MBNL2
Sljepomišićnoliki protein 2 ili protein 2 sličan slijepom mišiću je protein koji je kod ljudi kodiran genom MBNL2, sa hromosoma13, sekvenca 13q32.1.[5][6]
Ovaj gen kodira protein cinkovog prsta tipa C3H, koji je sličan proteinu slijepog mišića Drosophila melanogaster. Kod Drosophila gen je potreban za diferencijaciju fotoreceptora. Opisano je nekoliko alternativno prerađenih varijanti transkripta, ali su samo neke sa određenom punom dužinom.[6]
Aminokiselinska sekvenca
[uredi | uredi izvor]Dužina polipeptidnog lanca je 373 aminokiseline, a molekulska težina 40.518 Da.[7]
10 | 20 | 30 | 40 | 50 | ||||
---|---|---|---|---|---|---|---|---|
MALNVAPVRD | TKWLTLEVCR | QFQRGTCSRS | DEECKFAHPP | KSCQVENGRV | ||||
IACFDSLKGR | CSRENCKYLH | PPTHLKTQLE | INGRNNLIQQ | KTAAAMLAQQ | ||||
MQFMFPGTPL | HPVPTFPVGP | AIGTNTAISF | APYLAPVTPG | VGLVPTEILP | ||||
TTPVIVPGSP | PVTVPGSTAT | QKLLRTDKLE | VCREFQRGNC | ARGETDCRFA | ||||
HPADSTMIDT | SDNTVTVCMD | YIKGRCMREK | CKYFHPPAHL | QAKIKAAQHQ | ||||
ANQAAVAAQA | AAAAATVMAF | PPGALHPLPK | RQALEKSNGT | SAVFNPSVLH | ||||
YQQALTSAQL | QQHAAFIPTG | SVLCMTPATS | IDNSEIISRN | GMECQESALR | ||||
ITKHCYCTYY | PVSSSIELPQ | TAC |
- 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
Reference
[uredi | uredi izvor]- ^ a b c GRCh38: Ensembl release 89: ENSG00000139793 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022139 - 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.
- ^ Fardaei M, Rogers MT, Thorpe HM, Larkin K, Hamshere MG, Harper PS, Brook JD (Apr 2002). "Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells". Hum Mol Genet. 11 (7): 805–14. doi:10.1093/hmg/11.7.805. PMID 11929853.
- ^ a b "Entrez Gene: MBNL2 muscleblind-like 2 (Drosophila)".
- ^ "UniProt, Q5VZF2". Pristupljeno 11. 9. 2017.
Dopunska literatura
[uredi | uredi izvor]- Adereth Y, Dammai V, Kose N, et al. (2006). "RNA-dependent integrin α3 protein localization regulated by the Muscleblind-like protein MLP1". Nat. Cell Biol. 7 (12): 1240–7. doi:10.1038/ncb1335. PMC 2365307. PMID 16273094.
- 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.
- Ho TH, Charlet-B N, Poulos MG, et al. (2005). "Muscleblind proteins regulate alternative splicing". EMBO J. 23 (15): 3103–12. doi:10.1038/sj.emboj.7600300. PMC 514918. PMID 15257297.
- Dunham A, Matthews LH, Burton J, et al. (2004). "The DNA sequence and analysis of human chromosome 13". Nature. 428 (6982): 522–8. doi:10.1038/nature02379. PMC 2665288. PMID 15057823.
- 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.
- Christian SL, McDonough J, Liu Cy CY, et al. (2002). "An evaluation of the assembly of an approximately 15-Mb region on human chromosome 13q32-q33 linked to bipolar disorder and schizophrenia". Genomics. 79 (5): 635–56. doi:10.1006/geno.2002.6765. PMID 11991713.
Vanjski linkovi
[uredi | uredi izvor]- MBNL2 lokacija ljudskog genoma UCSC Genome Browser.
- MBNL2 human gene details in the UCSC Genome Browser.