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USP53 (ubiquitin specific peptidase 53)

Identity

Alias_namesubiquitin specific protease 53
Alias_symbol (synonym)KIAA1350
Other alias-
HGNC (Hugo) USP53
LocusID (NCBI) 54532
Atlas_Id 75569
Location 4q26  [Link to chromosome band 4q26]
Location_base_pair Starts at 119212627 and ends at 119295518 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
USP53 (4q26) / MYOZ2 (4q26)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)USP53   29255
Cards
Entrez_Gene (NCBI)USP53  54532  ubiquitin specific peptidase 53
Aliases
GeneCards (Weizmann)USP53
Ensembl hg19 (Hinxton)ENSG00000145390 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000145390 [Gene_View]  chr4:119212627-119295518 [Contig_View]  USP53 [Vega]
ICGC DataPortalENSG00000145390
TCGA cBioPortalUSP53
AceView (NCBI)USP53
Genatlas (Paris)USP53
WikiGenes54532
SOURCE (Princeton)USP53
Genetics Home Reference (NIH)USP53
Genomic and cartography
GoldenPath hg38 (UCSC)USP53  -     chr4:119212627-119295518 +  4q26   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)USP53  -     4q26   [Description]    (hg19-Feb_2009)
EnsemblUSP53 - 4q26 [CytoView hg19]  USP53 - 4q26 [CytoView hg38]
Mapping of homologs : NCBIUSP53 [Mapview hg19]  USP53 [Mapview hg38]
OMIM617431   
Gene and transcription
Genbank (Entrez)AB037771 AF085848 AJ583824 AK022799 AK025233
RefSeq transcript (Entrez)NM_019050
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)USP53
Cluster EST : UnigeneHs.595368 [ NCBI ]
CGAP (NCI)Hs.595368
Alternative Splicing GalleryENSG00000145390
Gene ExpressionUSP53 [ NCBI-GEO ]   USP53 [ EBI - ARRAY_EXPRESS ]   USP53 [ SEEK ]   USP53 [ MEM ]
Gene Expression Viewer (FireBrowse)USP53 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54532
GTEX Portal (Tissue expression)USP53
Human Protein AtlasENSG00000145390-USP53 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ70EK8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ70EK8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ70EK8
Splice isoforms : SwissVarQ70EK8
PhosPhoSitePlusQ70EK8
Domaine pattern : Prosite (Expaxy)USP_3 (PS50235)   
Domains : Interpro (EBI)Peptidase_C19_UCH    USP_dom   
Domain families : Pfam (Sanger)UCH (PF00443)   
Domain families : Pfam (NCBI)pfam00443   
Conserved Domain (NCBI)USP53
DMDM Disease mutations54532
Blocks (Seattle)USP53
SuperfamilyQ70EK8
Human Protein Atlas [tissue]ENSG00000145390-USP53 [tissue]
Peptide AtlasQ70EK8
HPRD11669
IPIIPI00292934   IPI00966969   IPI00966650   
Protein Interaction databases
DIP (DOE-UCLA)Q70EK8
IntAct (EBI)Q70EK8
FunCoupENSG00000145390
BioGRIDUSP53
STRING (EMBL)USP53
ZODIACUSP53
Ontologies - Pathways
QuickGOQ70EK8
Ontology : AmiGOaction potential  protein binding  cellular_component  bicellular tight junction  sensory perception of sound  biological_process  response to auditory stimulus  protein deubiquitination  thiol-dependent ubiquitinyl hydrolase activity  neuron apoptotic process  
Ontology : EGO-EBIaction potential  protein binding  cellular_component  bicellular tight junction  sensory perception of sound  biological_process  response to auditory stimulus  protein deubiquitination  thiol-dependent ubiquitinyl hydrolase activity  neuron apoptotic process  
NDEx NetworkUSP53
Atlas of Cancer Signalling NetworkUSP53
Wikipedia pathwaysUSP53
Orthology - Evolution
OrthoDB54532
GeneTree (enSembl)ENSG00000145390
Phylogenetic Trees/Animal Genes : TreeFamUSP53
HOVERGENQ70EK8
HOGENOMQ70EK8
Homologs : HomoloGeneUSP53
Homology/Alignments : Family Browser (UCSC)USP53
Gene fusions - Rearrangements
Tumor Fusion PortalUSP53
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUSP53 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)USP53
dbVarUSP53
ClinVarUSP53
1000_GenomesUSP53 
Exome Variant ServerUSP53
ExAC (Exome Aggregation Consortium)ENSG00000145390
GNOMAD BrowserENSG00000145390
Genetic variants : HAPMAP54532
Genomic Variants (DGV)USP53 [DGVbeta]
DECIPHERUSP53 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUSP53 
Mutations
ICGC Data PortalUSP53 
TCGA Data PortalUSP53 
Broad Tumor PortalUSP53
OASIS PortalUSP53 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUSP53  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUSP53
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch USP53
DgiDB (Drug Gene Interaction Database)USP53
DoCM (Curated mutations)USP53 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)USP53 (select a term)
intoGenUSP53
Cancer3DUSP53(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617431   
Orphanet
DisGeNETUSP53
MedgenUSP53
Genetic Testing Registry USP53
NextProtQ70EK8 [Medical]
TSGene54532
GENETestsUSP53
Target ValidationUSP53
Huge Navigator USP53 [HugePedia]
snp3D : Map Gene to Disease54532
BioCentury BCIQUSP53
ClinGenUSP53
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54532
Chemical/Pharm GKB GenePA134940368
Clinical trialUSP53
Miscellaneous
canSAR (ICR)USP53 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUSP53
EVEXUSP53
GoPubMedUSP53
iHOPUSP53
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:11:15 CET 2017

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