SFMBT1

SFMBT1
Identifikatori
Aliasi	SFMBT1
Vanjski ID-jevi	OMIM: 607319 MGI: 1859609 HomoloGene: 9472 GeneCards: SFMBT1
Lokacija gena (čovjek) Hrom. Hromosom 3 (čovjek) Bend 3p21.1 Početak 52,903,572 bp Kraj 53,046,750 bp
Lokacija gena (miš) Hrom. Hromosom 14 (miš) Bend 14 B|14 18.99 cM Početak 30,436,806 bp Kraj 30,544,678 bp
Ontologija gena Molekularna funkcija • GO:0001948, GO:0016582 vezivanje za proteine • GO:0001106 transcription corepressor activity • GO:0031493 histone binding Ćelijska komponenta • jedro • nukleoplazma Biološki proces • negative regulation of muscle organ development • Ćelijska diferencijacija • GO:0045996 negative regulation of transcription, DNA-templated • GO:0009373 regulation of transcription, DNA-templated • transcription, DNA-templated • Spermatogeneza • GO:0031497, GO:0006336, GO:0034724, GO:0001301, GO:0007580, GO:0034652, GO:0010847 chromatin organization Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	51460	54650
Ensembl	ENSG00000163935	ENSMUSG00000006527
UniProt	Q9UHJ3	Q9JMD1
RefSeq (mRNK)	NM_001005158 NM_001005159 NM_016329	NM_001166531 NM_001166532 NM_019460 NM_175254
RefSeq (bjelančevina)	NP_057413	NP_001160003 NP_001160004 NP_062333
Lokacija (UCSC)	Chr 3: 52.9 – 53.05 Mb	Chr 14: 30.44 – 30.54 Mb
PubMed pretraga
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Scm-liki protein 1 sa četiri domena mbt jest protein koji je kod ljudi kodiran genom SFMBT1 sa hromosoma 3.

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 866 aminokiselina, а molekulska težina 98.141 Da.

• 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
MNGEQQLDAD		AGSGMEEVEL		SWEDYLEETG		STAVPYGSFK		HVDTRLQNGF
APGMKLEVAV		RTDPETYWVA		TVITTCEQLL		LLRYDGYGED		RRADFWCDIR
KADLYPIGWC		EQNKKTLEAP		EGIRDKVSDW		DEFLRQTLIG		ACSPPVPLLE
GLRNGRNPLD		LIAPGSRLEC		QAFQDSLSTW		IVTVVENIGG		RLKLRYEGLE
SSDNYEHWLY		YLDPFLHHVG		WAAQQGYELQ		PPSAIRHLKN		EAEWQEILAK
VKEEEEEPLP		SYLFKDKQVI		GIHTFSVNMK		LEAVDPWSPF		GISPATVVKV
FDEKYFLVEM		DDLRPENHAR		RSFVCHADSP		GIFPVQWSLK		NGLHISPPPG
YPSQDFDWAD		YLKQCGAEAA		PQRCFPPLIS		EHEFKENMKL		EAVNPILPEE
VCVATITAVR		GSYLWLQLEG		SKKPIPECIV		SVESMDIFPL		GWCETNGHPL
STPRRARVYK		QRKIAVVQPE		KQVPSSRTVH		EGLRNQELNS		TESVMINGKY
CCPKIYFNHR		CFSGPYLNKG		RIAELPQCVG		PGNCVLVLRE		VLTLLINAAY
KPSRVLRELQ		LDKDSVWHGC		GEVLKAKYKG		KSYRATVEIV		KTADRVTEFC
RQTCIKLECC		PNLFGPRMVL		DKCSENCSVL		TKTKYTHYYG		KKKNKRIGRP
PGGHSNLACA		LKKASKRRKR		RKNVFVHKKK		RSSASVDNTP		AGSPQGSGGE
DEDDPDEGDD		DSLSEGSTSE		QQDELQEESE		MSEKKSCSSS		PTQSEISTSL
PPDRQRRKRE		LRTFSFSDDE		NKPPSPKEIR		IEVAERLHLD		SNPLKWSVAD
VVRFIRSTDC		APLARIFLDQ		EIDGQALLLL		TLPTVQECMD		LKLGPAIKLC
HHIERIKFAF		YEQFAN

Funkcija

Ovaj gen ima veliku sličnost sa genom Scm Drosophila (spolni češalj na srednjoj nozi). Kodira protein koji sadrži četiri ponavljajuća domena malignog tumoa mozga (mbt) i može biti uključen u prepoznavanje antigena (prema RefSeq, juni 2012).

Dopunska literatura

• Zhang, J.; Bonasio, R.; Strino, F.; Kluger, Y.; Holloway, J. K.; Modzelewski, A. J.; Cohen, P. E.; Reinberg, D. (2013). "SFMBT1 functions with LSD1 to regulate expression of canonical histone genes and chromatin-related factors". Genes & Development. 27 (7): 749–766. doi:10.1101/gad.210963.112. PMC 3639416. PMID 23592795.
• Köttgen, A.; Albrecht, E.; Teumer, A.; Vitart, V.; Krumsiek, J.; Hundertmark, C.; Pistis, G.; Ruggiero, D.; O'Seaghdha, C. M.; Haller, T.; Yang, Q.; Tanaka, T.; Johnson, A. D.; Kutalik, Z. N.; Smith, A. V.; Shi, J.; Struchalin, M.; Middelberg, R. P. S.; Brown, M. J.; Gaffo, A. L.; Pirastu, N.; Li, G.; Hayward, C.; Zemunik, T.; Huffman, J.; Yengo, L.; Zhao, J. H.; Demirkan, A.; Feitosa, M. F.; et al. (2012). "Genome-wide association analyses identify 18 new loci associated with serum urate concentrations". Nature Genetics. 45 (2): 145–154. doi:10.1038/ng.2500. PMC 3663712. PMID 23263486.
• Kato, T.; Sato, H.; Emi, M.; Seino, T.; Arawaka, S.; Iseki, C.; Takahashi, Y.; Wada, M.; Kawanami, T. (2011). "Segmental copy number loss of SFMBT1 gene in elderly individuals with ventriculomegaly: A community-based study". Internal Medicine (Tokyo, Japan). 50 (4): 297–303. doi:10.2169/internalmedicine.50.4505. PMID 21325761.
• Lin, S.; Shen, H.; Li, J. -L.; Tang, S.; Gu, Y.; Chen, Z.; Hu, C.; Rice, J. C.; Lu, J.; Wu, L. (2013). "Proteomic and Functional Analyses Reveal the Role of Chromatin Reader SFMBT1 in Regulating Epigenetic Silencing and the Myogenic Gene Program". Journal of Biological Chemistry. 288 (9): 6238–6247. doi:10.1074/jbc.M112.429605. PMC 3585059. PMID 23349461.
• Wu, S.; Trievel, R. C.; Rice, J. C. (2007). "Human SFMBT is a transcriptional repressor protein that selectively binds the N-terminal tail of histone H3". FEBS Letters. 581 (17): 3289–3296. doi:10.1016/j.febslet.2007.06.025. PMC 2045647. PMID 17599839.
• Yang, H. C.; Liang, Y. J.; Chen, J. W.; Chiang, K. M.; Chung, C. M.; Ho, H. Y.; Ting, C. T.; Lin, T. H.; Sheu, S. H.; Tsai, W. C.; Chen, J. H.; Leu, H. B.; Yin, W. H.; Chiu, T. Y.; Chern, C. I.; Lin, S. J.; Tomlinson, B.; Guo, Y.; Sham, P. C.; Cherny, S. S.; Lam, T. H.; Thomas, G. N.; Pan, W. H. (2012). Mariño-Ramírez, Leonardo (ured.). "Identification of IGF1, SLC4A4, WWOX, and SFMBT1 as Hypertension Susceptibility Genes in Han Chinese with a Genome-Wide Gene-Based Association Study". PLOS ONE. 7 (3): e32907. Bibcode:2012PLoSO...732907Y. doi:10.1371/journal.pone.0032907. PMC 3315540. PMID 22479346.
• Morel, S.; Lévy, F.; Burlet-Schiltz, O.; Brasseur, F.; Probst-Kepper, M.; Peitrequin, A. L.; Monsarrat, B.; Van Velthoven, R.; Cerottini, J. C.; Boon, T.; Gairin, J. E.; Van Den Eynde, B. J. (2000). "Processing of some antigens by the standard proteasome but not by the immunoproteasome results in poor presentation by dendritic cells". Immunity. 12 (1): 107–117. doi:10.1016/S1074-7613(00)80163-6. PMID 10661410.

Ovaj članak uključuje tekst iz Nacionalne medicinske biblioteke Sjedinjenih Država, koji je u javnom vlasništvu.