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
Dužina 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
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
Kloniranje i ekspresija
Xiao 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
Reference
- ^ 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
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- 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.
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