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

Gene ID: 7874, updated on 19-Feb-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
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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
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 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 positive regulation of DNA demethylation IDA
Inferred from Direct Assay
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