USP48

USP48
Identifikatori
Aliasi	USP48
Vanjski ID-jevi	OMIM: 617445 MGI: 2158502 HomoloGene: 12988 GeneCards: USP48
Lokacija gena (čovjek)
Hrom.	Hromosom 1 (čovjek)
Kraj	21,783,606 bp
Lokacija gena (miš)
Hrom.	Hromosom 4 (miš)
Kraj	137,658,537 bp
Obrazac RNK ekspresije
	; ; ; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• cysteine-type peptidase activity; • GO:0070122 peptidase activity; • hydrolase activity; • thiol-dependent deubiquitinase; • cysteine-type endopeptidase activity;
Ćelijska komponenta	• jedro; • mitohondrija; • nukleoplazma; • citoplazma; • citosol;
Biološki proces	• Proteoliza; • ubiquitin-dependent protein catabolic process; • protein deubiquitination;
	Izvori:Amigo / QuickGO
Ortolozi
	84196
	170707
	ENSG00000090686
	ENSMUSG00000043411
	Q86UV5
	Q3V0C5
NM_001032730; NM_032236; NM_001330394; NM_001350164; NM_001350166;
	NM_001350167; NM_001350168
	NM_130879; NM_001347227; NM_001355588
NP_001027902; NP_001317323; NP_115612; NP_001337093; NP_001337095;
	NP_001337096; NP_001337097
NP_001334156; NP_570949; NP_001342517; NP_001392866; NP_001392867;
	NP_001392868; NP_001392869; NP_001392871; NP_001392872; NP_001392873; NP_001392880; NP_001392881; NP_001392882; NP_001392883; NP_001392884
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Ubikvitin karboksil-terminalna hidrolaza 48 jest enzim koji je kod ljudi kodiran genom USP48 sa hromosoma 1.^[5]^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 1.035 aminokiselina, a molekulska težina 119.032 Da.^[7]

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
MAPRLQLEKA	AWRWAETVRP	EEVSQEHIET	AYRIWLEPCI	RGVCRRNCKG
NPNCLVGIGE	HIWLGEIDEN	SFHNIDDPNC	ERRKKNSFVG	LTNLGATCYV
NTFLQVWFLN	LELRQALYLC	PSTCSDYMLG	DGIQEEKDYE	PQTICEHLQY
LFALLQNSNR	RYIDPSGFVK	ALGLDTGQQQ	DAQEFSKLFM	SLLEDTLSKQ
KNPDVRNIVQ	QQFCGEYAYV	TVCNQCGRES	KLLSKFYELE	LNIQGHKQLT
DCISEFLKEE	KLEGDNRYFC	ENCQSKQNAT	RKIRLLSLPC	TLNLQLMRFV
FDRQTGHKKK	LNTYIGFSEI	LDMEPYVEHK	GGSYVYELSA	VLIHRGVSAY
SGHYIAHVKD	PQSGEWYKFN	DEDIEKMEGK	KLQLGIEEDL	AEPSKSQTRK
PKCGKGTHCS	RNAYMLVYRL	QTQEKPNTTV	QVPAFLQELV	DRDNSKFEEW
CIEMAEMRKQ	SVDKGKAKHE	EVKELYQRLP	AGAEPYEFVS	LEWLQKWLDE
STPTKPIDNH	ACLCSHDKLH	PDKISIMKRI	SEYAADIFYS	RYGGGPRLTV
KALCKECVVE	RCRILRLKNQ	LNEDYKTVNN	LLKAAVKGSD	GFWVGKSSLR
SWRQLALEQL	DEQDGDAEQS	NGKMNGSTLN	KDESKEERKE	EEELNFNEDI
LCPHGELCIS	ENERRLVSKE	AWSKLQQYFP	KAPEFPSYKE	CCSQCKILER
EGEENEALHK	MIANEQKTSL	PNLFQDKNRP	CLSNWPEDTD	VLYIVSQFFV
EEWRKFVRKP	TRCSPVSSVG	NSALLCPHGG	LMFTFASMTK	EDSKLIALIW
PSEWQMIQKL	FVVDHVIKIT	RIEVGDVNPS	ETQYISEPKL	CPECREGLLC
QQQRDLREYT	QATIYVHKVV	DNKKVMKDSA	PELNVSSSET	EEDKEEAKPD
GEKDPDFNQS	NGGTKRQKIS	HQNYIAYQKQ	VIRRSMRHRK	VRGEKALLVS
ANQTLKELKI	QIMHAFSVAP	FDQNLSIDGK	ILSDDCATLG	TLGVIPESVI
LLKADEPIAD	YAAMDDVMQV	CMPEEGFKGT	GLLGH

Funkcija

Ovaj gen kodira domene koji sadrže protein koji ga povezuju sa porodicom peptidaza C19, također poznatom kao porodics 2 ubikvitin karboksil-terminalnih hidrolaza. Članovi porodice funkcionišu kao deubikvitinirajući enzimi, prepoznajući i hidrolizirajući peptidnu vezu na C-terminalnom glicinu ubikvitina. Enzimi iz porodice peptidaza C19 uključeni su u prerdu poli-ubikvitinskih prekursora, kao i ubikvitiniranih proteina. Karakterizirane su alternativne varijante transkripta, koje kodiraju različite izoforme.^[6]

U melanocitnim ćelijama, ekspresija gena USP48 može biti regulirana transkripcijskim faktorom povezanims sa mikroftalmijom (MITF).^[8]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000090686 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000043411 - 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.
^ Puente XS, Sanchez LM, Overall CM, Lopez-Otin C (Jul 2003). "Human and mouse proteases: a comparative genomic approach". Nat Rev Genet. 4 (7): 544–58. doi:10.1038/nrg1111. PMID 12838346. S2CID 2856065.
^ ^a ^b "Entrez Gene: USP48 ubiquitin specific peptidase 48".
^ "UniProt, Q86UV5" (jezik: eng.). Pristupljeno 29. 11. 2021.CS1 održavanje: nepoznati jezik (link)
^ Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.

Dopunska literatura

Wilkinson KD (1998). "Regulation of ubiquitin-dependent processes by deubiquitinating enzymes". FASEB J. 11 (14): 1245–56. doi:10.1096/fasebj.11.14.9409543. PMID 9409543. S2CID 11788220.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Quesada V, Díaz-Perales A, Gutiérrez-Fernández A, et al. (2004). "Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases". Biochem. Biophys. Res. Commun. 314 (1): 54–62. doi:10.1016/j.bbrc.2003.12.050. PMID 14715245.
Suzuki Y, Yamashita R, Shirota M, et al. (2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC 515316. PMID 15342556.
Lockhart PJ, Hulihan M, Lincoln S, et al. (2004). "Identification of the human ubiquitin specific protease 31 (USP31) gene: structure, sequence and expression analysis". DNA Seq. 15 (1): 9–14. doi:10.1080/10855660310001638197. PMID 15354349. S2CID 36992328.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Tzimas C, Michailidou G, Arsenakis M, et al. (2006). "Human ubiquitin specific protease 31 is a deubiquitinating enzyme implicated in activation of nuclear factor-kappaB". Cell. Signal. 18 (1): 83–92. doi:10.1016/j.cellsig.2005.03.017. PMID 16214042.
Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.

Vanjski linkovi

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000090686 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000043411 - 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.

[pmid12838346-5] Puente XS, Sanchez LM, Overall CM, Lopez-Otin C (Jul 2003). "Human and mouse proteases: a comparative genomic approach". Nat Rev Genet. 4 (7): 544–58. doi:10.1038/nrg1111. PMID 12838346. S2CID 2856065.

[entrez-6] "Entrez Gene: USP48 ubiquitin specific peptidase 48".

[UniProt-7] "UniProt, Q86UV5" (jezik: eng.). Pristupljeno 29. 11. 2021.CS1 održavanje: nepoznati jezik (link)

[pmid19067971-8] Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.

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