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USP53 (ubiquitin specific peptidase 53)

Identity

Alias (NCBI)-
HGNC (Hugo) USP53
HGNC Alias symbKIAA1350
HGNC Previous nameubiquitin specific protease 53
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    ubiquitin specific peptidase 53
Aliases
GeneCards (Weizmann)USP53
Ensembl hg19 (Hinxton)ENSG00000145390 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000145390 [Gene_View]  ENSG00000145390 [Sequence]  chr4:119212627-119295518 [Contig_View]  USP53 [Vega]
ICGC DataPortalENSG00000145390
TCGA cBioPortalUSP53
AceView (NCBI)USP53
Genatlas (Paris)USP53
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)
GoldenPathUSP53 - 4q26 [CytoView hg19]  USP53 - 4q26 [CytoView hg38]
ImmunoBaseENSG00000145390
Genome Data Viewer NCBIUSP53 [Mapview hg19]  
OMIM617431   
Gene and transcription
Genbank (Entrez)AB037771 AF085848 AJ583824 AK022799 AK025233
RefSeq transcript (Entrez)NM_001371395 NM_001371396 NM_001371397 NM_001371398 NM_001371399 NM_001389658 NM_001389659 NM_001389660 NM_001389661 NM_001389662 NM_001389663 NM_001389664 NM_001389665 NM_001389666 NM_001389667 NM_019050
Consensus coding sequences : CCDS (NCBI)USP53
Gene ExpressionUSP53 [ NCBI-GEO ]   USP53 [ EBI - ARRAY_EXPRESS ]   USP53 [ SEEK ]   USP53 [ MEM ]
Gene Expression Viewer (FireBrowse)USP53 [ Firebrowse - Broad ]
GenevisibleExpression of USP53 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
PhosPhoSitePlusQ70EK8
Domaine pattern : Prosite (Expaxy)USP_3 (PS50235)   
Domains : Interpro (EBI)Papain-like_cys_pep_sf    Peptidase_C19_UCH    USP53    USP_dom   
Domain families : Pfam (Sanger)UCH (PF00443)   
Domain families : Pfam (NCBI)pfam00443   
Conserved Domain (NCBI)USP53
SuperfamilyQ70EK8
AlphaFold pdb e-kbQ70EK8   
Human Protein Atlas [tissue]ENSG00000145390-USP53 [tissue]
HPRD11669
Protein Interaction databases
DIP (DOE-UCLA)Q70EK8
IntAct (EBI)Q70EK8
BioGRIDUSP53
STRING (EMBL)USP53
ZODIACUSP53
Ontologies - Pathways
QuickGOQ70EK8
Ontology : AmiGOaction potential  thiol-dependent deubiquitinase  protein binding  cellular_component  cell-cell junction  bicellular tight junction  sensory perception of sound  biological_process  response to auditory stimulus  protein deubiquitination  neuron apoptotic process  
Ontology : EGO-EBIaction potential  thiol-dependent deubiquitinase  protein binding  cellular_component  cell-cell junction  bicellular tight junction  sensory perception of sound  biological_process  response to auditory stimulus  protein deubiquitination  neuron apoptotic process  
NDEx NetworkUSP53
Atlas of Cancer Signalling NetworkUSP53
Wikipedia pathwaysUSP53
Orthology - Evolution
OrthoDB54532
GeneTree (enSembl)ENSG00000145390
Phylogenetic Trees/Animal Genes : TreeFamUSP53
Homologs : HomoloGeneUSP53
Homology/Alignments : Family Browser (UCSC)USP53
Gene fusions - Rearrangements
Fusion : QuiverUSP53
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUSP53 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)USP53
dbVarUSP53
ClinVarUSP53
MonarchUSP53
1000_GenomesUSP53 
Exome Variant ServerUSP53
GNOMAD BrowserENSG00000145390
Varsome BrowserUSP53
ACMGUSP53 variants
VarityQ70EK8
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]  
Somatic Mutations in Cancer : COSMIC3DUSP53
Mutations and Diseases : HGMDUSP53
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaUSP53
DgiDB (Drug Gene Interaction Database)USP53
DoCM (Curated mutations)USP53
CIViC (Clinical Interpretations of Variants in Cancer)USP53
Cancer3DUSP53
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617431   
Orphanet
DisGeNETUSP53
MedgenUSP53
Genetic Testing Registry USP53
NextProtQ70EK8 [Medical]
GENETestsUSP53
Target ValidationUSP53
Huge Navigator USP53 [HugePedia]
ClinGenUSP53
Clinical trials, drugs, therapy
MyCancerGenomeUSP53
Protein Interactions : CTDUSP53
Pharm GKB GenePA134940368
PharosQ70EK8
Clinical trialUSP53
Miscellaneous
canSAR (ICR)USP53
HarmonizomeUSP53
DataMed IndexUSP53
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXUSP53
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 16:28:02 CEST 2021

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