Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7874
Gene name Gene Name - the full gene name approved by the HGNC.
Ubiquitin specific peptidase 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
USP7
Synonyms (NCBI Gene) Gene synonyms aliases
C16DELp13.2, DEL16P13.2, HAFOUS, HAUSP, TEF1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HAFOUS
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.2
Summary Summary of gene provided in NCBI Entrez 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 re
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs781247345 G>A,T Pathogenic Coding sequence variant, non coding transcript variant, stop gained, synonymous variant
rs1555462347 CT>- Likely-pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT030771 hsa-miR-21-5p Microarray 18591254
MIRT031560 hsa-miR-16-5p Proteomics 18668040
MIRT050139 hsa-miR-26a-5p CLASH 23622248
MIRT040289 hsa-miR-615-3p CLASH 23622248
MIRT036837 hsa-miR-877-3p CLASH 23622248
Transcription factors
Transcription factor Regulation Reference
ATF1 Unknown 7642633
NPM1 Unknown 23183427
SP1 Unknown 7642633
STAT3 Repression 22750444
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002039 Function P53 binding IDA 20096447
GO:0004197 Function Cysteine-type endopeptidase activity IBA 21873635
GO:0004197 Function Cysteine-type endopeptidase activity IMP 21745816
GO:0004843 Function Thiol-dependent ubiquitin-specific protease activity IBA 21873635
GO:0004843 Function Thiol-dependent ubiquitin-specific protease activity IDA 16964248, 21745816, 26280536, 28655758
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602519 12630 ENSG00000187555
Protein
UniProt ID Q93009
Protein name Ubiquitin carboxyl-terminal hydrolase 7 (EC 3.4.19.12) (Deubiquitinating enzyme 7) (Herpesvirus-associated ubiquitin-specific protease) (Ubiquitin thioesterase 7) (Ubiquitin-specific-processing protease 7)
Protein function Hydrolase that deubiquitinates target proteins such as ARMC5, FOXO4, DEPTOR, KAT5, p53/TP53, MDM2, ERCC6, DNMT1, UHRF1, PTEN, KMT2E/MLL5 and DAXX (PubMed:11923872, PubMed:15053880, PubMed:16964248, PubMed:18716620, PubMed:25283148, PubMed:258657
PDB 1NB8 , 1NBF , 1YY6 , 1YZE , 2F1W , 2F1X , 2F1Y , 2F1Z , 2FOJ , 2FOO , 2FOP , 2KVR , 2XXN , 2YLM , 3MQR , 3MQS , 4JJQ , 4KG9 , 4M5W , 4M5X , 4PYZ , 4WPH , 4WPI , 4YOC , 4YSI , 4Z96 , 4Z97 , 5C56 , 5C6D , 5FWI , 5GG4 , 5J7T , 5JTJ , 5JTV , 5KYB , 5KYC , 5KYD , 5KYE , 5KYF , 5N9R , 5N9T , 5NGE , 5NGF , 5UQV , 5UQX , 5VS6 , 5VSB , 5VSK , 5WHC , 6F5H , 6M1K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00917 MATH 74 196 MATH domain Domain
PF00443 UCH 214 518 Ubiquitin carboxyl-terminal hydrolase Family
PF12436 USP7_ICP0_bdg 620 865 ICP0-binding domain of Ubiquitin-specific protease 7 Family
PF14533 USP7_C2 875 1086 Ubiquitin-specific protease C-terminal Family
Tissue specificity TISSUE SPECIFICITY: Expressed in neural progenitor cells (at protein level) (PubMed:21258371). Widely expressed. Overexpressed in prostate cancer. {ECO:0000269|PubMed:18716620, ECO:0000269|PubMed:21258371}.
Sequence
MNHQQQQQQQKAGEQQLSEPEDMEMEAGDTDDPPRITQNPVINGNVALSDGHNTAEEDME
DDTSWRSEATFQFTVERFSRLSESVLSPPCFVRNLPWKIMVMPRFYPDRPHQKSVGFFLQ
CNAESDSTSWSCHAQAVLKIINYRDDEKSFSRRISHLFFHKENDWGFSNFMAWSEVTDPE
KGFIDDDKVTFEVFVQ
ADAPHGVAWDSKKHTGYVGLKNQGATCYMNSLLQTLFFTNQLRK
AVYMMPTEGDDSSKSVPLALQRVFYELQHSDKPVGTKKLTKSFGWETLDSFMQHDVQELC
RVLLDNVENKMKGTCVEGTIPKLFRGKMVSYIQCKEVDYRSDRREDYYDIQLSIKGKKNI
FESFVDYVAVEQLDGDNKYDAGEHGLQEAEKGVKFLTLPPVLHLQLMRFMYDPQTDQNIK
INDRFEFPEQLPLDEFLQKTDPKDPANYILHAVLVHSGDNHGGHYVVYLNPKGDGKWCKF
DDDVVSRCTKEEAIEHNYGGHDDDLSVRHCTNAYMLVY
IRESKLSEVLQAVTDHDIPQQL
VERLQEEKRIEAQKRKERQEAHLYMQVQIVAEDQFCGHQGNDMYDEEKVKYTVFKVLKNS
SLAEFVQSLSQTMGFPQDQIRLWPMQARSNGTKRPAMLDNEADGNKTMIELSDNENPWTI
FLETVDPELAASGATLPKFDKDHDVMLFLKMYDPKTRSLNYCGHIYTPISCKIRDLLPVM
CDRAGFIQDTSLILYEEVKPNLTERIQDYDVSLDKALDELMDGDIIVFQKDDPENDNSEL
PTAKEYFRDLYHRVDVIFCDKTIPNDPGFVVTLSNRMNYFQVAKTVAQRLNTDPMLLQFF
KSQGYRDGPGNPLRHNYEGTLRDLL
QFFKPRQPKKLYYQQLKMKITDFENRRSFKCIWLN
SQFREEEITLYPDKHGCVRDLLEECKKAVELGEKASGKLRLLEIVSYKIIGVHQEDELLE
CLSPATSRTFRIEEIPLDQVDIDKENEMLVTVAHFHKEVFGTFGIPFLLRIHQGEHFREV
MKRIQSLLDIQEKEFEKFKFAIVMMGRHQYINEDEYEVNLKDFEPQPGNMSHPRPWLGLD
HFNKAP
KRSRYTYLEKAIKIHN
Sequence length 1102
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Polycomb repressive complex
FoxO signaling pathway
Epstein-Barr virus infection
Viral carcinogenesis
  Ub-specific processing proteases
Formation of TC-NER Pre-Incision Complex
Transcription-Coupled Nucleotide Excision Repair (TC-NER)
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
Regulation of TP53 Degradation
Synthesis of active ubiquitin: roles of E1 and E2 enzymes
Regulation of PTEN localization
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Gross motor development delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Dysautonomia Autonomic bladder dysfunction rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086
View all (27 more)
Mental retardation Mild Mental Retardation rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Prostate cancer Malignant neoplasm of prostate rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 29610475
Unknown
Disease term Disease name Evidence References Source
Insomnia Insomnia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Abortion Spontaneous Associate 34618298
Acute Coronary Syndrome Associate 39488705
Adenocarcinoma Associate 26678539
Adenocarcinoma of Lung Associate 35948545
Alternating hemiplegia of childhood Associate 31278054
Aneuploidy Associate 23089923
Autism Spectrum Disorder Associate 26365382, 30679821
Autistic Disorder Associate 34128869
Birt Hogg Dube Syndrome Associate 33137092
Breast Neoplasms Associate 23508821, 28325877, 31833203