B7ZAX6
    Related
    ENSP00000454795.1, ENST00000563085.5
    Conserved Domains (1) summary
    cl02553
    Location:61001
    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 ...
  3. NM_001321858.1NP_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/Swiss-Prot
    Q93009
    UniProtKB/TrEMBL
    Q6U8A4
    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
    Q93009
    UniProtKB/TrEMBL
    Q6U8A4
    Related
    ENSP00000343535.4, ENST00000344836.8
    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_135826.1 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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    8892094..8963912 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023652.1XP_016879141.1  ubiquitin carboxyl-terminal hydrolase 7 isoform X1

  2. XM_017023653.2XP_016879142.1  ubiquitin carboxyl-terminal hydrolase 7 isoform X2

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