USP7
Ubiquitin carboxyl-terminal hydrolase 7
Also known as: HAUSP, UBP7_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q93009
- Gene
- USP7
- Ensembl
- ENSG00000187555
- Chromosome
- 16
- Canonical length
- 1102 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nuclear bodies
- Quaternary structure
- Homodimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
1102 residues, UniProt reviewed canonical sequence.
>Q93009|USP7
1 MNHQQQQQQQ KAGEQQLSEP EDMEMEAGDT DDPPRITQNP VINGNVALSD GHNTAEEDME
61 DDTSWRSEAT FQFTVERFSR LSESVLSPPC FVRNLPWKIM VMPRFYPDRP HQKSVGFFLQ
121 CNAESDSTSW SCHAQAVLKI INYRDDEKSF SRRISHLFFH KENDWGFSNF MAWSEVTDPE
181 KGFIDDDKVT FEVFVQADAP HGVAWDSKKH TGYVGLKNQG ATCYMNSLLQ TLFFTNQLRK
241 AVYMMPTEGD DSSKSVPLAL QRVFYELQHS DKPVGTKKLT KSFGWETLDS FMQHDVQELC
301 RVLLDNVENK MKGTCVEGTI PKLFRGKMVS YIQCKEVDYR SDRREDYYDI QLSIKGKKNI
361 FESFVDYVAV EQLDGDNKYD AGEHGLQEAE KGVKFLTLPP VLHLQLMRFM YDPQTDQNIK
421 INDRFEFPEQ LPLDEFLQKT DPKDPANYIL HAVLVHSGDN HGGHYVVYLN PKGDGKWCKF
481 DDDVVSRCTK EEAIEHNYGG HDDDLSVRHC TNAYMLVYIR ESKLSEVLQA VTDHDIPQQL
541 VERLQEEKRI EAQKRKERQE AHLYMQVQIV AEDQFCGHQG NDMYDEEKVK YTVFKVLKNS
601 SLAEFVQSLS QTMGFPQDQI RLWPMQARSN GTKRPAMLDN EADGNKTMIE LSDNENPWTI
661 FLETVDPELA ASGATLPKFD KDHDVMLFLK MYDPKTRSLN YCGHIYTPIS CKIRDLLPVM
721 CDRAGFIQDT SLILYEEVKP NLTERIQDYD VSLDKALDEL MDGDIIVFQK DDPENDNSEL
781 PTAKEYFRDL YHRVDVIFCD KTIPNDPGFV VTLSNRMNYF QVAKTVAQRL NTDPMLLQFF
841 KSQGYRDGPG NPLRHNYEGT LRDLLQFFKP RQPKKLYYQQ LKMKITDFEN RRSFKCIWLN
901 SQFREEEITL YPDKHGCVRD LLEECKKAVE LGEKASGKLR LLEIVSYKII GVHQEDELLE
961 CLSPATSRTF RIEEIPLDQV DIDKENEMLV TVAHFHKEVF GTFGIPFLLR IHQGEHFREV
1021 MKRIQSLLDI QEKEFEKFKF AIVMMGRHQY INEDEYEVNL KDFEPQPGNM SHPRPWLGLD
1081 HFNKAPKRSR YTYLEKAIKI HNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against USP7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.3
- Highest tissue expression
- 55 nTPM
Expression across tissuesHPA
Tissue
- testis: 55 nTPM
- bone marrow: 51 nTPM
- thymus: 48 nTPM
- skeletal muscle: 42 nTPM
- tonsil: 42 nTPM
- tongue: 38 nTPM
Single-cell type
- early spermatids: 333 nCPM
- late primary spermatocytes: 178 nCPM
- neutrophils: 163 nCPM
- late spermatids: 143 nCPM
- monocyte progenitors: 138 nCPM
- neutrophil progenitors: 137 nCPM
Immune cell
- plasmacytoid DC: 6.5 nTPM
- non-classical monocyte: 6.1 nTPM
- MAIT T-cell: 5.7 nTPM
- memory CD8 T-cell: 5.3 nTPM
- basophil: 5.2 nTPM
- T-reg: 5.1 nTPM
Brain region
- cerebral cortex: 43 nTPM
- hippocampal formation: 43 nTPM
- midbrain: 43 nTPM
- white matter: 42 nTPM
- cerebellum: 41 nTPM
- basal ganglia: 40 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about USP7.
Disease | AllUniProt
Conditions USP7 is implicated in, by any mechanism.
- Hao-Fountain syndrome (HAFOUS) MIM:616863
Disease | GeneticClinVar
53 pathogenic / likely-pathogenic of 606 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hao-Fountain syndrome
- Hao-Fountain syndrome due to USP7 mutation
- Inborn genetic diseases
- USP7-related disorder
- Intellectual disability
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.06
- gnomAD pLI
- 1
- gnomAD missense Z
- 5.65
- DepMap mean gene effect
- -0.82
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- DNA alkylation repair
- monoubiquitinated protein deubiquitination
- negative regulation of gene expression via chromosomal CpG island methylation
- negative regulation of gluconeogenesis
- negative regulation of proteasomal ubiquitin-dependent protein catabolic process
- negative regulation of TORC1 signaling
- protein deubiquitination
- protein stabilization
- protein ubiquitination
- proteolysis
- regulation of circadian rhythm
- regulation of DNA-binding transcription factor activity
- regulation of establishment of protein localization to telomere
- regulation of protein stability
- regulation of retrograde transport, endosome to Golgi
- regulation of signal transduction by p53 class mediator
- rhythmic process
- symbiont-mediated disruption of host cell PML body
- transcription-coupled nucleotide-excision repair
- regulation of telomere capping
Molecular functions
- cysteine-type deubiquitinase activity
- cysteine-type endopeptidase activity
- deubiquitinase activity
- K48-linked deubiquitinase activity
- p53 binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Peptidase C19, ubiquitin carboxyl-terminal hydrolase
- MATH/TRAF domain
- TRAF-like
- Ubiquitin specific protease, conserved site
- Ubiquitin specific protease UPS, catalytic domain
- Ubiquitin carboxyl-terminal hydrolase, C-terminal
- Papain-like cysteine peptidase superfamily
- Ubiquitin carboxyl-terminal hydrolases
- Ubiquitin carboxyl-terminal hydrolase
- Ubiquitin-specific protease C-terminal
- MATH domain
- Ubiquitin carboxyl-terminal hydrolase 7, ICP0-binding domain
- ICP0-binding domain of Ubiquitin-specific protease 7
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of USP7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads USP7 as an antibody target. Whether an autoantibody or antibody against USP7 could matter depends on whether native USP7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
USP7 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label USP7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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