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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]
USP7 (Ubiquitin Specific Peptidase 7) is a Protein Coding gene. Diseases associated with USP7 include Hao-Fountain Syndrome and Uv-Sensitive Syndrome. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Metabolism of proteins. 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.
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.
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 | IEA,IPI | 11279055 |
GO:0008022 | protein C-terminus binding | IPI | 12093161 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | TAS,IDA | 11279055 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005694 | chromosome | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) | ||
2 | Deubiquitination |
.74
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|
3 | Gene Expression |
.48
|
|
4 | Metabolism of proteins | ||
5 | Protein ubiquitination |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006111 | regulation of gluconeogenesis | IDA | 28655758 |
GO:0006281 | DNA repair | IEA | -- |
GO:0006283 | transcription-coupled nucleotide-excision repair | IMP,TAS | -- |
GO:0006508 | proteolysis | IEA | -- |
GO:0006511 | ubiquitin-dependent protein catabolic process | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
NSC 624206 |
|
13116-77-3 |
|
|
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 |
Compound | Action | Cas Number |
---|---|---|
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 |
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: | - | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | USP7 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | USP7 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Usp7 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | USP7 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Usp7 30 |
|
||
Dog (Canis familiaris) |
Mammalia | USP7 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | USP7 30 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | USP7 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | USP7 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | usp7 30 |
|
||
Str.80 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.29048 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | usp7 30 31 |
|
OneToOne | |
Dr.17905 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Usp7 30 31 |
|
OneToOne | |
Ubp64E 32 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008530 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | math-33 30 31 |
|
OneToOne | |
H19N07.2a 32 |
|
|
|||
H19N07.2b 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | UBP15 30 31 33 |
|
OneToMany | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AGL357W 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | UBP13 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os12g0489100 30 |
|
||
Os.2185 30 |
|
||||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | ubp15 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU03797 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4025 30 |
|
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708192 | Benign: not provided | 8,900,522(-) | G/A | INTRON_VARIANT | |
718043 | Benign: not provided | 8,923,417(-) | C/CA | INTRON_VARIANT | |
726816 | Benign: not provided | 8,906,447(-) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
727818 | Likely Benign: not provided | 8,917,133(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
736796 | Benign: not provided | 8,900,634(-) | C/T | INTRON_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hao-fountain syndrome |
|
|
uv-sensitive syndrome |
|
|
schaaf-yang syndrome |
|
|
cockayne syndrome |
|
|
chronic cystitis |
|
|