USP53

USP53
Identifikatori
Aliasi	USP53
Vanjski ID-jevi	OMIM: 617431 MGI: 2139607 HomoloGene: 34521 GeneCards: USP53
Lokacija gena (čovjek)
Hrom.	Hromosom 4 (čovjek)
Kraj	119,295,517 bp
Lokacija gena (miš)
Hrom.	Hromosom 3 (miš)
Kraj	122,778,159 bp
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine; • thiol-dependent deubiquitinase;
Ćelijska komponenta	• cell-cell junction; • bicellular tight junction; • međućelijske veze; • ćelijska komponenta;
Biološki proces	• protein deubiquitination; • sluh; • Akcijski potencijal; • GO:0097285 apoptoza; • response to auditory stimulus; • neuron apoptotic process; • GO:0022610 biološki proces;
	Izvori:Amigo / QuickGO
Ortolozi
	54532
	99526
	ENSG00000145390
	ENSMUSG00000039701
	Q70EK8
	P15975
NM_019050; NM_001371395; NM_001371396; NM_001371397; NM_001371398;
	NM_001371399
	NM_133857
NP_061923; NP_001358324; NP_001358325; NP_001358326; NP_001358327;
	NP_001358328
	NP_598618
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Neaktivna ubikvitin karboksil-terminalna hidrolaza 53 jest protein/enzim koji je kod ljudi kodiran genom USP53 sa hromosoma 4.^[5]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 1.073 aminokiselina, а molekulska težina 120.806 Da.^[6]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

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

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

^ ^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

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.

Vanjski linkovi

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000145390 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000039701 - Ensembl, maj 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.

[pmid10718198-5] 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-6] "UniProt, Q70EK8" (jezik: engleski). Pristupljeno 27. 10. 2021.

[pmid14715245-7] 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-8] "Entrez Gene: USP53 ubiquitin specific peptidase 53".

[pmid26609154-9] 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.

[epub_ahead_of_print-10] 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.

[pmid26668150-11] 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.

[pmid24614073-12] 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.

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