USP53

Inactive ubiquitin carboxyl-terminal hydrolase 53 is a protein that in humans is encoded by the USP53 gene.^[5]

USP53
Identifiers
Aliases	USP53, ubiquitin specific peptidase 53
External IDs	OMIM: 617431; MGI: 2139607; HomoloGene: 34521; GeneCards: USP53; OMA:USP53 - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q26 Start 119,212,587 bp[1] End 119,295,517 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 G1 Start 122,725,142 bp[2] End 122,778,159 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon tibial nerve gastric mucosa right lung germinal epithelium sural nerve lower lobe of lung epithelium of colon trigeminal ganglion tibia Top expressed in gastrula decidua lumbar subsegment of spinal cord epithelium of stomach conjunctival fornix left colon median eminence intercostal muscle spermatid spermatocyte More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding thiol-dependent deubiquitinase Cellular component cell-cell junction bicellular tight junction cell junction cellular component Biological process protein deubiquitination hearing action potential apoptotic process response to auditory stimulus neuron apoptotic process biological process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54532 99526 Ensembl ENSG00000145390 ENSMUSG00000039701 UniProt Q70EK8 P15975 RefSeq (mRNA) NM_019050 NM_001371395 NM_001371396 NM_001371397 NM_001371398 NM_001371399 NM_133857 RefSeq (protein) NP_061923 NP_001358324 NP_001358325 NP_001358326 NP_001358327 NP_001358328 NP_598618 Location (UCSC) Chr 4: 119.21 – 119.3 Mb Chr 3: 122.73 – 122.78 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Although USP53 is classified as a deubiquitinating enzyme based on sequence homology to other proteases from this group, it lacks a functionally essential histidine in the catalytic domaine and activity assays suggest that USP53 is catalytically inactive. ^[6][7][8] Even though USP53 is devoid of catalytic activity, USP53 serves important physiological functions: mutations in Usp53 have been shown to cause progressive hearing loss in mice,^[8] as well as late-onset hearing loss and cholestasis in humans.^[9] USP53 localizes at cellular tight junctions and interacts with tight junction protein 2 (TJP2).^[8] Mutations in TJP2 have also been shown to cause hearing impairments^[10] and cholestasis.^[11]