Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7874
Gene name	Ubiquitin specific peptidase 7
Gene symbol	USP7
Synonyms (NCBI Gene)	C16DELp13.2DEL16P13.2HAFOUSHAUSPTEF1
Chromosome	16
Chromosome location	16p13.2
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 re

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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

272

Show/Hide all (272)

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
MIRT036643	hsa-miR-935	CLASH	23622248
MIRT1480621	hsa-miR-1206	CLIP-seq
MIRT1480622	hsa-miR-1226	CLIP-seq
MIRT1480623	hsa-miR-1298	CLIP-seq
MIRT1480624	hsa-miR-3160-5p	CLIP-seq
MIRT1480625	hsa-miR-3163	CLIP-seq
MIRT1480626	hsa-miR-3180-5p	CLIP-seq
MIRT1480627	hsa-miR-338-3p	CLIP-seq
MIRT1480628	hsa-miR-340	CLIP-seq
MIRT1480629	hsa-miR-3591-3p	CLIP-seq
MIRT1480630	hsa-miR-3613-3p	CLIP-seq
MIRT1480631	hsa-miR-3655	CLIP-seq
MIRT1480632	hsa-miR-371b-5p	CLIP-seq
MIRT1480633	hsa-miR-3919	CLIP-seq
MIRT1480634	hsa-miR-3943	CLIP-seq
MIRT1480635	hsa-miR-4282	CLIP-seq
MIRT1480636	hsa-miR-4436b-3p	CLIP-seq
MIRT1480637	hsa-miR-4436b-5p	CLIP-seq
MIRT1480638	hsa-miR-4477a	CLIP-seq
MIRT1480639	hsa-miR-4530	CLIP-seq
MIRT1480640	hsa-miR-4642	CLIP-seq
MIRT1480641	hsa-miR-4666-5p	CLIP-seq
MIRT1480642	hsa-miR-4700-3p	CLIP-seq
MIRT1480643	hsa-miR-4724-5p	CLIP-seq
MIRT1480644	hsa-miR-4786-3p	CLIP-seq
MIRT1480645	hsa-miR-4797-5p	CLIP-seq
MIRT1480646	hsa-miR-545	CLIP-seq
MIRT1480647	hsa-miR-548an	CLIP-seq
MIRT1480648	hsa-miR-548p	CLIP-seq
MIRT1480649	hsa-miR-571	CLIP-seq
MIRT1480650	hsa-miR-578	CLIP-seq
MIRT1480651	hsa-miR-618	CLIP-seq
MIRT1480652	hsa-miR-634	CLIP-seq
MIRT1480653	hsa-miR-664	CLIP-seq
MIRT2144588	hsa-miR-1178	CLIP-seq
MIRT2144589	hsa-miR-1207-3p	CLIP-seq
MIRT2144590	hsa-miR-3135b	CLIP-seq
MIRT2144591	hsa-miR-3150b-3p	CLIP-seq
MIRT1480624	hsa-miR-3160-5p	CLIP-seq
MIRT2144592	hsa-miR-3166	CLIP-seq
MIRT2144593	hsa-miR-3179	CLIP-seq
MIRT1480626	hsa-miR-3180-5p	CLIP-seq
MIRT2144594	hsa-miR-3202	CLIP-seq
MIRT1480630	hsa-miR-3613-3p	CLIP-seq
MIRT2144595	hsa-miR-361-3p	CLIP-seq
MIRT1480631	hsa-miR-3655	CLIP-seq
MIRT1480632	hsa-miR-371b-5p	CLIP-seq
MIRT2144596	hsa-miR-374a	CLIP-seq
MIRT2144597	hsa-miR-374b	CLIP-seq
MIRT1480633	hsa-miR-3919	CLIP-seq
MIRT2144598	hsa-miR-4290	CLIP-seq
MIRT2144599	hsa-miR-4418	CLIP-seq
MIRT1480636	hsa-miR-4436b-3p	CLIP-seq
MIRT1480637	hsa-miR-4436b-5p	CLIP-seq
MIRT2144600	hsa-miR-4476	CLIP-seq
MIRT1480639	hsa-miR-4530	CLIP-seq
MIRT2144601	hsa-miR-4632	CLIP-seq
MIRT2144602	hsa-miR-4639-5p	CLIP-seq
MIRT1480640	hsa-miR-4642	CLIP-seq
MIRT1480643	hsa-miR-4724-5p	CLIP-seq
MIRT2144603	hsa-miR-4729	CLIP-seq
MIRT2144604	hsa-miR-4763-5p	CLIP-seq
MIRT2144605	hsa-miR-4771	CLIP-seq
MIRT2144606	hsa-miR-4784	CLIP-seq
MIRT1480644	hsa-miR-4786-3p	CLIP-seq
MIRT1480645	hsa-miR-4797-5p	CLIP-seq
MIRT2144607	hsa-miR-509-3-5p	CLIP-seq
MIRT2144608	hsa-miR-509-5p	CLIP-seq
MIRT1480650	hsa-miR-578	CLIP-seq
MIRT2144609	hsa-miR-579	CLIP-seq
MIRT2144610	hsa-miR-589	CLIP-seq
MIRT1480651	hsa-miR-618	CLIP-seq
MIRT2144611	hsa-miR-628-5p	CLIP-seq
MIRT2144612	hsa-miR-765	CLIP-seq
MIRT2144588	hsa-miR-1178	CLIP-seq
MIRT2144589	hsa-miR-1207-3p	CLIP-seq
MIRT1480622	hsa-miR-1226	CLIP-seq
MIRT2364965	hsa-miR-124	CLIP-seq
MIRT2364966	hsa-miR-1264	CLIP-seq
MIRT2364967	hsa-miR-1323	CLIP-seq
MIRT2144590	hsa-miR-3135b	CLIP-seq
MIRT2144591	hsa-miR-3150b-3p	CLIP-seq
MIRT2144592	hsa-miR-3166	CLIP-seq
MIRT2364968	hsa-miR-3173-3p	CLIP-seq
MIRT2364969	hsa-miR-3177-5p	CLIP-seq
MIRT1480626	hsa-miR-3180-5p	CLIP-seq
MIRT2364970	hsa-miR-329	CLIP-seq
MIRT1480627	hsa-miR-338-3p	CLIP-seq
MIRT2364971	hsa-miR-346	CLIP-seq
MIRT1480630	hsa-miR-3613-3p	CLIP-seq
MIRT2364972	hsa-miR-3614-5p	CLIP-seq
MIRT2364973	hsa-miR-3616-3p	CLIP-seq
MIRT2364974	hsa-miR-3622a-3p	CLIP-seq
MIRT2364975	hsa-miR-3622b-3p	CLIP-seq
MIRT2364976	hsa-miR-362-3p	CLIP-seq
MIRT2364977	hsa-miR-3678-3p	CLIP-seq
MIRT2364978	hsa-miR-3714	CLIP-seq
MIRT1480632	hsa-miR-371b-5p	CLIP-seq
MIRT2144596	hsa-miR-374a	CLIP-seq
MIRT2144597	hsa-miR-374b	CLIP-seq
MIRT1480633	hsa-miR-3919	CLIP-seq
MIRT2364979	hsa-miR-3941	CLIP-seq
MIRT2364980	hsa-miR-4276	CLIP-seq
MIRT1480635	hsa-miR-4282	CLIP-seq
MIRT2364981	hsa-miR-4305	CLIP-seq
MIRT2144599	hsa-miR-4418	CLIP-seq
MIRT1480636	hsa-miR-4436b-3p	CLIP-seq
MIRT2364982	hsa-miR-4480	CLIP-seq
MIRT2364983	hsa-miR-4514	CLIP-seq
MIRT1480639	hsa-miR-4530	CLIP-seq
MIRT2144601	hsa-miR-4632	CLIP-seq
MIRT2364984	hsa-miR-4637	CLIP-seq
MIRT2364985	hsa-miR-4645-3p	CLIP-seq
MIRT2364986	hsa-miR-4645-5p	CLIP-seq
MIRT2364987	hsa-miR-4673	CLIP-seq
MIRT2364988	hsa-miR-4692	CLIP-seq
MIRT1480642	hsa-miR-4700-3p	CLIP-seq
MIRT2364989	hsa-miR-4727-5p	CLIP-seq
MIRT2144604	hsa-miR-4763-5p	CLIP-seq
MIRT2364990	hsa-miR-4769-3p	CLIP-seq
MIRT2144605	hsa-miR-4771	CLIP-seq
MIRT2364991	hsa-miR-4779	CLIP-seq
MIRT2144606	hsa-miR-4784	CLIP-seq
MIRT1480644	hsa-miR-4786-3p	CLIP-seq
MIRT1480645	hsa-miR-4797-5p	CLIP-seq
MIRT2364992	hsa-miR-500a	CLIP-seq
MIRT2364993	hsa-miR-501-5p	CLIP-seq
MIRT2364994	hsa-miR-503	CLIP-seq
MIRT2364995	hsa-miR-506	CLIP-seq
MIRT2144607	hsa-miR-509-3-5p	CLIP-seq
MIRT2144608	hsa-miR-509-5p	CLIP-seq
MIRT2364996	hsa-miR-5096	CLIP-seq
MIRT2364997	hsa-miR-520d-5p	CLIP-seq
MIRT2364998	hsa-miR-524-5p	CLIP-seq
MIRT1480646	hsa-miR-545	CLIP-seq
MIRT1480647	hsa-miR-548an	CLIP-seq
MIRT2364999	hsa-miR-548o	CLIP-seq
MIRT1480648	hsa-miR-548p	CLIP-seq
MIRT1480649	hsa-miR-571	CLIP-seq
MIRT2144609	hsa-miR-579	CLIP-seq
MIRT2144610	hsa-miR-589	CLIP-seq
MIRT2365000	hsa-miR-603	CLIP-seq
MIRT2144611	hsa-miR-628-5p	CLIP-seq
MIRT1480652	hsa-miR-634	CLIP-seq
MIRT2144612	hsa-miR-765	CLIP-seq
MIRT2365001	hsa-miR-922	CLIP-seq
MIRT2144589	hsa-miR-1207-3p	CLIP-seq
MIRT2144590	hsa-miR-3135b	CLIP-seq
MIRT2144591	hsa-miR-3150b-3p	CLIP-seq
MIRT2364973	hsa-miR-3616-3p	CLIP-seq
MIRT2364983	hsa-miR-4514	CLIP-seq
MIRT2364988	hsa-miR-4692	CLIP-seq
MIRT2144606	hsa-miR-4784	CLIP-seq
MIRT2144610	hsa-miR-589	CLIP-seq
MIRT2144612	hsa-miR-765	CLIP-seq
MIRT2396766	hsa-miR-767-5p	CLIP-seq
MIRT2144588	hsa-miR-1178	CLIP-seq
MIRT2144589	hsa-miR-1207-3p	CLIP-seq
MIRT2658722	hsa-miR-1273g	CLIP-seq
MIRT2658723	hsa-miR-1976	CLIP-seq
MIRT2658724	hsa-miR-2052	CLIP-seq
MIRT2658725	hsa-miR-2117	CLIP-seq
MIRT2144590	hsa-miR-3135b	CLIP-seq
MIRT2658726	hsa-miR-3148	CLIP-seq
MIRT2144591	hsa-miR-3150b-3p	CLIP-seq
MIRT1480625	hsa-miR-3163	CLIP-seq
MIRT2144593	hsa-miR-3179	CLIP-seq
MIRT2144594	hsa-miR-3202	CLIP-seq
MIRT1480628	hsa-miR-340	CLIP-seq
MIRT1480630	hsa-miR-3613-3p	CLIP-seq
MIRT2144595	hsa-miR-361-3p	CLIP-seq
MIRT2658727	hsa-miR-3688-5p	CLIP-seq
MIRT2658728	hsa-miR-3690	CLIP-seq
MIRT1480632	hsa-miR-371b-5p	CLIP-seq
MIRT1480633	hsa-miR-3919	CLIP-seq
MIRT2658729	hsa-miR-3925-3p	CLIP-seq
MIRT1480634	hsa-miR-3943	CLIP-seq
MIRT2658730	hsa-miR-409-5p	CLIP-seq
MIRT2658731	hsa-miR-4254	CLIP-seq
MIRT2658732	hsa-miR-4277	CLIP-seq
MIRT2658733	hsa-miR-4312	CLIP-seq
MIRT2658734	hsa-miR-4318	CLIP-seq
MIRT2658735	hsa-miR-4325	CLIP-seq
MIRT2658736	hsa-miR-4423-5p	CLIP-seq
MIRT1480636	hsa-miR-4436b-3p	CLIP-seq
MIRT2658737	hsa-miR-4470	CLIP-seq
MIRT2144600	hsa-miR-4476	CLIP-seq
MIRT1480638	hsa-miR-4477a	CLIP-seq
MIRT2364983	hsa-miR-4514	CLIP-seq
MIRT1480640	hsa-miR-4642	CLIP-seq
MIRT2364985	hsa-miR-4645-3p	CLIP-seq
MIRT2364986	hsa-miR-4645-5p	CLIP-seq
MIRT1480641	hsa-miR-4666-5p	CLIP-seq
MIRT2658738	hsa-miR-4672	CLIP-seq
MIRT2364987	hsa-miR-4673	CLIP-seq
MIRT2364988	hsa-miR-4692	CLIP-seq
MIRT2658739	hsa-miR-4704-3p	CLIP-seq
MIRT1480643	hsa-miR-4724-5p	CLIP-seq
MIRT2658740	hsa-miR-4768-5p	CLIP-seq
MIRT2144606	hsa-miR-4784	CLIP-seq
MIRT1480644	hsa-miR-4786-3p	CLIP-seq
MIRT1480645	hsa-miR-4797-5p	CLIP-seq
MIRT2658741	hsa-miR-548ac	CLIP-seq
MIRT2658742	hsa-miR-548ae	CLIP-seq
MIRT2658743	hsa-miR-548aj	CLIP-seq
MIRT2658744	hsa-miR-548am	CLIP-seq
MIRT2658745	hsa-miR-548d-3p	CLIP-seq
MIRT2658746	hsa-miR-548x	CLIP-seq
MIRT2658747	hsa-miR-548z	CLIP-seq
MIRT2144609	hsa-miR-579	CLIP-seq
MIRT2144610	hsa-miR-589	CLIP-seq
MIRT1480651	hsa-miR-618	CLIP-seq
MIRT2658748	hsa-miR-642b	CLIP-seq
MIRT2144612	hsa-miR-765	CLIP-seq
MIRT2658749	hsa-miR-766	CLIP-seq
MIRT2658750	hsa-miR-875-3p	CLIP-seq
MIRT2144588	hsa-miR-1178	CLIP-seq
MIRT2144589	hsa-miR-1207-3p	CLIP-seq
MIRT2658722	hsa-miR-1273g	CLIP-seq
MIRT2658723	hsa-miR-1976	CLIP-seq
MIRT2658725	hsa-miR-2117	CLIP-seq
MIRT2144590	hsa-miR-3135b	CLIP-seq
MIRT2658726	hsa-miR-3148	CLIP-seq
MIRT2144591	hsa-miR-3150b-3p	CLIP-seq
MIRT1480625	hsa-miR-3163	CLIP-seq
MIRT2144593	hsa-miR-3179	CLIP-seq
MIRT2144594	hsa-miR-3202	CLIP-seq
MIRT1480628	hsa-miR-340	CLIP-seq
MIRT1480630	hsa-miR-3613-3p	CLIP-seq
MIRT2144595	hsa-miR-361-3p	CLIP-seq
MIRT2658728	hsa-miR-3690	CLIP-seq
MIRT1480632	hsa-miR-371b-5p	CLIP-seq
MIRT2658729	hsa-miR-3925-3p	CLIP-seq
MIRT1480634	hsa-miR-3943	CLIP-seq
MIRT2658730	hsa-miR-409-5p	CLIP-seq
MIRT2658731	hsa-miR-4254	CLIP-seq
MIRT2658732	hsa-miR-4277	CLIP-seq
MIRT2658733	hsa-miR-4312	CLIP-seq
MIRT2658734	hsa-miR-4318	CLIP-seq
MIRT2658735	hsa-miR-4325	CLIP-seq
MIRT2658736	hsa-miR-4423-5p	CLIP-seq
MIRT2144600	hsa-miR-4476	CLIP-seq
MIRT1480638	hsa-miR-4477a	CLIP-seq
MIRT2364983	hsa-miR-4514	CLIP-seq
MIRT1480640	hsa-miR-4642	CLIP-seq
MIRT2364985	hsa-miR-4645-3p	CLIP-seq
MIRT2364986	hsa-miR-4645-5p	CLIP-seq
MIRT2658738	hsa-miR-4672	CLIP-seq
MIRT2364987	hsa-miR-4673	CLIP-seq
MIRT2364988	hsa-miR-4692	CLIP-seq
MIRT2658739	hsa-miR-4704-3p	CLIP-seq
MIRT2658740	hsa-miR-4768-5p	CLIP-seq
MIRT2144606	hsa-miR-4784	CLIP-seq
MIRT2658741	hsa-miR-548ac	CLIP-seq
MIRT2658742	hsa-miR-548ae	CLIP-seq
MIRT2658743	hsa-miR-548aj	CLIP-seq
MIRT2658744	hsa-miR-548am	CLIP-seq
MIRT2658745	hsa-miR-548d-3p	CLIP-seq
MIRT2658746	hsa-miR-548x	CLIP-seq
MIRT2658747	hsa-miR-548z	CLIP-seq
MIRT2144609	hsa-miR-579	CLIP-seq
MIRT2144610	hsa-miR-589	CLIP-seq
MIRT1480651	hsa-miR-618	CLIP-seq
MIRT2658748	hsa-miR-642b	CLIP-seq
MIRT2144612	hsa-miR-765	CLIP-seq
MIRT2658749	hsa-miR-766	CLIP-seq
MIRT2658750	hsa-miR-875-3p	CLIP-seq

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Transcription factor	Regulation	Reference
ATF1	Unknown	7642633
NPM1	Unknown	23183427
SP1	Unknown	7642633
STAT3	Repression	22750444

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IDA	28890335
GO:0002039	Function	P53 binding	IDA	20096447
GO:0004197	Function	Cysteine-type endopeptidase activity	IMP	21745816
GO:0004197	Function	Cysteine-type endopeptidase activity	TAS	9827704
GO:0004843	Function	Cysteine-type deubiquitinase activity	EXP	26235645
GO:0004843	Function	Cysteine-type deubiquitinase activity	IBA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IDA	16964248, 21745816, 26280536, 28655758, 33544460, 35216969
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IMP	11923872, 26678539
GO:0004843	Function	Cysteine-type deubiquitinase activity	TAS	9130697
GO:0005515	Function	Protein binding	IPI	11279055, 11923872, 12093161, 15916963, 16402859, 16474402, 16713569, 16845383, 16964248, 17268548, 17936559, 18410486, 18566590, 18716620, 18729074, 20601937, 20697359, 21170034, 21258371, 21745816, 21988832, 22056774, 22466611, 22466612, 22653443, 22810586, 22863774, 23178491, 236
GO:0005634	Component	Nucleus	HDA	16791210
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11279055, 12093161, 16964248, 18410486, 20096447, 21258371, 26365382, 26678539
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9130697
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	11279055, 26365382
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IMP	22466612
GO:0006307	Process	DNA alkylation repair	IDA	25944111
GO:0006508	Process	Proteolysis	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0010507	Process	Negative regulation of autophagy	IDA	32561715
GO:0010508	Process	Positive regulation of autophagy	IDA	22017875, 22017876
GO:0016567	Process	Protein ubiquitination	TAS
GO:0016579	Process	Protein deubiquitination	IDA	16964248, 21258371, 21745816, 25172512
GO:0016579	Process	Protein deubiquitination	IEA
GO:0016579	Process	Protein deubiquitination	IMP	11923872, 18410486, 26678539, 27123980
GO:0016579	Process	Protein deubiquitination	TAS
GO:0016604	Component	Nuclear body	HDA	16791210
GO:0016605	Component	PML body	IDA	20719947
GO:0016605	Component	PML body	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031647	Process	Regulation of protein stability	IBA
GO:0031647	Process	Regulation of protein stability	IDA	27123980
GO:0031647	Process	Regulation of protein stability	IEA
GO:0031669	Process	Cellular response to nutrient levels	IDA	32561715
GO:0032435	Process	Negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	26678539
GO:0032991	Component	Protein-containing complex	IDA	26678539
GO:0035520	Process	Monoubiquitinated protein deubiquitination	IDA	26280536
GO:0038202	Process	TORC1 signaling	IDA	12087098
GO:0042752	Process	Regulation of circadian rhythm	IDA	27123980
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	IMP	21745816
GO:0045721	Process	Negative regulation of gluconeogenesis	IDA	28655758
GO:0048511	Process	Rhythmic process	IEA
GO:0050821	Process	Protein stabilization	IDA	21258371, 25172512, 35216969
GO:0050821	Process	Protein stabilization	IMP	18410486
GO:0051090	Process	Regulation of DNA-binding transcription factor activity	IDA	16964248
GO:0070203	Process	Regulation of establishment of protein localization to telomere	IDA	25172512
GO:0075342	Process	Symbiont-mediated disruption of host cell PML body	IDA	20719947
GO:0101005	Function	Deubiquitinase activity	IMP	18410486
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS
GO:1904262	Process	Negative regulation of TORC1 signaling	IDA	22017875, 22017876
GO:1904262	Process	Negative regulation of TORC1 signaling	IDA	35216969
GO:1904353	Process	Regulation of telomere capping	TAS	25172512
GO:1905279	Process	Regulation of retrograde transport, endosome to Golgi	IMP	26365382
GO:1990380	Function	K48-linked deubiquitinase activity	IDA	25944111

MIM	HGNC	e!Ensembl
602519	12630	ENSG00000187555

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
KGFIDDDKVTFEVFVQADAPHGVAWDSKKHTGYVGLKNQGATCYMNSLLQTLFFTNQLRK
AVYMMPTEGDDSSKSVPLALQRVFYELQHSDKPVGTKKLTKSFGWETLDSFMQHDVQELC
RVLLDNVENKMKGTCVEGTIPKLFRGKMVSYIQCKEVDYRSDRREDYYDIQLSIKGKKNI
FESFVDYVAVEQLDGDNKYDAGEHGLQEAEKGVKFLTLPPVLHLQLMRFMYDPQTDQNIK
INDRFEFPEQLPLDEFLQKTDPKDPANYILHAVLVHSGDNHGGHYVVYLNPKGDGKWCKF
DDDVVSRCTKEEAIEHNYGGHDDDLSVRHCTNAYMLVYIRESKLSEVLQAVTDHDIPQQL
VERLQEEKRIEAQKRKERQEAHLYMQVQIVAEDQFCGHQGNDMYDEEKVKYTVFKVLKNS
SLAEFVQSLSQTMGFPQDQIRLWPMQARSNGTKRPAMLDNEADGNKTMIELSDNENPWTI
FLETVDPELAASGATLPKFDKDHDVMLFLKMYDPKTRSLNYCGHIYTPISCKIRDLLPVM
CDRAGFIQDTSLILYEEVKPNLTERIQDYDVSLDKALDELMDGDIIVFQKDDPENDNSEL
PTAKEYFRDLYHRVDVIFCDKTIPNDPGFVVTLSNRMNYFQVAKTVAQRLNTDPMLLQFF
KSQGYRDGPGNPLRHNYEGTLRDLLQFFKPRQPKKLYYQQLKMKITDFENRRSFKCIWLN
SQFREEEITLYPDKHGCVRDLLEECKKAVELGEKASGKLRLLEIVSYKIIGVHQEDELLE
CLSPATSRTFRIEEIPLDQVDIDKENEMLVTVAHFHKEVFGTFGIPFLLRIHQGEHFREV
MKRIQSLLDIQEKEFEKFKFAIVMMGRHQYINEDEYEVNLKDFEPQPGNMSHPRPWLGLD
HFNKAPKRSRYTYLEKAIKIHN

Sequence length

1102

Interactions

View interactions

	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

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Gastric cancer	Pathogenic	rs2549212884	RCV005939468
Hao-Fountain syndrome	Likely pathogenic; Pathogenic	rs2141215483, rs2141186036, rs2141167019, rs2141200474, rs2141202964, rs2141190525, rs2549250330, rs2549240624, rs2549242516, rs2549244919, rs756550597, rs2549225175, rs2549230941, rs2549244890, rs2549232757 View all (10 more)	RCV003224889 RCV001788549 RCV002290715 RCV001728152 RCV001775225 RCV002052174 RCV002302846 RCV002302847 RCV002302848 RCV002471786 RCV000210289 RCV002810044 RCV003224904 RCV003224905 RCV003224908 RCV003224909 RCV003224910 RCV003224911 RCV003224912 RCV003315087 RCV003315088 RCV001175170 RCV001175169 RCV001175168 RCV001175171
Hao-Fountain syndrome due to USP7 mutation	Pathogenic; Likely pathogenic	rs2549212884, rs2549220874, rs2549229217, rs2061841667	RCV004555389 RCV004560482 RCV004595271 RCV004776301
Hypotonia	Likely pathogenic; Pathogenic	rs2141167019	RCV001526521
Intellectual disability	Likely pathogenic	rs2141185978	RCV001526598
Malignant tumor of urinary bladder	Likely pathogenic	rs2549246727	RCV005930948
Neoplasm	Likely pathogenic	rs2549246727	RCV005230477
Neurodevelopmental disorder	Pathogenic	rs1272068741	RCV001780066
USP7-related disorder	Likely pathogenic	rs2549242612, rs763721668, rs1555462347	RCV005429102 RCV003397847 RCV000625999

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Benign	rs138490551, rs373482138, rs201557390	RCV005927869 RCV005869939 RCV005870975
Sarcoma	Benign	rs138490551	RCV005927870
USP7-related neurodevelopmental disorder	Uncertain significance	rs2061656880, rs1898245285	RCV001095726 RCV001249770

Show/Hide Text Mining Associations (99)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Breast Neoplasms	Stimulate	27183383
Burkitt Lymphoma	Associate	30617194
Carcinogenesis	Associate	31527801, 32029476, 33207738, 36878903
Carcinoma Hepatocellular	Stimulate	29574466
Carcinoma Hepatocellular	Associate	35414777, 35732625, 37408047, 38279869
Carcinoma Merkel Cell	Associate	31801860, 35775490
Carcinoma Non Small Cell Lung	Associate	28406480, 38331088
Carcinoma Ovarian Epithelial	Associate	27302477
Carcinoma Renal Cell	Associate	33544460
Chromosome Aberrations	Associate	37373211
Cocaine Related Disorders	Associate	38123574
Colorectal Neoplasms	Associate	32029476
COVID 19	Associate	33971585
Cryptorchidism	Associate	34128869
Death	Associate	35732625
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	30679821
Developmental Disabilities	Associate	26365382, 30679821
Disease	Associate	26365382
Down Syndrome	Associate	23089923
Drug Related Side Effects and Adverse Reactions	Inhibit	37874827
Esophageal Neoplasms	Associate	24335168
Eye Abnormalities	Associate	30679821
Feeding and Eating Disorders	Associate	30679821
Fountain syndrome	Associate	35627274, 36273155, 38126281
Fractures Bone	Associate	36273155
Frontotemporal Dementia	Associate	28251352
Gastroesophageal Reflux	Associate	30679821
Genital Diseases	Associate	36273155
Glioblastoma	Associate	38254206
Hepatoblastoma	Associate	33780361
Hereditary Breast and Ovarian Cancer Syndrome	Associate	27183383
Herpes Simplex	Associate	15254178
Hypersensitivity Delayed	Associate	28251352
Hypogonadism	Associate	30679821
Hypoxia	Stimulate	27934968
Hypoxia	Associate	39488705
Hypoxia Brain	Associate	32176739, 37821935
Infections	Associate	14982996
Intellectual Disability	Associate	26365382, 30679821
Joint Diseases	Associate	38302916
Kidney Neoplasms	Associate	33544460
Language Development Disorders	Associate	30679821
Leukemia	Associate	36490346, 9428630
Leukemia Lymphocytic Chronic B Cell	Associate	28418900
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	33963175
Leukemia T Cell	Associate	24710217
Lung Neoplasms	Associate	33207738, 37946202
Lymphatic Metastasis	Associate	27302477
Lymphoma Primary Effusion	Associate	29343584, 31666375
Margins of Excision	Associate	29323787
Medulloblastoma	Associate	30227871
Melanoma	Associate	36130505
Mental Disorders	Associate	30679821
Mosaic variegated aneuploidy syndrome	Associate	25003721
Multi centric Castleman's Disease	Associate	29343584
Multiple Myeloma	Associate	31822558, 35414773
Multiple System Atrophy	Associate	35627274
Muscle Hypotonia	Associate	30679821
Myelodysplastic Syndromes	Associate	37373211
Myocardial Infarction	Associate	39488705
Nasopharyngeal Carcinoma	Associate	21305000
Nasopharyngeal Carcinoma	Inhibit	38129408
Neoplasm Metastasis	Associate	27934968, 36291159
Neoplasm Metastasis	Inhibit	38129408
Neoplasms	Associate	20855462, 22901115, 23348568, 24335168, 25003721, 25118285, 25349215, 25885523, 25944111, 27302477, 27800609, 27934968, 29236775, 29574466, 29616860 View all (16 more)
Neoplasms	Inhibit	33664368, 36952348, 9428630
Neoplasms	Stimulate	37762082
Nervous System Malformations	Associate	30679821
Neuroblastoma	Associate	37298148, 37762082
Ovarian Neoplasms	Associate	29049989
Pancreatic Neoplasms	Associate	34854226
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	30938820, 33664368
Prostatic Neoplasms	Associate	20855462, 26175158, 28415632
Prostatic Neoplasms	Stimulate	27302477
Prostatitis	Associate	33207738
Sarcoma Kaposi	Associate	29343584
Sarcoma Synovial	Associate	33361335
Schaaf Yang syndrome	Associate	34128869
Seizures	Associate	30679821
Small Cell Lung Carcinoma	Associate	25884169, 9428630
Squamous Cell Carcinoma of Head and Neck	Associate	35931679, 36878903
Stomach Neoplasms	Associate	30367141, 37449524
Triple Negative Breast Neoplasms	Associate	36291159
Urinary Bladder Neoplasms	Associate	30786932
Urogenital Neoplasms	Associate	25349215
Uterine Cervical Neoplasms	Stimulate	30179224
UV Sensitive Syndrome	Associate	29323787
Ventricular Remodeling	Associate	39488705
Wounds and Injuries	Associate	39488705

USP7 (ubiquitin specific peptidase 7)