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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8237
Gene name	Ubiquitin specific peptidase 11
Gene symbol	USP11
Synonyms (NCBI Gene)	UHX1
Chromosome	X
Chromosome location	Xp11.3
Summary	Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and remov

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs777516785	G>A	Likely-pathogenic	Coding sequence variant, synonymous variant
rs780096892	G>A	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant

199

Show/Hide all (199)

miRTarBase ID	miRNA	Experiments	Reference
MIRT047695	hsa-miR-10a-5p	CLASH	23622248
MIRT1477415	hsa-miR-1207-5p	CLIP-seq
MIRT1477416	hsa-miR-1286	CLIP-seq
MIRT1477417	hsa-miR-1287	CLIP-seq
MIRT1477418	hsa-miR-1321	CLIP-seq
MIRT1477419	hsa-miR-1915	CLIP-seq
MIRT1477420	hsa-miR-2467-3p	CLIP-seq
MIRT1477421	hsa-miR-298	CLIP-seq
MIRT1477422	hsa-miR-3119	CLIP-seq
MIRT1477423	hsa-miR-3135b	CLIP-seq
MIRT1477424	hsa-miR-3150a-3p	CLIP-seq
MIRT1477425	hsa-miR-3154	CLIP-seq
MIRT1477426	hsa-miR-3158-3p	CLIP-seq
MIRT1477427	hsa-miR-3175	CLIP-seq
MIRT1477428	hsa-miR-3180	CLIP-seq
MIRT1477429	hsa-miR-3180-3p	CLIP-seq
MIRT1477430	hsa-miR-3196	CLIP-seq
MIRT1477431	hsa-miR-3202	CLIP-seq
MIRT1477432	hsa-miR-329	CLIP-seq
MIRT1477433	hsa-miR-362-3p	CLIP-seq
MIRT1477434	hsa-miR-3678-3p	CLIP-seq
MIRT1477435	hsa-miR-3688-5p	CLIP-seq
MIRT1477436	hsa-miR-3907	CLIP-seq
MIRT1477437	hsa-miR-3918	CLIP-seq
MIRT1477438	hsa-miR-3937	CLIP-seq
MIRT1477439	hsa-miR-3941	CLIP-seq
MIRT1477440	hsa-miR-4463	CLIP-seq
MIRT1477441	hsa-miR-4468	CLIP-seq
MIRT1477442	hsa-miR-4470	CLIP-seq
MIRT1477443	hsa-miR-4494	CLIP-seq
MIRT1477444	hsa-miR-4512	CLIP-seq
MIRT1477445	hsa-miR-4533	CLIP-seq
MIRT1477446	hsa-miR-4652-3p	CLIP-seq
MIRT1477447	hsa-miR-4685-5p	CLIP-seq
MIRT1477448	hsa-miR-4721	CLIP-seq
MIRT1477449	hsa-miR-4728-5p	CLIP-seq
MIRT1477450	hsa-miR-4736	CLIP-seq
MIRT1477451	hsa-miR-4739	CLIP-seq
MIRT1477452	hsa-miR-4756-5p	CLIP-seq
MIRT1477453	hsa-miR-4763-3p	CLIP-seq
MIRT1477454	hsa-miR-4768-3p	CLIP-seq
MIRT1477455	hsa-miR-4771	CLIP-seq
MIRT1477456	hsa-miR-4773	CLIP-seq
MIRT1477457	hsa-miR-4781-5p	CLIP-seq
MIRT1477458	hsa-miR-4789-5p	CLIP-seq
MIRT1477459	hsa-miR-548q	CLIP-seq
MIRT1477460	hsa-miR-548u	CLIP-seq
MIRT1477461	hsa-miR-603	CLIP-seq
MIRT1477462	hsa-miR-711	CLIP-seq
MIRT1477463	hsa-miR-744	CLIP-seq
MIRT1477464	hsa-miR-922	CLIP-seq
MIRT1477465	hsa-miR-939	CLIP-seq
MIRT2143773	hsa-miR-1285	CLIP-seq
MIRT2143774	hsa-miR-1587	CLIP-seq
MIRT2143775	hsa-miR-197	CLIP-seq
MIRT1477421	hsa-miR-298	CLIP-seq
MIRT2143776	hsa-miR-3150b-3p	CLIP-seq
MIRT2143777	hsa-miR-3187-5p	CLIP-seq
MIRT1477431	hsa-miR-3202	CLIP-seq
MIRT2143778	hsa-miR-326	CLIP-seq
MIRT2143779	hsa-miR-330-5p	CLIP-seq
MIRT2143780	hsa-miR-378g	CLIP-seq
MIRT1477437	hsa-miR-3918	CLIP-seq
MIRT2143781	hsa-miR-4486	CLIP-seq
MIRT2143782	hsa-miR-4492	CLIP-seq
MIRT2143783	hsa-miR-4498	CLIP-seq
MIRT1477444	hsa-miR-4512	CLIP-seq
MIRT2143784	hsa-miR-4656	CLIP-seq
MIRT2143785	hsa-miR-4675	CLIP-seq
MIRT2143786	hsa-miR-4689	CLIP-seq
MIRT2143787	hsa-miR-4741	CLIP-seq
MIRT2143788	hsa-miR-4747-5p	CLIP-seq
MIRT1477454	hsa-miR-4768-3p	CLIP-seq
MIRT1477456	hsa-miR-4773	CLIP-seq
MIRT2143789	hsa-miR-4784	CLIP-seq
MIRT2143790	hsa-miR-612	CLIP-seq
MIRT2143791	hsa-miR-762	CLIP-seq
MIRT2143773	hsa-miR-1285	CLIP-seq
MIRT1477417	hsa-miR-1287	CLIP-seq
MIRT1477418	hsa-miR-1321	CLIP-seq
MIRT2143774	hsa-miR-1587	CLIP-seq
MIRT2364050	hsa-miR-185	CLIP-seq
MIRT2364051	hsa-miR-1908	CLIP-seq
MIRT2364052	hsa-miR-2116	CLIP-seq
MIRT1477420	hsa-miR-2467-3p	CLIP-seq
MIRT1477421	hsa-miR-298	CLIP-seq
MIRT1477422	hsa-miR-3119	CLIP-seq
MIRT2364053	hsa-miR-3124-3p	CLIP-seq
MIRT1477423	hsa-miR-3135b	CLIP-seq
MIRT2143776	hsa-miR-3150b-3p	CLIP-seq
MIRT1477426	hsa-miR-3158-3p	CLIP-seq
MIRT2364054	hsa-miR-3178	CLIP-seq
MIRT1477428	hsa-miR-3180	CLIP-seq
MIRT1477429	hsa-miR-3180-3p	CLIP-seq
MIRT2143777	hsa-miR-3187-5p	CLIP-seq
MIRT1477430	hsa-miR-3196	CLIP-seq
MIRT1477431	hsa-miR-3202	CLIP-seq
MIRT2143778	hsa-miR-326	CLIP-seq
MIRT1477432	hsa-miR-329	CLIP-seq
MIRT2143779	hsa-miR-330-5p	CLIP-seq
MIRT1477433	hsa-miR-362-3p	CLIP-seq
MIRT1477434	hsa-miR-3678-3p	CLIP-seq
MIRT2143780	hsa-miR-378g	CLIP-seq
MIRT1477437	hsa-miR-3918	CLIP-seq
MIRT1477438	hsa-miR-3937	CLIP-seq
MIRT1477439	hsa-miR-3941	CLIP-seq
MIRT2364055	hsa-miR-4266	CLIP-seq
MIRT2364056	hsa-miR-4306	CLIP-seq
MIRT2143781	hsa-miR-4486	CLIP-seq
MIRT2143782	hsa-miR-4492	CLIP-seq
MIRT2143783	hsa-miR-4498	CLIP-seq
MIRT1477444	hsa-miR-4512	CLIP-seq
MIRT2364057	hsa-miR-4532	CLIP-seq
MIRT1477445	hsa-miR-4533	CLIP-seq
MIRT2364058	hsa-miR-4644	CLIP-seq
MIRT2143784	hsa-miR-4656	CLIP-seq
MIRT2143785	hsa-miR-4675	CLIP-seq
MIRT2364059	hsa-miR-4677-5p	CLIP-seq
MIRT2143786	hsa-miR-4689	CLIP-seq
MIRT2364060	hsa-miR-4695-5p	CLIP-seq
MIRT1477448	hsa-miR-4721	CLIP-seq
MIRT1477449	hsa-miR-4728-5p	CLIP-seq
MIRT1477451	hsa-miR-4739	CLIP-seq
MIRT2143787	hsa-miR-4741	CLIP-seq
MIRT2143788	hsa-miR-4747-5p	CLIP-seq
MIRT1477452	hsa-miR-4756-5p	CLIP-seq
MIRT1477454	hsa-miR-4768-3p	CLIP-seq
MIRT1477456	hsa-miR-4773	CLIP-seq
MIRT2364061	hsa-miR-4779	CLIP-seq
MIRT1477457	hsa-miR-4781-5p	CLIP-seq
MIRT2143789	hsa-miR-4784	CLIP-seq
MIRT1477458	hsa-miR-4789-5p	CLIP-seq
MIRT1477461	hsa-miR-603	CLIP-seq
MIRT2143790	hsa-miR-612	CLIP-seq
MIRT2364062	hsa-miR-663	CLIP-seq
MIRT1477463	hsa-miR-744	CLIP-seq
MIRT2143791	hsa-miR-762	CLIP-seq
MIRT2364063	hsa-miR-765	CLIP-seq
MIRT1477464	hsa-miR-922	CLIP-seq
MIRT1477421	hsa-miR-298	CLIP-seq
MIRT1477432	hsa-miR-329	CLIP-seq
MIRT1477433	hsa-miR-362-3p	CLIP-seq
MIRT1477437	hsa-miR-3918	CLIP-seq
MIRT1477439	hsa-miR-3941	CLIP-seq
MIRT1477444	hsa-miR-4512	CLIP-seq
MIRT1477454	hsa-miR-4768-3p	CLIP-seq
MIRT1477456	hsa-miR-4773	CLIP-seq
MIRT1477458	hsa-miR-4789-5p	CLIP-seq
MIRT1477461	hsa-miR-603	CLIP-seq
MIRT1477464	hsa-miR-922	CLIP-seq
MIRT2657812	hsa-miR-1254	CLIP-seq
MIRT2364050	hsa-miR-185	CLIP-seq
MIRT2364051	hsa-miR-1908	CLIP-seq
MIRT2364052	hsa-miR-2116	CLIP-seq
MIRT2657813	hsa-miR-3116	CLIP-seq
MIRT2364053	hsa-miR-3124-3p	CLIP-seq
MIRT2143776	hsa-miR-3150b-3p	CLIP-seq
MIRT2364054	hsa-miR-3178	CLIP-seq
MIRT1477428	hsa-miR-3180	CLIP-seq
MIRT1477429	hsa-miR-3180-3p	CLIP-seq
MIRT1477430	hsa-miR-3196	CLIP-seq
MIRT1477438	hsa-miR-3937	CLIP-seq
MIRT2364055	hsa-miR-4266	CLIP-seq
MIRT2364056	hsa-miR-4306	CLIP-seq
MIRT2364057	hsa-miR-4532	CLIP-seq
MIRT2364058	hsa-miR-4644	CLIP-seq
MIRT2364059	hsa-miR-4677-5p	CLIP-seq
MIRT2364060	hsa-miR-4695-5p	CLIP-seq
MIRT1477454	hsa-miR-4768-3p	CLIP-seq
MIRT1477456	hsa-miR-4773	CLIP-seq
MIRT2364061	hsa-miR-4779	CLIP-seq
MIRT1477457	hsa-miR-4781-5p	CLIP-seq
MIRT2143789	hsa-miR-4784	CLIP-seq
MIRT2657814	hsa-miR-596	CLIP-seq
MIRT2657815	hsa-miR-661	CLIP-seq
MIRT2364062	hsa-miR-663	CLIP-seq
MIRT1477463	hsa-miR-744	CLIP-seq
MIRT2364063	hsa-miR-765	CLIP-seq
MIRT2364050	hsa-miR-185	CLIP-seq
MIRT2364051	hsa-miR-1908	CLIP-seq
MIRT2364052	hsa-miR-2116	CLIP-seq
MIRT2364053	hsa-miR-3124-3p	CLIP-seq
MIRT2143776	hsa-miR-3150b-3p	CLIP-seq
MIRT2364054	hsa-miR-3178	CLIP-seq
MIRT1477438	hsa-miR-3937	CLIP-seq
MIRT2364055	hsa-miR-4266	CLIP-seq
MIRT2364056	hsa-miR-4306	CLIP-seq
MIRT2364057	hsa-miR-4532	CLIP-seq
MIRT2364058	hsa-miR-4644	CLIP-seq
MIRT2364059	hsa-miR-4677-5p	CLIP-seq
MIRT2364060	hsa-miR-4695-5p	CLIP-seq
MIRT1477454	hsa-miR-4768-3p	CLIP-seq
MIRT1477456	hsa-miR-4773	CLIP-seq
MIRT2364061	hsa-miR-4779	CLIP-seq
MIRT2143789	hsa-miR-4784	CLIP-seq
MIRT2657814	hsa-miR-596	CLIP-seq
MIRT2364062	hsa-miR-663	CLIP-seq
MIRT1477463	hsa-miR-744	CLIP-seq
MIRT2364063	hsa-miR-765	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001222	Function	Transcription corepressor binding	IPI	29628311
GO:0004197	Function	Cysteine-type endopeptidase activity	IDA	28992046
GO:0004197	Function	Cysteine-type endopeptidase activity	TAS	9827704
GO:0004843	Function	Cysteine-type deubiquitinase activity	IDA	15314155
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0004843	Function	Cysteine-type deubiquitinase activity	TAS	8845848
GO:0005515	Function	Protein binding	IPI	15314155, 18408009, 20601937, 20924359, 22190034, 29293652, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	28992046
GO:0005634	Component	Nucleus	IDA	15314155
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0016579	Process	Protein deubiquitination	IDA	15314155
GO:0016579	Process	Protein deubiquitination	IEA
GO:0016579	Process	Protein deubiquitination	TAS
GO:0016787	Function	Hydrolase activity	IEA

MIM	HGNC	e!Ensembl
300050	12609	ENSG00000102226

P51784

Protein name

Ubiquitin carboxyl-terminal hydrolase 11 (EC 3.4.19.12) (Deubiquitinating enzyme 11) (Ubiquitin thioesterase 11) (Ubiquitin-specific-processing protease 11)

Protein function

Protease that can remove conjugated ubiquitin from target proteins and polyubiquitin chains (PubMed:12084015, PubMed:15314155, PubMed:17897950, PubMed:19874889, PubMed:20233726, PubMed:24724799, PubMed:28992046). Inhibits the degradation of targ

PDB

4MEL , 5OK6 , 8OYP

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06337	DUSP	99 → 185	DUSP domain	Domain
PF14836	Ubiquitin_3	198 → 285	Ubiquitin-like domain	Domain
PF00443	UCH	309 → 927	Ubiquitin carboxyl-terminal hydrolase	Family
PF14533	USP7_C2	481 → 615	Ubiquitin-specific protease C-terminal	Family

Sequence

MAVAPRLFGGLCFRFRDQNPEVAVEGRLPISHSCVGCRRERTAMATVAANPAAAAAAVAA
AAAVTEDREPQHEELPGLDSQWRQIENGESGRERPLRAGESWFLVEKHWYKQWEAYVQGG
DQDSSTFPGCINNATLFQDEINWRLKEGLVEGEDYVLLPAAAWHYLVSWYGLEHGQPPIE
RKVIELPNIQKVEVYPVELLLVRHNDLGKSHTVQFSHTDSIGLVLRTARERFLVEPQEDT
RLWAKNSEGSLDRLYDTHITVLDAALETGQLIIMETRKKDGTWPSAQLHVMNNNMSEEDE
DFKGQPGICGLTNLGNTCFMNSALQCLSNVPQLTEYFLNNCYLEELNFRNPLGMKGEIAE
AYADLVKQAWSGHHRSIVPHVFKNKVGHFASQFLGYQQHDSQELLSFLLDGLHEDLNRVK
KKEYVELCDAAGRPDQEVAQEAWQNHKRRNDSVIVDTFHGLFKSTLVCPDCGNVSVTFDP
FCYLSVPLPISHKRVLEVFFIPMDPRRKPEQHRLVVPKKGKISDLCVALSKHTGISPERM
MVADVFSHRFYKLYQLEEPLSSILDRDDIFVYEVSGRIEAIEGSREDIVVPVYLRERTPA
RDYNNSYYGLMLFGHPLLVSVPRDRFTWEGLYNVLMYRLSRYVTKPNSDDEDDGDEKEDD
EEDKDDVPGPSTGGSLRDPEPEQAGPSSGVTNRCPFLLDNCLGTSQWPPRRRRKQLFTLQ
TVNSNGTSDRTTSPEEVHAQPYIAIDWEPEMKKRYYDEVEAEGYVKHDCVGYVMKKAPVR
LQECIELFTTVETLEKENPWYCPSCKQHQLATKKLDLWMLPEILIIHLKRFSYTKFSREK
LDTLVEFPIRDLDFSEFVIQPQNESNPELYKYDLIAVSNHYGGMRDGHYTTFACNKDSGQ
WHYFDDNSVSPVNENQIESKAAYVLFYQRQDVARRLLSPAGSSGAPASPACSSPPSSEFM
DVN

Sequence length

963

Interactions

View interactions

	Reactome
			Ub-specific processing proteases

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal brain morphology	Likely pathogenic	rs780096892	RCV000454353
Abnormal ciliary motility	Likely pathogenic	rs777516785	RCV000785881
Absent inner and outer dynein arms	Likely pathogenic	rs777516785	RCV000785881
Bronchiectasis	Likely pathogenic	rs777516785	RCV000785881
Dynein arm defect of respiratory motile cilia	Likely pathogenic	rs777516785	RCV000785881

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Melanoma	Uncertain significance	rs2055439072	RCV005909284
USP11-related disorder	Likely benign	rs367684076	RCV003951804

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Atherosclerosis	Associate	37287426
Brain Neoplasms	Associate	24487962
Breast Neoplasms	Associate	23337751, 28040451, 29724812
Calcinosis	Associate	35055037
Carcinogenesis	Associate	28040451, 34114341
Carcinoma Hepatocellular	Associate	34114341
Carcinoma Pancreatic Ductal	Associate	23696131
Colorectal Neoplasms	Associate	32364424, 33685455, 37414755
Death	Associate	23337751
Drug Hypersensitivity	Associate	23337751
Fatty Liver	Associate	34114341
Glioma	Associate	24487962
Heredodegenerative Disorders Nervous System	Associate	34526504
Influenza Human	Inhibit	20924359
Larva Migrans	Associate	26919101
Leukemia	Associate	36490346
Liver Diseases	Associate	34114341
Mammary Neoplasms Animal	Associate	28040451
Neoplasm Metastasis	Associate	29724812
Neoplasms	Associate	23337751, 24487962, 26919101, 28040451, 34526504
Non alcoholic Fatty Liver Disease	Stimulate	34114341
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	36490346

USP11 (ubiquitin specific peptidase 11)