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 removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated pr... See more...

Aliases for USP11 Gene

Aliases for USP11 Gene

  • Ubiquitin Specific Peptidase 11 2 3 5
  • UHX1 2 3 4
  • Ubiquitin Carboxyl-Terminal Hydrolase 11 3 4
  • Deubiquitinating Enzyme 11 3 4
  • Ubiquitin Thioesterase 11 3 4
  • Ubiquitin Carboxyl-Terminal Hydrolase, X-Linked 3
  • Ubiquitin-Specific Processing Protease 11 3
  • Ubiquitin-Specific-Processing Protease 11 4
  • Ubiquitin Specific Protease 11 2
  • Ubiquitin Thiolesterase 11 3
  • EC 3.4.19.12 4
  • EC 3.1.2.15 50
  • USP11 5

External Ids for USP11 Gene

Previous GeneCards Identifiers for USP11 Gene

  • GC0XP045895
  • GC0XP045352
  • GC0XP045918
  • GC0XP046138
  • GC0XP046848
  • GC0XP046977
  • GC0XP047093
  • GC0XP044802

Summaries for USP11 Gene

Entrez Gene Summary for USP11 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 removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. This gene encodes a deubiquitinating enzyme which lies in a gene cluster on chromosome Xp11.23 [provided by RefSeq, Jul 2008]

GeneCards Summary for USP11 Gene

USP11 (Ubiquitin Specific Peptidase 11) is a Protein Coding gene. Diseases associated with USP11 include Bronchiectasis and Bronchiectasis With Or Without Elevated Sweat Chloride 1. Among its related pathways are Chaperonin-mediated protein folding and Deubiquitination. Gene Ontology (GO) annotations related to this gene include cysteine-type endopeptidase activity and thiol-dependent ubiquitinyl hydrolase activity. An important paralog of this gene is USP4.

UniProtKB/Swiss-Prot Summary for USP11 Gene

  • Protease that can remove conjugated ubiquitin from target proteins and polyubiquitin chains (PubMed:12084015, PubMed:15314155, PubMed:17897950, PubMed:19874889, PubMed:20233726, PubMed:24724799). Inhibits the degradation of target proteins by the proteasome (PubMed:12084015). Cleaves preferentially 'Lys-6' and 'Lys-63'-linked ubiquitin chains. Has lower activity with 'Lys-11' and 'Lys-33'-linked ubiquitin chains, and extremely low activity with 'Lys-27', 'Lys-29' and 'Lys-48'-linked ubiquitin chains (in vitro) (PubMed:24724799). Plays a role in the regulation of pathways leading to NF-kappa-B activation (PubMed:17897950, PubMed:19874889). Plays a role in the regulation of DNA repair after double-stranded DNA breaks (PubMed:15314155, PubMed:20233726). Acts as a chromatin regulator via its association with the Polycomb group (PcG) multiprotein PRC1-like complex; may act by deubiquitinating components of the PRC1-like complex (PubMed:20601937).

Gene Wiki entry for USP11 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for USP11 Gene

Genomics for USP11 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for USP11 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ047231 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +1.2 1152 4.7 IKZF1 NCOR1 ZNF600 ZNF580 ZNF592 ATF2 POLR2A CEBPA BRCA1 ZBTB10 USP11 INE1 ZNF81 SNORA11C ENSG00000232009 UXT WASF4P UBA1 LINC01560 HSALNG0137690
GH0XJ047232 Promoter/Enhancer 0.8 Ensembl dbSUPER 250.7 -1.5 -1465 0.4 KLF9 SCRT1 ZXDB ZNF280D KLF8 ZSCAN5C USP11 HSALNG0137688 CDK16 RF00017-7776
GH0XJ047190 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 13.9 -38.7 -38650 8.8 BCLAF1 SP1 ZNF207 MYC ZNF654 ZNF600 SIX5 JUND ZNF580 ZMYM3 HSALNG0137682 UBA1 INE1 CDK16 USP11 ZNF182 ZNF81 VEZTP1 RNU6-1189P RF00017-7776
GH0XJ047523 Promoter/Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 12.2 +290.8 290794 0.9 BCLAF1 ZNF654 ZNF600 ZNF10 ZIC2 CTCF REST DEK BHLHE40 ZNF341 ZNF41 LINC01560 USP11 CDK16 ELK1 CFP SYN1 SPACA5 HSALNG0137718 lnc-SYN1-2
GH0XJ047199 Enhancer 0.8 Ensembl ENCODE 13.9 -31.8 -31838 2.1 RXRA RARA FOSL2 CTCF RAD21 RFX1 HNF4A ZKSCAN1 KLF1 FOS RNU6-1189P USP11 INE1 HSALNG0137682 UBA1 CDK16 RF00017-7776
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around USP11 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for USP11

Top Transcription factor binding sites by QIAGEN in the USP11 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • GATA-2
  • p53
  • POU2F1
  • PPAR-gamma2

Genomic Locations for USP11 Gene

Latest Assembly
chrX:47,232,866-47,248,328
(GRCh38/hg38)
Size:
15,463 bases
Orientation:
Plus strand

Previous Assembly
chrX:47,092,408-47,107,727
(GRCh37/hg19 by Entrez Gene)
Size:
15,320 bases
Orientation:
Plus strand

chrX:47,092,089-47,107,727
(GRCh37/hg19 by Ensembl)
Size:
15,639 bases
Orientation:
Plus strand

Genomic View for USP11 Gene

Genes around USP11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
USP11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for USP11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USP11 Gene

Proteins for USP11 Gene

  • Protein details for USP11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51784-UBP11_HUMAN
    Recommended name:
    Ubiquitin carboxyl-terminal hydrolase 11
    Protein Accession:
    P51784
    Secondary Accessions:
    • B2RTX1
    • Q8IUG6
    • Q9BWE1

    Protein attributes for USP11 Gene

    Size:
    963 amino acids
    Molecular mass:
    109817 Da
    Quaternary structure:
    • Monomer (PubMed:24724799). Associated component of the Polycomb group (PcG) multiprotein PRC1-like complex (PubMed:20601937). Interacts with RANBP9/RANBPM (PubMed:12084015). Interacts with BRCA2 (PubMed:15314155). Interacts with CHUK/IKKA (PubMed:17897950). Interacts with NFKBIA (PubMed:19874889). Interacts with SPRY3, RAE1, MYCBP2/PAM, and KCTD6 (PubMed:29293652).
    • (Microbial infection) Interacts with papilloma virus protein 16E7 (PubMed:18408009).
    SequenceCaution:
    • Sequence=AAC50450.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAC50450.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAC20463.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for USP11 Gene

neXtProt entry for USP11 Gene

Selected DME Specific Peptides for USP11 Gene

P51784:
  • AAYVLFY
  • RNDSVIVD
  • CIELFTT
  • FLLDGLH
  • RDDIFVYEV
  • GNTCFMN
  • PLLVSVP
  • NPLGMKGE
  • DGLHEDLN
  • NLGNTCF
  • LIIHLKR

Post-translational modifications for USP11 Gene

  • Ubiquitination at Lys107, Lys191, Lys245, Lys355, Lys367, Lys447, Lys493, Lys531, Lys714, Lys766, Lys835, Lys840, Lys896, and Lys920
  • Modification sites at PhosphoSitePlus

Other Protein References for USP11 Gene

Antibodies for research

  • Abcam antibodies for USP11
  • Santa Cruz Biotechnology (SCBT) Antibodies for USP11

Domains & Families for USP11 Gene

Gene Families for USP11 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for USP11 Gene

InterPro:
Blocks:
  • Ubiquitin thiolesterase, family 2
  • Ubiquitin-specific protease DUSP
  • Ubiquitin carboxyl-terminal hydrolase, N-terminal region 2

Suggested Antigen Peptide Sequences for USP11 Gene

GenScript: Design optimal peptide antigens:
  • Ubiquitin carboxyl-terminal hydrolase (B4DGK3_HUMAN)
  • Ubiquitin carboxyl-terminal hydrolase (Q6P453_HUMAN)
  • Ubiquitin-specific-processing protease 11 (UBP11_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51784

UniProtKB/Swiss-Prot:

UBP11_HUMAN :
  • Belongs to the peptidase C19 family.
Family:
  • Belongs to the peptidase C19 family.
genes like me logo Genes that share domains with USP11: view

Function for USP11 Gene

Molecular function for USP11 Gene

UniProtKB/Swiss-Prot 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). Inhibits the degradation of target proteins by the proteasome (PubMed:12084015). Cleaves preferentially 'Lys-6' and 'Lys-63'-linked ubiquitin chains. Has lower activity with 'Lys-11' and 'Lys-33'-linked ubiquitin chains, and extremely low activity with 'Lys-27', 'Lys-29' and 'Lys-48'-linked ubiquitin chains (in vitro) (PubMed:24724799). Plays a role in the regulation of pathways leading to NF-kappa-B activation (PubMed:17897950, PubMed:19874889). Plays a role in the regulation of DNA repair after double-stranded DNA breaks (PubMed:15314155, PubMed:20233726). Acts as a chromatin regulator via its association with the Polycomb group (PcG) multiprotein PRC1-like complex; may act by deubiquitinating components of the PRC1-like complex (PubMed:20601937).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).; EC=3.4.19.12; Evidence={ECO:0000269|PubMed:12084015, ECO:0000269|PubMed:24724799};.
GENATLAS Biochemistry:
ubiquitin specific protease 11,highly expressed in the retina,deubiquitin enzyme family

Enzyme Numbers (IUBMB) for USP11 Gene

Gene Ontology (GO) - Molecular Function for USP11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001226 RNA polymerase II transcription corepressor binding IPI 29628311
GO:0004197 cysteine-type endopeptidase activity TAS 9827704
GO:0004843 thiol-dependent ubiquitin-specific protease activity TAS,IDA 15314155
GO:0005515 protein binding IPI 15314155
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with USP11: view
genes like me logo Genes that share phenotypes with USP11: view

Animal Models for USP11 Gene

MGI Knock Outs for USP11:

Animal Models for research

  • Taconic Biosciences Mouse Models for USP11

miRNA for USP11 Gene

miRTarBase miRNAs that target USP11

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USP11

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for USP11 Gene

Localization for USP11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for USP11 Gene

Nucleus. Cytoplasm. Chromosome. Note=Predominantly nuclear (PubMed:12084015, PubMed:15314155). Associates with chromatin (PubMed:20601937, PubMed:20233726). {ECO:0000269 PubMed:12084015, ECO:0000269 PubMed:15314155, ECO:0000269 PubMed:20233726, ECO:0000269 PubMed:20601937}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for USP11 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for USP11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 15314155
GO:0005654 nucleoplasm IDA --
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with USP11: view

Pathways & Interactions for USP11 Gene

genes like me logo Genes that share pathways with USP11: view

Pathways by source for USP11 Gene

Gene Ontology (GO) - Biological Process for USP11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0016032 viral process IEA --
GO:0016579 protein deubiquitination TAS --
GO:0018215 protein phosphopantetheinylation IEA --
genes like me logo Genes that share ontologies with USP11: view

No data available for SIGNOR curated interactions for USP11 Gene

Drugs & Compounds for USP11 Gene

(1) Drugs for USP11 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
genes like me logo Genes that share compounds with USP11: view

Transcripts for USP11 Gene

mRNA/cDNA for USP11 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USP11

Alternative Splicing Database (ASD) splice patterns (SP) for USP11 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ·
SP1: - - -
SP2: - -
SP3: - -
SP4: - -
SP5: - - -
SP6: - -
SP7:
SP8: -
SP9: - - - - - - - - - - -
SP10:
SP11:

ExUns: 14c ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for USP11 Gene

GeneLoc Exon Structure for
USP11

Expression for USP11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for USP11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for USP11 Gene

This gene is overexpressed in Retina (14.8) and Cervix (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for USP11 Gene



Protein tissue co-expression partners for USP11 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for USP11

SOURCE GeneReport for Unigene cluster for USP11 Gene:

Hs.171501

Evidence on tissue expression from TISSUES for USP11 Gene

  • Nervous system(5)
  • Eye(4.6)
  • Liver(4.5)
  • Muscle(4.5)
  • Lung(4.3)
  • Kidney(3.7)
  • Pancreas(3.6)
  • Intestine(3.3)
  • Skin(3.3)
  • Spleen(2.8)
  • Blood(2)
genes like me logo Genes that share expression patterns with USP11: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for USP11 Gene

Orthologs for USP11 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for USP11 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia USP11 29 30
  • 86.13 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia USP11 29 30
  • 85.33 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Usp11 29
  • 83.93 (n)
Mouse
(Mus musculus)
Mammalia Usp11 29 16 30
  • 83.86 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia USP11 30
  • 70 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia USP11 30
  • 69 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia USP11 30
  • 64 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii usp11 29 30
  • 63.3 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG30421 31
  • 37 (a)
Worm
(Caenorhabditis elegans)
Secernentea F07A11.4 31
  • 33 (a)
H34C03.2 30 31
  • 29 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBP12 30
  • 20 (a)
OneToMany
Soybean
(Glycine max)
eudicotyledons Gma.15565 29
Rice
(Oryza sativa)
Liliopsida Os.45946 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2770 30
  • 37 (a)
OneToMany
Species where no ortholog for USP11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for USP11 Gene

ENSEMBL:
Gene Tree for USP11 (if available)
TreeFam:
Gene Tree for USP11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for USP11: view image
Alliance of Genome Resources:
Additional Orthologs for USP11

Paralogs for USP11 Gene

(12) SIMAP similar genes for USP11 Gene using alignment to 6 proteins:

  • UBP11_HUMAN
  • B4DGK3_HUMAN
  • C9JBP8_HUMAN
  • G5E9A6_HUMAN
  • Q5JXD3_HUMAN
  • Q6P453_HUMAN
genes like me logo Genes that share paralogs with USP11: view

Variants for USP11 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for USP11 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
713257 Benign: not provided 47,244,777(+) G/A
NM_001371072.1(USP11):c.1939G>A (p.Val647Ile)
MISSENSE
716704 Benign: not provided 47,242,288(+) G/A
NM_001371072.1(USP11):c.1386G>A (p.Pro462=)
SYNONYMOUS
721134 Benign: not provided 47,247,672(+) C/A
NM_001371072.1(USP11):c.2598C>A (p.Val866=)
SYNONYMOUS
724805 Benign: not provided 47,239,825(+) G/A
NM_001371072.1(USP11):c.453G>A (p.Val151=)
SYNONYMOUS
726706 Benign: not provided 47,247,364(+) C/T
NM_001371072.1(USP11):c.2481C>T (p.Tyr827=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for USP11 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for USP11 Gene

Variant ID Type Subtype PubMed ID
esv1746874 CNV deletion 17803354
esv2740137 CNV deletion 23290073
esv2740138 CNV deletion 23290073
esv3239173 CNV deletion 24192839
esv3558852 CNV deletion 23714750
esv988260 CNV deletion 20482838
nsv1139400 CNV deletion 24896259

Variation tolerance for USP11 Gene

Residual Variation Intolerance Score: 2.81% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.87; 18.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for USP11 Gene

Human Gene Mutation Database (HGMD)
USP11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
USP11
Leiden Open Variation Database (LOVD)
USP11

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for USP11 Gene

Disorders for USP11 Gene

MalaCards: The human disease database

(3) MalaCards diseases for USP11 Gene - From: CVR, COP, and GCD

Disorder Aliases PubMed IDs
bronchiectasis
  • polynesian bronchiectasis
bronchiectasis with or without elevated sweat chloride 1
  • besc1
primary ciliary dyskinesia
  • ciliary motility disorder
- elite association - COSMIC cancer census association via MalaCards
Search USP11 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for USP11

genes like me logo Genes that share disorders with USP11: view

No data available for UniProtKB/Swiss-Prot and Genatlas for USP11 Gene

Publications for USP11 Gene

  1. USP11 negatively regulates TNFalpha-induced NF-kappaB activation by targeting on IkappaBalpha. (PMID: 19874889) Sun W … Yang J (Cellular signalling 2010) 3 4 22
  2. Structural and functional characterization of the USP11 deubiquitinating enzyme, which interacts with the RanGTP-associated protein RanBPM. (PMID: 12084015) Ideguchi H … Ishigatsubo Y (The Biochemical journal 2002) 3 4 22
  3. USP11 deubiquitinates RAE1 and plays a key role in bipolar spindle formation. (PMID: 29293652) Stockum A … Maertens GN (PloS one 2018) 3 4
  4. Structure and catalytic regulatory function of ubiquitin specific protease 11 N-terminal and ubiquitin-like domains. (PMID: 24724799) Harper S … Dreveny I (Biochemistry 2014) 3 4
  5. Ubiquitin-specific proteases 7 and 11 modulate Polycomb regulation of the INK4a tumour suppressor. (PMID: 20601937) Maertens GN … Peters G (The EMBO journal 2010) 3 4

Products for USP11 Gene

Sources for USP11 Gene