USP6

USP6
Identifikatori
Aliasi	USP6
Vanjski ID-jevi	OMIM: 604334 HomoloGene: 136783 GeneCards: USP6
Lokacija gena (čovjek)
Hrom.	Hromosom 17 (čovjek)
Kraj	5,175,034 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• thiol-dependent deubiquitinase; • GO:0070122 peptidase activity; • cysteine-type endopeptidase activity; • cysteine-type peptidase activity; • GO:0001948, GO:0016582 vezivanje za proteine; • hydrolase activity; • nucleic acid binding; • GO:0005097, GO:0005099, GO:0005100 GTPase activator activity; • calmodulin binding;
Ćelijska komponenta	• citoplazma; • reciklirajući endosom; • endozom; • ćelijska membrana; • Lizozom; • membrana;
Biološki proces	• protein deubiquitination; • regulation of vesicle-mediated transport; • ubiquitin-dependent protein catabolic process; • Proteoliza; • intracellular protein transport; • regulation of vesicle fusion; • GO:0032861, GO:0032862, GO:0032856 activation of GTPase activity;
	Izvori:Amigo / QuickGO
Ortolozi
	9098
	n/a
	ENSG00000129204
	n/a
	P35125
	n/a
	NM_001304284; NM_004505; NM_005152
	n/a
	NP_001291213; NP_004496
	n/a
	Wikipodaci
Pogledaj/uredi – čovjek

Ubikvitin karboksil-terminalna hidrolaza 6 je enzim koji je kod ljudi kodiran genom USP6.^[3]^[4]^[5]

Aneurizamska cista kostiju može se povezati sa translokacijom TRE17/USP6 na hromosomu 17.^[6]

Dužina polipeptidnog lanca je 1.406 aminokiselina, a molekulska težina 158.658 Da.^[7].

Aminokiselinska sekvenca

Simboli

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
MDMVENADSL	QAQERKDILM	KYDKGHRAGL	PEDKGPEPVG	INSSIDRFGI
LHETELPPVT	AREAKKIRRE	MTRTSKWMEM	LGEWETYKHS	SKLIDRVYKG
IPMNIRGPVW	SVLLNIQEIK	LKNPGRYQIM	KERGKRSSEH	IHHIDLDVRT
TLRNHVFFRD	RYGAKQRELF	YILLAYSEYN	PEVGYCRDLS	HITALFLLYL
PEEDAFWALV	QLLASERHSL	PGFHSPNGGT	VQGLQDQQEH	VVPKSQPKTM
WHQDKEGLCG	QCASLGCLLR	NLIDGISLGL	TLRLWDVYLV	EGEQVLMPIT
SIALKVQQKR	LMKTSRCGLW	ARLRNQFFDT	WAMNDDTVLK	HLRASTKKLT
RKQGDLPPPA	KREQGSLAPR	PVPASRGGKT	LCKGYRQAPP	GPPAQFQRPI
CSASPPWASR	FSTPCPGGAV	REDTYPVGTQ	GVPSLALAQG	GPQGSWRFLE
WKSMPRLPTD	LDIGGPWFPH	YDFEWSCWVR	AISQEDQLAT	CWQAEHCGEV
HNKDMSWPEE	MSFTANSSKI	DRQKVPTEKG	ATGLSNLGNT	CFMNSSIQCV
SNTQPLTQYF	ISGRHLYELN	RTNPIGMKGH	MAKCYGDLVQ	ELWSGTQKSV
APLKLRRTIA	KYAPKFDGFQ	QQDSQELLAF	LLDGLHEDLN	RVHEKPYVEL
KDSDGRPDWE	VAAEAWDNHL	RRNRSIIVDL	FHGQLRSQVK	CKTCGHISVR
FDPFNFLSLP	LPMDSYMDLE	ITVIKLDGTT	PVRYGLRLNM	DEKYTGLKKQ
LRDLCGLNSE	QILLAEVHDS	NIKNFPQDNQ	KVQLSVSGFL	CAFEIPVPSS
PISASSPTQI	DFSSSPSTNG	MFTLTTNGDL	PKPIFIPNGM	PNTVVPCGTE
KNFTNGMVNG	HMPSLPDSPF	TGYIIAVHRK	MMRTELYFLS	PQENRPSLFG
MPLIVPCTVH	TRKKDLYDAV	WIQVSWLARP	LPPQEASIHA	QDRDNCMGYQ
YPFTLRVVQK	DGNSCAWCPQ	YRFCRGCKID	CGEDRAFIGN	AYIAVDWHPT
ALHLRYQTSQ	ERVVDKHESV	EQSRRAQAEP	INLDSCLRAF	TSEEELGESE
MYYCSKCKTH	CLATKKLDLW	RLPPFLIIHL	KRFQFVNDQW	IKSQKIVRFL
RESFDPSAFL	VPRDPALCQH	KPLTPQGDEL	SKPRILAREV	KKVDAQSSAG
KEDMLLSKSP	SSLSANISSS	PKGSPSSSRK	SGTSCPSSKN	SSPNSSPRTL
GRSKGRLRLP	QIGSKNKPSS	SKKNLDASKE	NGAGQICELA	DALSRGHMRG
GSQPELVTPQ	DHEVALANGF	LYEHEACGNG	CGDGYSNGQL	GNHSEEDSTD
DQREDTHIKP	IYNLYAISCH	SGILSGGHYI	TYAKNPNCKW	YCYNDSSCEE
LHPDEIDTDS	AYILFYEQQG	IDYAQFLPKI	DGKKMADTSS	TDEDSESDYE
KYSMLQ

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000129204 - Ensembl, maj 2017
^ "Human 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.
^ Hoogendijk JE, Hensels GW, Gabreels-Festen AA, Gabreels FJ, Janssen EA, de Jonghe P, Martin JJ, van Broeckhoven C, Valentijn LJ, Baas F, et al. (maj 1992). "De-novo mutation in hereditary motor and sensory neuropathy type I". Lancet. 339 (8801): 1081–2. doi:10.1016/0140-6736(92)90668-S. PMID 1349106. S2CID 35908066.
^ "Entrez Gene: USP6 ubiquitin specific peptidase 6 (Tre-2 oncogene)".
^ Ye Y, Pringle LM, Lau AW, et al. (juni 2010). "TRE17/USP6 oncogene translocated in aneurysmal bone cyst induces matrix metalloproteinase production via activation of NFκB". Oncogene. 29 (25): 3619–29. doi:10.1038/onc.2010.116. PMC 2892027. PMID 20418905.
^ "UniProt, P35125". Pristupljeno , June 17, 2021. Provjerite vrijednost datuma u parametru: |access-date= (pomoć)

Dopunska literatura

D'Andrea A, Pellman D (1999). "Deubiquitinating enzymes: a new class of biological regulators". Crit. Rev. Biochem. Mol. Biol. 33 (5): 337–52. doi:10.1080/10409239891204251. PMID 9827704.
Nakamura T, Hillova J, Mariage-Samson R, et al. (1992). "A novel transcriptional unit of the tre oncogene widely expressed in human cancer cells". Oncogene. 7 (4): 733–41. PMID 1565468.
Papa FR, Hochstrasser M (1993). "The yeast DOA4 gene encodes a deubiquitinating enzyme related to a product of the human tre-2 oncogene". Nature. 366 (6453): 313–9. doi:10.1038/366313a0. PMID 8247125. S2CID 4273807.
Onno M, Nakamura T, Hillova J, Hill M (1993). "Identification of novel sequences in the repertoire of hypervariable TRE17 genes from immortalized nonmalignant and malignant human keratinocytes". Gene. 131 (2): 209–15. doi:10.1016/0378-1119(93)90295-E. PMID 8406013.
Onno M, Nakamura T, Mariage-Samson R, et al. (1993). "Human TRE17 oncogene is generated from a family of homologous polymorphic sequences by single-base changes". DNA Cell Biol. 12 (2): 107–18. doi:10.1089/dna.1993.12.107. PMID 8471161.
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.
Paulding CA, Ruvolo M, Haber DA (2003). "The Tre2 (USP6) oncogene is a hominoid-specific gene". Proc. Natl. Acad. Sci. U.S.A. 100 (5): 2507–11. doi:10.1073/pnas.0437015100. PMC 151371. PMID 12604796.
Masuda-Robens JM, Kutney SN, Qi H, Chou MM (2003). "The TRE17 Oncogene Encodes a Component of a Novel Effector Pathway for Rho GTPases Cdc42 and Rac1 and Stimulates Actin Remodeling". Mol. Cell. Biol. 23 (6): 2151–61. doi:10.1128/MCB.23.6.2151-2161.2003. PMC 149457. PMID 12612085.
Bizimungu C, De Neve N, Burny A, et al. (2003). "Expression in a RabGAP yeast mutant of two human homologues, one of which is an oncogene". Biochem. Biophys. Res. Commun. 310 (2): 498–504. doi:10.1016/j.bbrc.2003.09.051. PMID 14521938.
Oliveira AM, Hsi BL, Weremowicz S, et al. (2004). "USP6 (Tre2) fusion oncogenes in aneurysmal bone cyst". Cancer Res. 64 (6): 1920–3. doi:10.1158/0008-5472.CAN-03-2827. PMID 15026324.
Oliveira AM, Perez-Atayde AR, Inwards CY, et al. (2004). "USP6 and CDH11 oncogenes identify the neoplastic cell in primary aneurysmal bone cysts and are absent in so-called secondary aneurysmal bone cysts". Am. J. Pathol. 165 (5): 1773–80. doi:10.1016/S0002-9440(10)63432-3. PMC 3278819. PMID 15509545.
Martinu L, Masuda-Robens JM, Robertson SE, et al. (2004). "The TBC (Tre-2/Bub2/Cdc16) Domain Protein TRE17 Regulates Plasma Membrane-Endosomal Trafficking through Activation of Arf6". Mol. Cell. Biol. 24 (22): 9752–62. doi:10.1128/MCB.24.22.9752-9762.2004. PMC 525471. PMID 15509780.
Oliveira AM, Perez-Atayde AR, Dal Cin P, et al. (2005). "Aneurysmal bone cyst variant translocations upregulate USP6 transcription by promoter swapping with the ZNF9, COL1A1, TRAP150, and OMD genes". Oncogene. 24 (21): 3419–26. doi:10.1038/sj.onc.1208506. PMID 15735689.
Bizimungu C, Vandenbol M (2005). "At least two regions of the oncoprotein Tre2 are involved in its lack of GAP activity". Biochem. Biophys. Res. Commun. 335 (3): 883–90. doi:10.1016/j.bbrc.2005.07.159. PMID 16099424.
Shen C, Ye Y, Robertson SE, et al. (2006). "Calcium/calmodulin regulates ubiquitination of the ubiquitin-specific protease TRE17/USP6". J. Biol. Chem. 280 (43): 35967–73. doi:10.1074/jbc.M505220200. PMID 16127172.
Dechamps C, Bach S, Portetelle D, Vandenbol M (2006). "The Tre2 oncoprotein, implicated in Ewing's sarcoma, interacts with two components of the cytoskeleton". Biotechnol. Lett. 28 (4): 223–31. doi:10.1007/s10529-005-5523-2. PMID 16555005. S2CID 25625056.

Vanjski linkovi

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000129204 - Ensembl, maj 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid12838346-3] 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.

[pmid1349106-4] Hoogendijk JE, Hensels GW, Gabreels-Festen AA, Gabreels FJ, Janssen EA, de Jonghe P, Martin JJ, van Broeckhoven C, Valentijn LJ, Baas F, et al. (maj 1992). "De-novo mutation in hereditary motor and sensory neuropathy type I". Lancet. 339 (8801): 1081–2. doi:10.1016/0140-6736(92)90668-S. PMID 1349106. S2CID 35908066.

[entrez-5] "Entrez Gene: USP6 ubiquitin specific peptidase 6 (Tre-2 oncogene)".

[pmid20418905-6] Ye Y, Pringle LM, Lau AW, et al. (juni 2010). "TRE17/USP6 oncogene translocated in aneurysmal bone cyst induces matrix metalloproteinase production via activation of NFκB". Oncogene. 29 (25): 3619–29. doi:10.1038/onc.2010.116. PMC 2892027. PMID 20418905.

[UniProt-7] "UniProt, P35125". Pristupljeno , June 17, 2021. Provjerite vrijednost datuma u parametru: |access-date= (pomoć)

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