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

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: mouse all
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Genomic context

Location:: 16p13.2

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (8892097..8963906, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (8924836..8996578, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (8985954..9057763, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

USP7 deubiquitinates epigenetic reader ZMYND8 to promote breast cancer cell migration and invasion.
Title: USP7 deubiquitinates epigenetic reader ZMYND8 to promote breast cancer cell migration and invasion.
USP7 promotes IgA class switching through stabilizing RUNX3 for germline transcription activation.
Title: USP7 promotes IgA class switching through stabilizing RUNX3 for germline transcription activation.
Blocking Ubiquitin-Specific Protease 7 Induces Ferroptosis in Gastric Cancer via Targeting Stearoyl-CoA Desaturase.
Title: Blocking Ubiquitin-Specific Protease 7 Induces Ferroptosis in Gastric Cancer via Targeting Stearoyl-CoA Desaturase.
Biologically significant interaction of human herpesvirus 8 viral interferon regulatory factor 4 with ubiquitin-specific protease 7.
Title: Biologically significant interaction of human herpesvirus 8 viral interferon regulatory factor 4 with ubiquitin-specific protease 7.
Backbone [1]H, [13]C and [15]N resonance assignment of the ubiquitin specific protease 7 catalytic domain (residues 208-554) in complex with a small molecule ligand.
Title: Backbone (1)H, (13)C and (15)N resonance assignment of the ubiquitin specific protease 7 catalytic domain (residues 208-554) in complex with a small molecule ligand.
The deubiquitinase USP7 and E3 ligase TRIM21 regulate vasculogenic mimicry and malignant progression of RMS by balancing SNAI2 homeostasis.
Title: The deubiquitinase USP7 and E3 ligase TRIM21 regulate vasculogenic mimicry and malignant progression of RMS by balancing SNAI2 homeostasis.
USP7 interacts with and destabilizes oncoprotein SET.
Title: USP7 interacts with and destabilizes oncoprotein SET.
USP7 promotes cervical cancer progression by stabilizing MTDH expression through deubiquitination.
Title: USP7 promotes cervical cancer progression by stabilizing MTDH expression through deubiquitination.
Deubiquitinase USP7 stabilizes KDM5B and promotes tumor progression and cisplatin resistance in nasopharyngeal carcinoma through the ZBTB16/TOP2A axis.
Title: Deubiquitinase USP7 stabilizes KDM5B and promotes tumor progression and cisplatin resistance in nasopharyngeal carcinoma through the ZBTB16/TOP2A axis.
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.
Title: DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.

Submit: New GeneRIF Correction See all GeneRIFs (222)

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

Associated conditions

Description	Tests
Hao-Fountain syndrome due to USP7 mutation MedGen: C5816734 OMIM: 616863 GeneReviews: Not available	not available

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2024-04-22) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2024-04-22) ClinGen Genome Curation PagePubMed

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

RH65086 (e-PCR)
- UniSTS:795

SHGC-61120 (e-PCR)
- UniSTS:56376

D16S3010 (e-PCR)
- UniSTS:154169

RH65018 (e-PCR)
- UniSTS:86086

USP7_1808 (e-PCR)
- UniSTS:277858

RH64928 (e-PCR)
- UniSTS:88967

RH65057 (e-PCR)
- UniSTS:91057

RH65300 (e-PCR)
- UniSTS:48073

RH80190 (e-PCR)
- UniSTS:92623

SHGC-83906 (e-PCR)
- UniSTS:101872

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables K48-linked deubiquitinase activity	IDA Inferred from Direct Assay more info	PubMed
enables cysteine-type deubiquitinase activity	EXP Inferred from Experiment more info	PubMed
enables cysteine-type deubiquitinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type deubiquitinase activity	IDA Inferred from Direct Assay more info	PubMed
enables cysteine-type deubiquitinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables cysteine-type deubiquitinase activity	TAS Traceable Author Statement more info
enables cysteine-type endopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables deubiquitinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables p53 binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

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	IDA Inferred from Direct Assay more info	PubMed
involved_in protein deubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein deubiquitination	TAS Traceable Author Statement more info
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 establishment of protein localization to telomere	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 more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	HDA more info	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

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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

EC 3.4.19.12

NP_001273387.1

EC 3.4.19.12

NP_001308787.1

EC 3.4.19.12

NP_003461.2

EC 3.4.19.12

XP_047290561.1

EC 3.4.19.12

XP_054169857.1

EC 3.4.19.12

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

NG_046847.1 RefSeqGene

Range

4579..76388

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001286457.2 → NP_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:39 → 1084

COG5077; Ubiquitin carboxyl-terminal hydrolase [Posttranslational modification, protein turnover, chaperones]
NM_001286458.2 → NP_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:6 → 1001

COG5077; Ubiquitin carboxyl-terminal hydrolase [Posttranslational modification, protein turnover, chaperones]
NM_001321858.2 → NP_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:2 → 1042

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 ...
NM_003470.3 → NP_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:55 → 1100

COG5077; Ubiquitin carboxyl-terminal hydrolase [Posttranslational modification, protein turnover, chaperones]

cd02659
Location:212 → 523

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:67 → 202

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:620 → 865

USP7_ICP0_bdg; ICP0-binding domain of Ubiquitin-specific protease 7

pfam14533
Location:875 → 1086

USP7_C2; Ubiquitin-specific protease C-terminal

RNA

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