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'''Inactive ubiquitin carboxyl-terminal hydrolase 53''' is an [[enzyme]] that in humans is encoded by the ''USP53'' [[gene]].<ref name="pmid10718198">{{cite journal | vauthors = Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O | title = 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 | journal = DNA Res | volume = 7 | issue = 1 | pages = 65–73 |date=Apr 2000 | pmid = 10718198 | pmc =  | doi =10.1093/dnares/7.1.65 }}</ref><ref name="pmid14715245">{{cite journal | vauthors = Quesada V, Diaz-Perales A, Gutierrez-Fernandez A, Garabaya C, Cal S, Lopez-Otin C | title = Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases | journal = Biochem Biophys Res Commun | volume = 314 | issue = 1 | pages = 54–62 |date=Jan 2004 | pmid = 14715245 | pmc =  | doi =10.1016/j.bbrc.2003.12.050  }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: USP53 ubiquitin specific peptidase 53| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54532| accessdate = }}</ref>
'''Inactive ubiquitin carboxyl-terminal hydrolase 53''' is a [[protein]] that in humans is encoded by the ''USP53'' [[gene]].<ref name="pmid10718198">{{cite journal | vauthors = Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O | title = 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 | journal = DNA Research | volume = 7 | issue = 1 | pages = 65–73 | date = February 2000 | pmid = 10718198 | pmc =  | doi = 10.1093/dnares/7.1.65 }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
Although USP53 is classified as a [[deubiquitinating enzyme]] based on sequence homology to other [[proteases]] from this group, it lacks a functionally essential histydine in the catalytic domaine and activity assays suggest that USP53 is catalytically inactive.
{{PBB_Summary
<ref name="pmid14715245">{{cite journal | vauthors = Quesada V, Díaz-Perales A, Gutiérrez-Fernández A, Garabaya C, Cal S, López-Otín C | title = Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases | journal = Biochemical and Biophysical Research Communications | volume = 314 | issue = 1 | pages = 54–62 | date = January 2004 | pmid = 14715245 | pmc =  | doi = 10.1016/j.bbrc.2003.12.050 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: USP53 ubiquitin specific peptidase 53| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54532| access-date = }}</ref><ref name="pmid26609154">{{cite journal | vauthors = Kazmierczak M, Harris SL, Kazmierczak P, Shah P, Starovoytov V, Ohlemiller KK, Schwander M | title = Progressive Hearing Loss in Mice Carrying a Mutation in Usp53 | journal = The Journal of Neuroscience | volume = 35 | issue = 47 | pages = 15582–98 | date = November 2015 | pmid = 26609154 | pmc = 4659823 | doi = 10.1523/JNEUROSCI.1965-15.2015 }}</ref> Even though USP53 is devoid of catalytic activity, USP53 serves important physiological functions:
| section_title =  
mutations in ''Usp53'' have been shown to cause progressive hearing loss in mice,<ref name="pmid26609154"/> as well as late-onset hearing loss and [[cholestasis]] in humans.<ref name="epub ahead of print">{{cite journal | vauthors = 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 | title = Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants. | journal = Genetics in Medicine | date = September 2018 | doi = 10.1038/s41436-018-0288-x }}</ref>
| summary_text =  
USP53 localizes at cellular [[tight junctions]] and interacts with [[tight junction protein 2]] (TJP2).<ref name="pmid26609154"/> Mutations in ''TJP2'' have also been shown to cause hearing impairments <ref name="pmid26668150">{{cite journal | vauthors = Wang HY, Zhao YL, Liu Q, Yuan H, Gao Y, Lan L, Yu L, Wang DY, Guan J, Wang QJ | title = Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment | journal = Chinese Medical Journal | volume = 128 | issue = 24 | pages = 3345–51 | date = December 2015 | pmid = 26668150 | pmc = 4797511 | doi = 10.4103/0366-6999.171440 }}</ref> and cholestasis.<ref name="pmid24614073">{{cite journal | vauthors = 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| title = Mutations in TJP2 cause progressive cholestatic liver disease | journal = Nature Genetics | volume = 46 | issue = 4 | pages =  326–328| date = October 2014 | pmid = 24614073 | pmc = 4061468 | doi = 10.1038/ng.2918}}</ref>
}}


==References==
== References ==
{{reflist}}
{{reflist}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = 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 | title = Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes | journal = Genome Research | volume = 16 | issue = 1 | pages = 55–65 | date = January 2006 | pmid = 16344560 | pmc = 1356129 | doi = 10.1101/gr.4039406 }}
| citations =
* {{cite journal | vauthors = 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 | title = Towards a proteome-scale map of the human protein-protein interaction network | journal = Nature | volume = 437 | issue = 7062 | pages = 1173–8 | date = October 2005 | pmid = 16189514 | doi = 10.1038/nature04209 }}
*{{cite journal   |vauthors=Kimura K, Wakamatsu A, Suzuki Y, etal |title=Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 | pmc=1356129 }}
* {{cite journal | vauthors = Ozyildirim AM, Wistow GJ, Gao J, Wang J, Dickinson DP, Frierson HF, Laurie GW | title = The lacrimal gland transcriptome is an unusually rich source of rare and poorly characterized gene transcripts | journal = Investigative Ophthalmology & Visual Science | volume = 46 | issue = 5 | pages = 1572–80 | date = May 2005 | pmid = 15851553 | doi = 10.1167/iovs.04-1380 }}
*{{cite journal   |vauthors=Rual JF, Venkatesan K, Hao T, etal |title=Towards a proteome-scale map of the human protein-protein interaction network |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
*{{cite journal   |vauthors=Ozyildirim AM, Wistow GJ, Gao J, etal |title=The lacrimal gland transcriptome is an unusually rich source of rare and poorly characterized gene transcripts |journal=Invest. Ophthalmol. Vis. Sci. |volume=46 |issue= 5 |pages= 1572–80 |year= 2005 |pmid= 15851553 |doi= 10.1167/iovs.04-1380 }}
*{{cite journal  |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928 }}
*{{cite journal  |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 }}
}}
{{refend}}
{{refend}}
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Revision as of 22:14, 29 November 2018

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SpeciesHumanMouse
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Inactive ubiquitin carboxyl-terminal hydrolase 53 is a protein that in humans is encoded by the USP53 gene.[1]

Although USP53 is classified as a deubiquitinating enzyme based on sequence homology to other proteases from this group, it lacks a functionally essential histydine in the catalytic domaine and activity assays suggest that USP53 is catalytically inactive. [2][3][4] 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,[4] as well as late-onset hearing loss and cholestasis in humans.[5] USP53 localizes at cellular tight junctions and interacts with tight junction protein 2 (TJP2).[4] Mutations in TJP2 have also been shown to cause hearing impairments [6] and cholestasis.[7]

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ "Entrez Gene: USP53 ubiquitin specific peptidase 53".
  4. ↑ 4.0 4.1 4.2 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.
  5. ↑ 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. doi:10.1038/s41436-018-0288-x.
  6. ↑ 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.
  7. ↑ 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. doi:10.1038/nature04209. PMID 16189514.
  • 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. doi:10.1167/iovs.04-1380. PMID 15851553.


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