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, involve... See more...

Aliases for USP7 Gene

Aliases for USP7 Gene

  • Ubiquitin Specific Peptidase 7 2 3 5
  • Ubiquitin Specific Peptidase 7 (Herpes Virus-Associated) 2 3
  • Ubiquitin-Specific-Processing Protease 7 3 4
  • Ubiquitin Carboxyl-Terminal Hydrolase 7 3 4
  • Deubiquitinating Enzyme 7 3 4
  • Ubiquitin Thioesterase 7 3 4
  • HAUSP 3 4
  • Ubiquitin Specific Protease 7 (Herpes Virus-Associated) 3
  • Herpes Virus-Associated Ubiquitin-Specific Protease 3
  • Herpesvirus-Associated Ubiquitin-Specific Protease 4
  • EC 3.4.19.12 4
  • EC 3.1.2.15 54
  • TEF1 3

External Ids for USP7 Gene

Previous HGNC Symbols for USP7 Gene

  • HAUSP

Previous GeneCards Identifiers for USP7 Gene

  • GC16M008792
  • GC16M009087
  • GC16M008953
  • GC16M008954
  • GC16M008894
  • GC16M008985
  • GC16M008907

Summaries for USP7 Gene

Entrez Gene Summary for USP7 Gene

  • 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]

GeneCards Summary for USP7 Gene

USP7 (Ubiquitin Specific Peptidase 7) is a Protein Coding gene. Diseases associated with USP7 include Chromosome 16P13.2 Deletion Syndrome and Uv-Sensitive Syndrome. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Regulation of TP53 Activity. Gene Ontology (GO) annotations related to this gene include transcription factor binding and protein C-terminus binding. An important paralog of this gene is USP48.

UniProtKB/Swiss-Prot Summary for USP7 Gene

  • Hydrolase that deubiquitinates target proteins such as FOXO4, p53/TP53, MDM2, ERCC6, DNMT1, UHRF1, PTEN, KMT2E/MLL5 and DAXX (PubMed:11923872, PubMed:15053880, PubMed:16964248, PubMed:18716620, PubMed:25283148, PubMed:26678539). Together with DAXX, prevents MDM2 self-ubiquitination and enhances the E3 ligase activity of MDM2 towards p53/TP53, thereby promoting p53/TP53 ubiquitination and proteasomal degradation (PubMed:15053880, PubMed:16845383, PubMed:18566590, PubMed:20153724). Deubiquitinates p53/TP53, preventing degradation of p53/TP53, and enhances p53/TP53-dependent transcription regulation, cell growth repression and apoptosis (PubMed:25283148). Deubiquitinates p53/TP53 and MDM2 and strongly stabilizes p53/TP53 even in the presence of excess MDM2, and also induces p53/TP53-dependent cell growth repression and apoptosis (PubMed:11923872). Deubiquitination of FOXO4 in presence of hydrogen peroxide is not dependent on p53/TP53 and inhibits FOXO4-induced transcriptional activity (PubMed:16964248). In association with DAXX, is involved in the deubiquitination and translocation of PTEN from the nucleus to the cytoplasm, both processes that are counteracted by PML (PubMed:18716620). Deubiquitinates KMT2E/MLL5 preventing KMT2E/MLL5 proteasomal-mediated degradation (PubMed:26678539). Involved in cell proliferation during early embryonic development. Involved in transcription-coupled nucleotide excision repair (TC-NER) in response to UV damage: recruited to DNA damage sites following interaction with KIAA1530/UVSSA and promotes deubiquitination of ERCC6, preventing UV-induced degradation of ERCC6 (PubMed:22466611, PubMed:22466612). Involved in maintenance of DNA methylation via its interaction with UHRF1 and DNMT1: acts by mediating deubiquitination of UHRF1 and DNMT1, preventing their degradation and promoting DNA methylation by DNMT1 (PubMed:21745816, PubMed:22411829). Deubiquitinates alkylation repair enzyme ALKBH3. OTUD4 recruits USP7 and USP9X to stabilize ALKBH3, thereby promoting the repair of alkylated DNA lesions (PubMed:25944111). Acts as a chromatin regulator via its association with the Polycomb group (PcG) multiprotein PRC1-like complex; may act by deubiquitinating components of the PRC1-like complex (PubMed:20601937). Able to mediate deubiquitination of histone H2B; it is however unsure whether this activity takes place in vivo (PubMed:20601937). Exhibits a preference towards 'Lys-48'-linked ubiquitin chains (PubMed:22689415). Increases regulatory T-cells (Treg) suppressive capacity by deubiquitinating and stabilizing the transcription factor FOXP3 which is crucial for Treg cell function (PubMed:23973222). Plays a role in the maintenance of the circadian clock periodicity via deubiquitination and stabilization of the CRY1 and CRY2 proteins (PubMed:27123980). Deubiquitinates REST, thereby stabilizing REST and promoting the maintenance of neural progenitor cells (PubMed:21258371).
  • (Microbial infection) Contributes to the overall stabilization and trans-activation capability of the herpesvirus 1 trans-acting transcriptional protein ICP0/VMW110 during HSV-1 infection.

Tocris Summary for USP7 Gene

  • Deubiquitinating enzymes (DUBs) are a group of proteases that catalyze the cleavage of protein-ubiquitin bonds. By removing these modifications, DUBs counteract the activity of ubiquitin ligases, which add ubiquitin molecules to target proteins.

Gene Wiki entry for USP7 Gene

Additional gene information for USP7 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for USP7 Gene

Genomics for USP7 Gene

GeneHancer (GH) Regulatory Elements for USP7 Gene

Promoters and enhancers for USP7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around USP7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the USP7 gene promoter:
  • AREB6
  • Arnt
  • c-Myc
  • E47
  • Max
  • Max1
  • NF-kappaB1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for USP7 Gene

Genomic Locations for USP7 Gene
chr16:8,892,094-8,964,514
(GRCh38/hg38)
Size:
72,421 bases
Orientation:
Minus strand
chr16:8,985,951-9,058,371
(GRCh37/hg19)
Size:
72,421 bases
Orientation:
Minus strand

Genomic View for USP7 Gene

Genes around USP7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
USP7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for USP7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USP7 Gene

Proteins for USP7 Gene

  • Protein details for USP7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q93009-UBP7_HUMAN
    Recommended name:
    Ubiquitin carboxyl-terminal hydrolase 7
    Protein Accession:
    Q93009
    Secondary Accessions:
    • A6NMY8
    • B7Z815
    • H0Y3G8

    Protein attributes for USP7 Gene

    Size:
    1102 amino acids
    Molecular mass:
    128302 Da
    Quaternary structure:
    • Monomer. Homodimer. Part of a complex with DAXX, MDM2, RASSF1 and USP7 (PubMed:18566590). Part of a complex with DAXX, MDM2 and USP7 (PubMed:16845383). Interacts with MDM2; the interaction is independent of p53/TP53. Interacts with DAXX; the interaction is direct and independent of MDM2 and p53/TP53 (PubMed:16845383). Component of a complex composed of KMT2E/MLL5 (isoform 3), OGT (isoform 1) and USP7; the complex stabilizes KMT2E/MLL5, preventing KMT2E/MLL5 ubiquitination and proteosomal-mediated degradation (PubMed:26678539). Interacts (via MATH domain) with KMT2E/MLL5 isoform 3 (PubMed:26678539). Interacts with OGT isoform 1 (PubMed:26678539). Interacts with FOXO4; the interaction is enhanced in presence of hydrogen peroxide and occurs independently of p53/TP53 (PubMed:16964248). Interacts with p53/TP53; the interaction is enhanced in response to DNA damage (PubMed:25283148). Interacts with TSPYL5; this impairs interaction with p53/TP53 (PubMed:21170034). Interacts with PTEN; the interaction is direct (PubMed:18716620). Interacts with ATXN1 and the strength of interaction is influenced by the length of the poly-Gln region in ATXN1 (PubMed:12093161). A weaker interaction seen with mutants having longer poly-Gln regions (PubMed:12093161). Interacts with KIAA1530/UVSSA (PubMed:22466611, PubMed:22466612). Interacts with ABRAXAS2; the interaction is direct (PubMed:25283148). Identified in a complex with TP53/p53 and ABRAXAS2 (PubMed:25283148). Interacts with MEX3C and antagonizes its ability to degrade mRNA (PubMed:22863774). Interacts with DNMT1 and UHRF1 (PubMed:21745816, PubMed:22411829). Interacts with FOXP3 (PubMed:23973222). Interacts (via MATH domain) with RNF220. Associated component of the Polycomb group (PcG) multiprotein PRC1-like complex (PubMed:20601937). Interacts with EPOP (By similarity). Interacts with OTUD4 and USP9X; the interaction is direct (PubMed:25944111). Interacts with CRY2 (PubMed:27123980). Interacts with REST (PubMed:21258371).
    • (Microbial infection) Isoform 1 and isoform 2 interact with herpesvirus 1 trans-acting transcriptional protein ICP0/VMW110 (PubMed:9034339, PubMed:14506283, PubMed:16160161, PubMed:18590780). Binding to ICP0/VMW110 may modulate the substrate specificity or activity of USP7 to stabilize viral proteins.
    • (Microbial infection) Interacts with Epstein-Barr virus EBNA1. EBNA1 shows a 10-fold higher affinity than p53/TP53 and can compete with it for USP7 binding.

    Three dimensional structures from OCA and Proteopedia for USP7 Gene

    Alternative splice isoforms for USP7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for USP7 Gene

Selected DME Specific Peptides for USP7 Gene

Q93009:
  • YPDRPHQKSVGFFLQCNAESDSTSWSCHAQAVLKIINY
  • NEDEYEVNLKDFEPQPGNMSHPRPWLGLDHFNKAPK
  • RLSESVLSPPCFVRNLPWKIMVMPR
  • EEDMEDDTSWRSEATFQFTVERF
  • HFREVMKRIQ
  • LILYEEVKPNLTERIQDYDVSLDKALDELMDGDIIVFQKD
  • ESKLSEV
  • QRVFYELQ
  • YPDKHGCVRDLLEECKK
  • DYVAVEQLDGDNKYDAGEHGLQEAEKGVKFLTLPPVLHLQ
  • GATLPKFDKDHDVMLFLKMYDPKTRSLNYCGHIYTPISCK
  • WDSKKHTG
  • DKVTFEV
  • LTKSFGW
  • ALQRVFY
  • CRVLLDN
  • GEQQLSEPEDMEMEAGD
  • EDYYDIQLSIKGKKNIFESF
  • LHAVLVH
  • DSFMQHD
  • SVPLALQR
  • RVDVIFCDKTIPNDPGFVVTLSNRMNYFQVAKTVAQRLNT
  • KFDDDVVS
  • SELPTAKEYFRDLY
  • NAYMLVY
  • WLNSQFREEEIT
  • LDIQEKEFEKFKFAIVMMGRH

Post-translational modifications for USP7 Gene

  • Isoform 1: Phosphorylated. Isoform 1 is phosphorylated at positions Ser-18 and Ser-963. Isoform 2: Not phosphorylated.
  • Isoform 1: Polyneddylated. Isoform 2: Not Polyneddylated.
  • Isoform 1 and isoform 2: Not sumoylated.
  • Isoform 1 and isoform 2: Polyubiquitinated by herpesvirus 1 trans-acting transcriptional protein ICP0/VMW110; leading to its subsequent proteasomal degradation. Isoform 1: Ubiquitinated at Lys-869.
  • Ubiquitination at Lys98, Lys148, Lys335, Lys420, Lys476, Lys479, Lys490, Lys523, Lys824, Lys841, Lys882, Lys934, Lys1033, and Lys1096
  • Modification sites at PhosphoSitePlus

Domains & Families for USP7 Gene

Gene Families for USP7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for USP7 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50426, highly similar to Ubiquitin carboxyl-terminal hydrolase 7 (EC 3.1.2.15) (B7Z7T5_HUMAN)
  • Ubiquitin carboxyl-terminal hydrolase (F5H8E5_HUMAN)
  • Ubiquitin-specific-processing protease 7 (UBP7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q93009

UniProtKB/Swiss-Prot:

UBP7_HUMAN :
  • The C-terminus plays a role in its oligomerization.
  • Belongs to the peptidase C19 family.
Domain:
  • The C-terminus plays a role in its oligomerization.
Family:
  • Belongs to the peptidase C19 family.
genes like me logo Genes that share domains with USP7: view

Function for USP7 Gene

Molecular function for USP7 Gene

UniProtKB/Swiss-Prot Function:
Hydrolase that deubiquitinates target proteins such as FOXO4, p53/TP53, MDM2, ERCC6, DNMT1, UHRF1, PTEN, KMT2E/MLL5 and DAXX (PubMed:11923872, PubMed:15053880, PubMed:16964248, PubMed:18716620, PubMed:25283148, PubMed:26678539). Together with DAXX, prevents MDM2 self-ubiquitination and enhances the E3 ligase activity of MDM2 towards p53/TP53, thereby promoting p53/TP53 ubiquitination and proteasomal degradation (PubMed:15053880, PubMed:16845383, PubMed:18566590, PubMed:20153724). Deubiquitinates p53/TP53, preventing degradation of p53/TP53, and enhances p53/TP53-dependent transcription regulation, cell growth repression and apoptosis (PubMed:25283148). Deubiquitinates p53/TP53 and MDM2 and strongly stabilizes p53/TP53 even in the presence of excess MDM2, and also induces p53/TP53-dependent cell growth repression and apoptosis (PubMed:11923872). Deubiquitination of FOXO4 in presence of hydrogen peroxide is not dependent on p53/TP53 and inhibits FOXO4-induced transcriptional activity (PubMed:16964248). In association with DAXX, is involved in the deubiquitination and translocation of PTEN from the nucleus to the cytoplasm, both processes that are counteracted by PML (PubMed:18716620). Deubiquitinates KMT2E/MLL5 preventing KMT2E/MLL5 proteasomal-mediated degradation (PubMed:26678539). Involved in cell proliferation during early embryonic development. Involved in transcription-coupled nucleotide excision repair (TC-NER) in response to UV damage: recruited to DNA damage sites following interaction with KIAA1530/UVSSA and promotes deubiquitination of ERCC6, preventing UV-induced degradation of ERCC6 (PubMed:22466611, PubMed:22466612). Involved in maintenance of DNA methylation via its interaction with UHRF1 and DNMT1: acts by mediating deubiquitination of UHRF1 and DNMT1, preventing their degradation and promoting DNA methylation by DNMT1 (PubMed:21745816, PubMed:22411829). Deubiquitinates alkylation repair enzyme ALKBH3. OTUD4 recruits USP7 and USP9X to stabilize ALKBH3, thereby promoting the repair of alkylated DNA lesions (PubMed:25944111). Acts as a chromatin regulator via its association with the Polycomb group (PcG) multiprotein PRC1-like complex; may act by deubiquitinating components of the PRC1-like complex (PubMed:20601937). Able to mediate deubiquitination of histone H2B; it is however unsure whether this activity takes place in vivo (PubMed:20601937). Exhibits a preference towards 'Lys-48'-linked ubiquitin chains (PubMed:22689415). Increases regulatory T-cells (Treg) suppressive capacity by deubiquitinating and stabilizing the transcription factor FOXP3 which is crucial for Treg cell function (PubMed:23973222). Plays a role in the maintenance of the circadian clock periodicity via deubiquitination and stabilization of the CRY1 and CRY2 proteins (PubMed:27123980). Deubiquitinates REST, thereby stabilizing REST and promoting the maintenance of neural progenitor cells (PubMed:21258371).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Contributes to the overall stabilization and trans-activation capability of the herpesvirus 1 trans-acting transcriptional protein ICP0/VMW110 during HSV-1 infection.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).; EC=3.4.19.12; Evidence={ECO:0000269 PubMed:11923872, ECO:0000269 PubMed:12507430, ECO:0000269 PubMed:14506283, ECO:0000269 PubMed:15053880, ECO:0000269 PubMed:16964248, ECO:0000269 PubMed:18716620, ECO:0000269 PubMed:21745816, ECO:0000269 PubMed:26678539};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by N-ethyl-maleimide (NEM) and divalent cations. Tolerates high concentrations of NaCl but is inhibited at concentrations of 195 mM and higher.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Active from pH 7.0 to 9.5. {ECO:0000269 PubMed:14506283};
UniProtKB/Swiss-Prot Induction:
Up-regulated in regulatory T-cells (Treg). Down-regulated during neural progenitor cell differentiation (PubMed:21258371).
GENATLAS Biochemistry:
ubiquitin-specific protease 7,cellular,135kDa,transitory component of discrete nuclear structures (ND10),binding herpes virus type 1 immediate early protein Vmw 110,stimulating viral gene expression,deubiquitin enzyme family

Enzyme Numbers (IUBMB) for USP7 Gene

Phenotypes From GWAS Catalog for USP7 Gene

Gene Ontology (GO) - Molecular Function for USP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002039 p53 binding IDA 20096447
GO:0004197 cysteine-type endopeptidase activity IMP 21745816
GO:0004843 thiol-dependent ubiquitin-specific protease activity TAS --
GO:0005515 protein binding IPI,IEA 11279055
GO:0008022 protein C-terminus binding IPI 12093161
genes like me logo Genes that share ontologies with USP7: view
genes like me logo Genes that share phenotypes with USP7: view

Animal Models for USP7 Gene

MGI Knock Outs for USP7:

Animal Model Products

  • Taconic Biosciences Mouse Models for USP7

CRISPR Products

Clone Products

  • Addgene plasmids for USP7

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for USP7 Gene

Localization for USP7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for USP7 Gene

Nucleus. Cytoplasm. Nucleus, PML body. Chromosome. Note=Present in a minority of ND10 nuclear bodies. Association with ICP0/VMW110 at early times of infection leads to an increased proportion of USP7-containing ND10. Colocalizes with ATXN1 in the nucleus. Colocalized with DAXX in speckled structures. Colocalized with PML and PTEN in promyelocytic leukemia protein (PML) nuclear bodies.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for USP7 gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 2
mitochondrion 1
endosome 1

Gene Ontology (GO) - Cellular Components for USP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,TAS 11279055
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with USP7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for USP7 Gene

Pathways & Interactions for USP7 Gene

genes like me logo Genes that share pathways with USP7: view

Pathways by source for USP7 Gene

SIGNOR curated interactions for USP7 Gene

Activates:

Gene Ontology (GO) - Biological Process for USP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006283 transcription-coupled nucleotide-excision repair TAS,IMP --
GO:0006508 proteolysis IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
genes like me logo Genes that share ontologies with USP7: view

Drugs & Compounds for USP7 Gene

(10) Drugs for USP7 Gene - From: ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
DUBs-IN-1 Pharma 0
DUBs-IN-2 Pharma deubiquitinase enzyme inhibitor 0
HBX 41108 Pharma 0
NSC 632839 hydrochloride Pharma Isopeptidases inhibitor 0

(1) Additional Compounds for USP7 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
NSC 624206
13116-77-3

(3) Tocris Compounds for USP7 Gene

Compound Action Cas Number
NSC 624206 Ubiquitin-activating enzyme (E1) inhibitor 13116-77-3
PYR 41 Ubiquitin-activating enzyme (E1) inhibitor 418805-02-4
PYZD 4409 Ubiquitin-activating enzyme (E1) inhibitor 423148-78-1

(7) ApexBio Compounds for USP7 Gene

Compound Action Cas Number
DUBs-IN-1 924296-18-4
DUBs-IN-2 deubiquitinase enzyme inhibitor 924296-19-5
HBX 41108 924296-39-9
NSC 632839 hydrochloride Isopeptidases inhibitor 157654-67-6
P 22077 USP7/(DUB)USP47 inhibitor 1247819-59-5
P005091 Ubiquitin-specific protease 7 (USP7) inhibitor 882257-11-6
USP7-USP47 inhibitor USP7/USP47 inhibitor 1247825-37-1
genes like me logo Genes that share compounds with USP7: view

Drug Products

Transcripts for USP7 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for USP7

Alternative Splicing Database (ASD) splice patterns (SP) for USP7 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20a · 20b · 20c ^ 21a ·
SP1: - - -
SP2: - - - -
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:

ExUns: 21b ^ 22a · 22b ^ 23 ^ 24a · 24b ^ 25a · 25b · 25c · 25d ^ 26a · 26b ^ 27 ^ 28a · 28b ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34a · 34b
SP1: - - - - - -
SP2: - - - - - -
SP3:
SP4:
SP5:
SP6: - -
SP7:
SP8: -
SP9: -
SP10: - -

Relevant External Links for USP7 Gene

GeneLoc Exon Structure for
USP7
ECgene alternative splicing isoforms for
USP7

Expression for USP7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for USP7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for USP7 Gene

This gene is overexpressed in Lymph node (9.8) and Peripheral blood mononuclear cells (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for USP7 Gene



Protein tissue co-expression partners for USP7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of USP7 Gene:

USP7

SOURCE GeneReport for Unigene cluster for USP7 Gene:

Hs.386939

mRNA Expression by UniProt/SwissProt for USP7 Gene:

Q93009-UBP7_HUMAN
Tissue specificity: Expressed in neural progenitor cells (at protein level) (PubMed:21258371). Widely expressed. Overexpressed in prostate cancer.

Evidence on tissue expression from TISSUES for USP7 Gene

  • Liver(4.5)
  • Nervous system(3.8)
  • Lung(3.4)
  • Eye(2.7)
  • Intestine(2.3)
genes like me logo Genes that share expression patterns with USP7: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for USP7 Gene

Orthologs for USP7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for USP7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia USP7 33 32
  • 99.76 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia USP7 33
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Usp7 17 33 32
  • 92.56 (n)
oppossum
(Monodelphis domestica)
Mammalia USP7 33
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Usp7 32
  • 91.77 (n)
dog
(Canis familiaris)
Mammalia USP7 33 32
  • 91.58 (n)
OneToOne
cow
(Bos Taurus)
Mammalia USP7 33 32
  • 90.65 (n)
OneToOne
chicken
(Gallus gallus)
Aves USP7 33 32
  • 85.95 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia USP7 33
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia usp7 32
  • 82.49 (n)
Str.80 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.29048 32
zebrafish
(Danio rerio)
Actinopterygii usp7 33 32
  • 79.53 (n)
OneToOne
Dr.17905 32
fruit fly
(Drosophila melanogaster)
Insecta Usp7 33 32
  • 55.02 (n)
OneToOne
Ubp64E 34
  • 38 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008530 32
  • 53.6 (n)
worm
(Caenorhabditis elegans)
Secernentea math-33 33 32
  • 48.03 (n)
OneToOne
H19N07.2b 34
  • 33 (a)
H19N07.2a 34
  • 33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBP15 35 33 32
  • 48.83 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL357W 32
  • 48.07 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons UBP13 32
  • 49.25 (n)
rice
(Oryza sativa)
Liliopsida Os12g0489100 32
  • 54.09 (n)
Os.2185 32
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 52 (a)
OneToOne
Cin.4025 32
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ubp15 32
  • 47.77 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03797 32
  • 47.75 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4025 32
Species where no ortholog for USP7 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for USP7 Gene

ENSEMBL:
Gene Tree for USP7 (if available)
TreeFam:
Gene Tree for USP7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for USP7: view image

Paralogs for USP7 Gene

(2) SIMAP similar genes for USP7 Gene using alignment to 13 proteins:

  • UBP7_HUMAN
  • B7Z815_HUMAN
  • F5H2X1_HUMAN
  • F5H8E5_HUMAN
  • H3BMF6_HUMAN
  • H3BND8_HUMAN
  • H3BQD1_HUMAN
  • H3BRA2_HUMAN
  • H3BRI4_HUMAN
  • H3BTM1_HUMAN
  • H3BUV0_HUMAN
  • H3BVA7_HUMAN
  • I3L2D8_HUMAN

Pseudogenes.org Pseudogenes for USP7 Gene

genes like me logo Genes that share paralogs with USP7: view

Variants for USP7 Gene

Sequence variations from dbSNP and Humsavar for USP7 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1555462347 likely-pathogenic, USP7-related condition 8,901,028(-) CTCT/CT coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1567227059 uncertain-significance, Central hypotonia, Complete duplication of proximal phalanx of the thumb, Delayed eruption of primary teeth, Generalized hypotonia, Macrocephalus, Moderate global developmental delay 8,923,214(-) C/G splice_donor_variant
rs769761004 uncertain-significance, Central hypotonia, Complete duplication of proximal phalanx of the thumb, Delayed eruption of primary teeth, Generalized hypotonia, Macrocephalus, Moderate global developmental delay 8,923,265(-) G/A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
rs756550597 uncertain-significance, not provided 8,921,250(-) G/A/C coding_sequence_variant, non_coding_transcript_variant, stop_gained, synonymous_variant
rs1555465642 not-provided, not provided 8,919,076(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for USP7 Gene

Variant ID Type Subtype PubMed ID
dgv2725n100 CNV gain 25217958
dgv2726n100 CNV gain 25217958
esv1715688 CNV insertion 17803354
esv26318 CNV loss 19812545
esv2665907 CNV deletion 23128226
esv27013 CNV gain 19812545
esv2763129 CNV gain 21179565
esv2763130 CNV gain 21179565
esv3310492 CNV novel sequence insertion 20981092
esv3451644 CNV insertion 20981092
esv3637851 CNV loss 21293372
esv3637852 CNV gain 21293372
esv3637854 CNV gain 21293372
esv3637855 CNV loss 21293372
esv3637856 CNV gain 21293372
esv987802 CNV insertion 20482838
nsv1040937 CNV gain 25217958
nsv1043528 CNV gain 25217958
nsv1070743 CNV deletion 25765185
nsv1112683 CNV deletion 24896259
nsv1126414 CNV deletion 24896259
nsv457394 CNV gain 19166990
nsv457399 CNV loss 19166990
nsv571424 CNV gain 21841781
nsv571429 CNV loss 21841781
nsv827548 CNV gain 20364138
nsv827549 CNV gain 20364138
nsv833135 CNV loss 17160897
nsv952917 CNV deletion 24416366

Variation tolerance for USP7 Gene

Residual Variation Intolerance Score: 1.77% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.66; 14.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for USP7 Gene

Human Gene Mutation Database (HGMD)
USP7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
USP7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for USP7 Gene

Disorders for USP7 Gene

MalaCards: The human disease database

(3) MalaCards diseases for USP7 Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
chromosome 16p13.2 deletion syndrome
  • 16p13.2 microdeletion syndrome
uv-sensitive syndrome
  • uv sensitive syndrome
brain cancer
  • adult brain tumor
- elite association - COSMIC cancer census association via MalaCards
Search USP7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for USP7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with USP7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for USP7 Gene

Publications for USP7 Gene

  1. The tumour suppressor RASSF1A promotes MDM2 self-ubiquitination by disrupting the MDM2-DAXX-HAUSP complex. (PMID: 18566590) Song MS … Lim DS (The EMBO journal 2008) 3 4 23 56
  2. The deubiquitinylation and localization of PTEN are regulated by a HAUSP-PML network. (PMID: 18716620) Song MS … Pandolfi PP (Nature 2008) 3 4 23 56
  3. Biochemical characterization of USP7 reveals post-translational modification sites and structural requirements for substrate processing and subcellular localization. (PMID: 17651432) Fernández-Montalván A … Gerhartz B (The FEBS journal 2007) 3 4 23 56
  4. Structural basis of competitive recognition of p53 and MDM2 by HAUSP/USP7: implications for the regulation of the p53-MDM2 pathway. (PMID: 16402859) Hu M … Shi Y (PLoS biology 2006) 3 4 23 56
  5. Molecular recognition of p53 and MDM2 by USP7/HAUSP. (PMID: 16474402) Sheng Y … Frappier L (Nature structural & molecular biology 2006) 3 4 23 56

Products for USP7 Gene

Sources for USP7 Gene