USP53
Neaktivna ubikvitin karboksil-terminalna hidrolaza 53 jest protein/enzim koji je kod ljudi kodiran genom USP53 sa hromosoma 4.[5]
Aminokiselinska sekvenca[uredi | uredi izvor]
Dužina polipeptidnog lanca je 1.073 aminokiselina, а molekulska težina 120.806 Da.[6]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MAWVKFLRKP | GGNLGKVYQP | GSMLSLAPTK | GLLNEPGQNS | CFLNSAVQVL | ||||
| WQLDIFRRSL | RVLTGHVCQG | DACIFCALKT | IFAQFQHSRE | KALPSDNIRH | ||||
| ALAESFKDEQ | RFQLGLMDDA | AECFENMLER | IHFHIVPSRD | ADMCTSKSCI | ||||
| THQKFAMTLY | EQCVCRSCGA | SSDPLPFTEF | VRYISTTALC | NEVERMLERH | ||||
| ERFKPEMFAE | LLQAANTTDD | YRKCPSNCGQ | KIKIRRVLMN | CPEIVTIGLV | ||||
| WDSEHSDLTE | AVVRNLATHL | YLPGLFYRVT | DENAKNSELN | LVGMICYTSQ | ||||
| HYCAFAFHTK | SSKWVFFDDA | NVKEIGTRWK | DVVSKCIRCH | FQPLLLFYAN | ||||
| PDGTAVSTED | ALRQVISWSH | YKSVAENMGC | EKPVIHKSDN | LKENGFGDQA | ||||
| KQRENQKFPT | DNISSSNRSH | SHTGVGKGPA | KLSHIDQREK | IKDISRECAL | ||||
| KAIEQKNLLS | SQRKDLEKGQ | RKDLGRHRDL | VDEDLSHFQS | GSPPAPNGFK | ||||
| QHGNPHLYHS | QGKGSYKHDR | VVPQSRASAQ | IISSSKSQIL | APGEKITGKV | ||||
| KSDNGTGYDT | DSSQDSRDRG | NSCDSSSKSR | NRGWKPMRET | LNVDSIFSES | ||||
| EKRQHSPRHK | PNISNKPKSS | KDPSFSNWPK | ENPKQKGLMT | IYEDEMKQEI | ||||
| GSRSSLESNG | KGAEKNKGLV | EGKVHGDNWQ | MQRTESGYES | SDHISNGSTN | ||||
| LDSPVIDGNG | TVMDISGVKE | TVCFSDQITT | SNLNKERGDC | TSLQSQHHLE | ||||
| GFRKELRNLE | AGYKSHEFHP | ESHLQIKNHL | IKRSHVHEDN | GKLFPSSSLQ | ||||
| IPKDHNAREH | IHQSDEQKLE | KPNECKFSEW | LNIENSERTG | LPFHVDNSAS | ||||
| GKRVNSNEPS | SLWSSHLRTV | GLKPETAPLI | QQQNIMDQCY | FENSLSTECI | ||||
| IRSASRSDGC | QMPKLFCQNL | PPPLPPKKYA | ITSVPQSEKS | ESTPDVKLTE | ||||
| VFKATSHLPK | HSLSTASEPS | LEVSTHMNDE | RHKETFQVRE | CFGNTPNCPS | ||||
| SSSTNDFQAN | SGAIDAFCQP | ELDSISTCPN | ETVSLTTYFS | VDSCMTDTYR | ||||
| LKYHQRPKLS | FPESSGFCNN | SLS |
Funkcija[uredi | uredi izvor]
Iako je USP53 klasifikovan kao deubikvitinirajući enzim na osnovu homologije sekvence sa drugim proteazama iz ove grupe, nedostaje mu funkcionalno esencijalni histidin u katalitičkom domenu, a testovi aktivnosti ukazuju na to da je USP53 katalitski neaktivan.[7][8][9] Iako je USP53 lišen katalitske aktivnosti, USP53 služi važnim fiziološkim funkcijama:
- pokazalo se da mutacije u Usp53 uzrokuju progresivni gubitak sluha kod miševa,[9] kao i kasni gubitak sluha i holestazu kod ljudi.[10]
USP53 nalazi se na ćelijskim uskim spojevima i stupa u interakciju s proteinom čvrstih spojeva 2 (TJP2).[9] Mutacije TJP2 uzrokuju smetnje u čulu sluha[11] i holestazu.[12]
Reference[uredi | uredi izvor]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000145390 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039701 - Ensembl, maj 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (februar 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.
- ^ "UniProt, Q70EK8" (jezik: engleski). Pristupljeno 27. 10. 2021.
- ^ Quesada V, Díaz-Perales A, Gutiérrez-Fernández A, Garabaya C, Cal S, López-Otín C (januar 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.
- ^ "Entrez Gene: USP53 ubiquitin specific peptidase 53".
- ^ a b c Kazmierczak M, Harris SL, Kazmierczak P, Shah P, Starovoytov V, Ohlemiller KK, Schwander M (novembar 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.
- ^ 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 (septembar 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.
- ^ Wang HY, Zhao YL, Liu Q, Yuan H, Gao Y, Lan L, Yu L, Wang DY, Guan J, Wang QJ (decembar 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.
- ^ 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 (oktobar 2014). "Mutations in TJP2 cause progressive cholestatic liver disease". Nature Genetics. 46 (4): 326–328. doi:10.1038/ng.2918. PMC 4061468. PMID 24614073.
Dopunska literatura[uredi | uredi izvor]
- 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 (januar 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 (oktobar 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
- Ozyildirim AM, Wistow GJ, Gao J, Wang J, Dickinson DP, Frierson HF, Laurie GW (maj 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.