ZMYM2
MYM-tipski protein 2 cinkovog prsta je protein koji je kod ljudi koriran genom ZMYM2, sa hromosoma 13, 13q12.11, genomske koordinate (GRCh38): 13:19,957.422 – 20,089.114 bp.[5][6][7]
ZMYM2 sadrži domen DUF3504, srodan elementu tirozin-rekombinaza (YR) kriptonskih DNK transpozona prisutnih u nižim organizmima. Domen DUF3504 izveden je iz YR elementa kriptona, ali mu nedostaje potpuna katalitska tetrada bitna za aktivnost YR. Proteini koji sadrže domen DUF3504 funkcioniraju kao aktivatori transkripcije ili represori (Kojima i Jurka, 2011).[8]
Aminokiselinska sekvenca
urediDužina polipeptidnog lanca je 1.377 aminokiselina, a molekulska težina 154.911 Da.[9]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MDTSSVGGLE | LTDQTPVLLG | STAMATSLTN | VGNSFSGPAN | PLVSRSNKFQ | ||||
| NSSVEDDDDV | VFIEPVQPPP | PSVPVVADQR | TITFTSSKNE | ELQGNDSKIT | ||||
| PSSKELASQK | GSVSETIVID | DEEDMETNQG | QEKNSSNFIE | RRPPETKNRT | ||||
| NDVDFSTSSF | SRSKVNAGMG | NSGITTEPDS | EIQIANVTTL | ETGVSSVNDG | ||||
| QLENTDGRDM | NLMITHVTSL | QNTNLGDVSN | GLQSSNFGVN | IQTYTPSLTS | ||||
| QTKTGVGPFN | PGRMNVAGDV | FQNGESATHH | NPDSWISQSA | SFPRNQKQPG | ||||
| VDSLSPVASL | PKQIFQPSVQ | QQPTKPVKVT | CANCKKPLQK | GQTAYQRKGS | ||||
| AHLFCSTTCL | SSFSHKPAPK | KLCVMCKKDI | TTMKGTIVAQ | VDSSESFQEF | ||||
| CSTSCLSLYE | DKQNPTKGAL | NKSRCTICGK | LTEIRHEVSF | KNMTHKLCSD | ||||
| HCFNRYRMAN | GLIMNCCEQC | GEYLPSKGAG | NNVLVIDGQQ | KRFCCQSCVS | ||||
| EYKQVGSHPS | FLKEVRDHMQ | DSFLMQPEKY | GKLTTCTGCR | TQCRFFDMTQ | ||||
| CIGPNGYMEP | YCSTACMNSH | KTKYAKSQSL | GIICHFCKRN | SLPQYQATMP | ||||
| DGKLYNFCNS | SCVAKFQALS | MQSSPNGQFV | APSDIQLKCN | YCKNSFCSKP | ||||
| EILEWENKVH | QFCSKTCSDD | YKKLHCIVTY | CEYCQEEKTL | HETVNFSGVK | ||||
| RPFCSEGCKL | LYKQDFARRL | GLRCVTCNYC | SQLCKKGATK | ELDGVVRDFC | ||||
| SEDCCKKFQD | WYYKAARCDC | CKSQGTLKER | VQWRGEMKHF | CDQHCLLRFY | ||||
| CQQNEPNMTT | QKGPENLHYD | QGCQTSRTKM | TGSAPPPSPT | PNKEMKNKAV | ||||
| LCKPLTMTKA | TYCKPHMQTK | SCQTDDTWRT | EYVPVPIPVP | VYIPVPMHMY | ||||
| SQNIPVPTTV | PVPVPVPVFL | PAPLDSSEKI | PAAIEELKSK | VSSDALDTEL | ||||
| LTMTDMMSED | EGKTETTNIN | SVIIETDIIG | SDLLKNSDPE | TQSSMPDVPY | ||||
| EPDLDIEIDF | PRAAEELDME | NEFLLPPVFG | EEYEEQPRPR | SKKKGAKRKA | ||||
| VSGYQSHDDS | SDNSECSFPF | KYTYGVNAWK | HWVKTRQLDE | DLLVLDELKS | ||||
| SKSVKLKEDL | LSHTTAELNY | GLAHFVNEIR | RPNGENYAPD | SIYYLCLGIQ | ||||
| EYLCGSNRKD | NIFIDPGYQT | FEQELNKILR | SWQPSILPDG | SIFSRVEEDY | ||||
| LWRIKQLGSH | SPVALLNTLF | YFNTKYFGLK | TVEQHLRLSF | GTVFRHWKKN | ||||
| PLTMENKACL | RYQVSSLCGT | DNEDKITTGK | RKHEDDEPVF | EQIENTANPS | ||||
| RCPVKMFECY | LSKSPQNLNQ | RMDVFYLQPE | CSSSTDSPVW | YTSTSLDRNT | ||||
| LENMLVRVLL | VKDIYDKDNY | ELDEDTD |
- Simboli
Kloniranje i ekspresija
urediXiao i et al. (1998) identificirali su gen ZNF198 kao partnera za translokaciju gena receptora-1 za faktor rasta fibroblasta (FGFR1) u mijeloproliferativnom sindromu 8p11, poznatom i kao sindrom leukemija/limfom matičnih ćelija (SCLL) specifična translokacija hromosoma, t (8; 13) (p11; q11-12). Sekvenca njegove cDNK predviđala je 87,1-kD-ski protein sa četiri netipska cinkova prsta. Northern blot analiza otkrila je sveprisutnu ekspresiju transkripta od 4,5 kb, pri čemu većina tkiva također eksprimira transkripte od 7,5 i 10 kb.[10]
Smedley i dr. (1998) također su identificirali gen ZNF198, koji su nazvali RAMP, i otkrili da predviđeni protein pokazuje jaku homologiju s proizvodom gena DXS6673E (ZMYM3).[11]
Reiter et al. (1998) otkrili su da ZNF198 cijele dužine kodira izvedeni protein od 1.377 aminokiselina s izračunatom molekulskom masom od 155 kD. On ima značajnu homologiju sa proizvodima gena DXS6673E i KIAA0425. Poravnavanjem ova tri proteina otkriven je novi konzervirani motiv s cinkovim prstima, MYM domena, koji se ponavljao pet puta u svakom proteinu. ZNF198 takođe ima regiju bogatu prolinom, koja se nalazi C-terminalno do posljednjeg MYM domena. Kunapuli et al. (2006) primijetili su da ZNF198 pune dužine ima C-terminalni kiseli domen koji sadrži navodni signal jedarne lokalizacije.[12] Koristeći RT-PCR, Kulkarni et al. (1999) otkrili su nekoliko varijanti prerade ZNF198 koje su rezultat alternativnih promotora, preskakanja nekodirajućih egzona 2 i/ili 3 i alternativnog prerađivanja unutar egzona 4, koje smanjuje dužinu predviđenog proteina za 87 aminokiselina.[13]
Također pogledajte
urediReference
uredi- ^ a b c GRCh38: Ensembl release 89: ENSG00000121741 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021945 - 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.
- ^ Smedley D, Hamoudi R, Clark J, Warren W, Abdul-Rauf M, Somers G, Venter D, Fagan K, Cooper C, Shipley J (april 1998). "The t(8;13)(p11;q11-12) rearrangement associated with an atypical myeloproliferative disorder fuses the fibroblast growth factor receptor 1 gene to a novel gene RAMP". Human Molecular Genetics. 7 (4): 637–42. doi:10.1093/hmg/7.4.637. PMID 9499416.
- ^ Xiao S, Nalabolu SR, Aster JC, Ma J, Abruzzo L, Jaffe ES, Stone R, Weissman SM, Hudson TJ, Fletcher JA (januar 1998). "FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome". Nature Genetics. 18 (1): 84–7. doi:10.1038/ng0198-84. PMID 9425908.
- ^ "Entrez Gene: ZMYM2 zinc finger, MYM-type 2".
- ^ Kojima, K. K., Jurka, J. Crypton transposons: identification of new diverse families and ancient domestication events. Mobile DNA 2: 12, 2011. Note: Electronic Article. PubMed: 22011512
- ^ "UniProt, Q9UBW7". Pristupljeno 11. 9. 2017.
- ^ Xiao, S., Nalabolu, S. R., Aster, J. C., Ma, J., Abruzzo, L., Jaffe, E. S., Stone, R., Weissman, S. M., Hudson, T. J., Fletcher, J. A. FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome. Nature Genet. 18: 84-87, 1998. PubMed: 9425908
- ^ Smedley, D., Hamoudi, R., Clark, J., Warren, W., Abdul-Rauf, M., Somers, G., Venter, D., Fagan, K., Cooper, C., Shipley, J. The t(8;13)(p11;q11-12) rearrangement associated with an atypical myeloproliferative disorder fuses the fibroblast growth factor receptor 1 gene to a novel gene RAMP. Hum. Molec. Genet. 7: 637-642, 1998. PubMed: 9499416
- ^ Reiter, A., Sohal, J., Kulkarni, S., Chase, A., Macdonald, D. H. C., Aguiar, R. C. T., Goncalves, C., Hernandez, J. M., Jennings, B. A., Goldman, J. M., Cross, N. C. P. Consistent fusion of ZNF198 to the fibroblast growth factor receptor-1 in the t(8;13)(p11;q12) myeloproliferative syndrome. Blood 92: 1735-1742, 1998. PubMed: 9716603
- ^ Kulkarni, S., Reiter, A., Smedley, D., Goldman, J. M., Cross, N. C. P. The genomic structure of ZNF198 and location of breakpoints in the t(8;13) myeloproliferative syndrome. Genomics 55: 118-121, 1999. PubMed: 9889006
Dopunska literatura
uredi- Bonaldo MF, Lennon G, Soares MB (septembar 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
- Popovici C, Adélaïde J, Ollendorff V, Chaffanet M, Guasch G, Jacrot M, Leroux D, Birnbaum D, Pébusque MJ (maj 1998). "Fibroblast growth factor receptor 1 is fused to FIM in stem-cell myeloproliferative disorder with t(8;13)". Proceedings of the National Academy of Sciences of the United States of America. 95 (10): 5712–7. doi:10.1073/pnas.95.10.5712. PMC 20444. PMID 9576949.
- Still IH, Cowell JK (august 1998). "The t(8;13) atypical myeloproliferative disorder: further analysis of the ZNF198 gene and lack of evidence for multiple genes disrupted on chromosome 13". Blood. 92 (4): 1456–8. doi:10.1182/blood.V92.4.1456.splL3_1456_1458. PMID 9694738.
- Reiter A, Sohal J, Kulkarni S, Chase A, Macdonald DH, Aguiar RC, Gonçalves C, Hernandez JM, Jennings BA, Goldman JM, Cross NC (septembar 1998). "Consistent fusion of ZNF198 to the fibroblast growth factor receptor-1 in the t(8;13)(p11;q12) myeloproliferative syndrome". Blood. 92 (5): 1735–42. doi:10.1182/blood.V92.5.1735. PMID 9716603.
- Kulkarni S, Reiter A, Smedley D, Goldman JM, Cross NC (januar 1999). "The genomic structure of ZNF198 and location of breakpoints in the t(8;13) myeloproliferative syndrome". Genomics. 55 (1): 118–21. doi:10.1006/geno.1998.5634. PMID 9889006.
- Ollendorff V, Guasch G, Isnardon D, Galindo R, Birnbaum D, Pébusque MJ (septembar 1999). "Characterization of FIM-FGFR1, the fusion product of the myeloproliferative disorder-associated t(8;13) translocation". The Journal of Biological Chemistry. 274 (38): 26922–30. doi:10.1074/jbc.274.38.26922. PMID 10480903.
- Matsumoto K, Morita K, Takada S, Sakura T, Shiozaki H, Murakami H, Miyawaki S (decembar 1999). "A chronic myelogenous leukemia-like myeloproliferative disorder accompanied by T-cell lymphoblastic lymphoma with chromosome translocation t(8;13)(p11;q12): a Japanese case". International Journal of Hematology. 70 (4): 278–82. PMID 10643154.
- Hartley JL, Temple GF, Brasch MA (novembar 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
- Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (mart 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
- Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (septembar 2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Reports. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
- Hakimi MA, Dong Y, Lane WS, Speicher DW, Shiekhattar R (februar 2003). "A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes". The Journal of Biological Chemistry. 278 (9): 7234–9. doi:10.1074/jbc.M208992200. PMID 12493763.
- Baumann H, Kunapuli P, Tracy E, Cowell JK (maj 2003). "The oncogenic fusion protein-tyrosine kinase ZNF198/fibroblast growth factor receptor-1 has signaling function comparable with interleukin-6 cytokine receptors". The Journal of Biological Chemistry. 278 (18): 16198–208. doi:10.1074/jbc.M300018200. PMID 12594223.
- Kunapuli P, Somerville R, Still IH, Cowell JK (maj 2003). "ZNF198 protein, involved in rearrangement in myeloproliferative disease, forms complexes with the DNA repair-associated HHR6A/6B and RAD18 proteins". Oncogene. 22 (22): 3417–23. doi:10.1038/sj.onc.1206408. PMID 12776193.
- Warner DR, Roberts EA, Greene RM, Pisano MM (decembar 2003). "Identification of novel Smad binding proteins". Biochemical and Biophysical Research Communications. 312 (4): 1185–90. doi:10.1016/j.bbrc.2003.11.049. PMID 14651998.
- Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, Meil A, Wojcik J, Legrain P, Gauthier JM (juli 2004). "Functional proteomics mapping of a human signaling pathway". Genome Research. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
- Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP (august 2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.