Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8237
Gene name Gene Name - the full gene name approved by the HGNC.
Ubiquitin specific peptidase 11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
USP11
Synonyms (NCBI Gene) Gene synonyms aliases
UHX1
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp11.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001226 Function RNA polymerase II transcription corepressor binding IPI 29628311
GO:0004197 Function Cysteine-type endopeptidase activity TAS 9827704
GO:0004843 Function Thiol-dependent ubiquitin-specific protease activity IDA 15314155
GO:0005515 Function Protein binding IPI 15314155, 18408009, 20601937, 20924359, 22190034, 26649820, 29293652, 32296183
GO:0005634 Component Nucleus IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300050 12609 ENSG00000102226
Protein
UniProt ID 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
RKVIE
LPNIQKVEVYPVELLLVRHNDLGKSHTVQFSHTDSIGLVLRTARERFLVEPQEDT
RLWAKNSEGSLDRLYDTHITVLDAALETGQLIIMETRKKDGTWPS
AQLHVMNNNMSEEDE
DFKGQPGICGLTNLGNTCFMNSALQCLSNVPQLTEYFLNNCYLEELNFRNPLGMKGEIAE
AYADLVKQAWSGHHRSIVPHVFKNKVGHFASQFLGYQQHDSQELLSFLLDGLHEDLNRVK
KKEYVELCDAAGRPDQEVAQEAWQNHKRRNDSVIVDTFHGLFKSTLVCPDCGNVSVTFDP
FCYLSVPLPISHKRVLEVFFIPMDPRRKPEQHRLVVPKKGKISDLCVALSKHTGISPERM
MVADVFSHRFYKLYQLEEPLSSILDRDDIFVYEVSGRIEAIEGSREDIVVPVYLRERTPA
RDYNNSYYGLMLFGH
PLLVSVPRDRFTWEGLYNVLMYRLSRYVTKPNSDDEDDGDEKEDD
EEDKDDVPGPSTGGSLRDPEPEQAGPSSGVTNRCPFLLDNCLGTSQWPPRRRRKQLFTLQ
TVNSNGTSDRTTSPEEVHAQPYIAIDWEPEMKKRYYDEVEAEGYVKHDCVGYVMKKAPVR
LQECIELFTTVETLEKENPWYCPSCKQHQLATKKLDLWMLPEILIIHLKRFSYTKFSREK
LDTLVEFPIRDLDFSEFVIQPQNESNPELYKYDLIAVSNHYGGMRDGHYTTFACNKDSGQ
WHYFDDNSVSPVNENQIESKAAYVLFY
QRQDVARRLLSPAGSSGAPASPACSSPPSSEFM
DVN
Sequence length 963
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Ub-specific processing proteases
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Bronchiectasis Bronchiectasis rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016
View all (214 more)
Situs inversus Situs inversus totalis rs528302390, rs1596264554
Associations from Text Mining
Disease Name Relationship Type References
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