USP53

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

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

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]

References

1. GRCh38: Ensembl release 89: ENSG00000145390 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000039701 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (February 2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 7 (1): 65–73. doi: 10.1093/dnares/7.1.65 . PMID   10718198.
6. Quesada V, Díaz-Perales A, Gutiérrez-Fernández A, Garabaya C, Cal S, López-Otín C (January 2004). "Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases". Biochemical and Biophysical Research Communications. 314 (1): 54–62. doi:10.1016/j.bbrc.2003.12.050. PMID   14715245.
7. "Entrez Gene: USP53 ubiquitin specific peptidase 53".
8. Kazmierczak M, Harris SL, Kazmierczak P, Shah P, Starovoytov V, Ohlemiller KK, Schwander M (November 2015). "Progressive Hearing Loss in Mice Carrying a Mutation in Usp53". The Journal of Neuroscience. 35 (47): 15582–98. doi:10.1523/JNEUROSCI.1965-15.2015. PMC   4659823 . PMID   26609154.
9. Maddirevula S, Alhebbi H, Alqahtani A, Algoufi T, Alsaif HS, Ibrahim N, Abdulwahab F, Barr M, Alzaidan H, Almehaideb A, AlSasi O, Alhashem A, Hussaini HA, Wali S, Alkuraya FS (September 2018). "Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants". Genetics in Medicine. 21 (5): 1164–1172. doi: 10.1038/s41436-018-0288-x . PMID   30250217. S2CID   52811525.
10. Wang HY, Zhao YL, Liu Q, Yuan H, Gao Y, Lan L, Yu L, Wang DY, Guan J, Wang QJ (December 2015). "Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment". Chinese Medical Journal. 128 (24): 3345–51. doi: 10.4103/0366-6999.171440 . PMC   4797511 . PMID   26668150.
11. Sambrotta M, Strautnieks S, Papouli E, Rushton P, Clark BE, Parry DA, Logan CV, Newbury LJ, Kamath BM, Ling S, Grammatikopoulos T, Wagner BE, Magee JC, Sokol RJ, Mieli-Vergani G, Smith JD, Johnson CA, McClean P, Simpson MA, Knisely AS, Bull LN, Thompson RJ (October 2014). "Mutations in TJP2 cause progressive cholestatic liver disease". Nature Genetics. 46 (4): 326–328. doi:10.1038/ng.2918. PMC   4061468 . PMID   24614073.

Further reading

• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC   1356129 . PMID   16344560.
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Ozyildirim AM, Wistow GJ, Gao J, Wang J, Dickinson DP, Frierson HF, Laurie GW (May 2005). "The lacrimal gland transcriptome is an unusually rich source of rare and poorly characterized gene transcripts". Investigative Ophthalmology & Visual Science. 46 (5): 1572–80. CiteSeerX   10.1.1.123.3574 . doi:10.1167/iovs.04-1380. PMID   15851553.