SFMBT1

SFMBT1
Identifikatori
Aliasi	SFMBT1
Vanjski ID-jevi	OMIM: 607319 MGI: 1859609 HomoloGene: 9472 GeneCards: SFMBT1
Lokacija gena (čovjek)
Hrom.	Hromosom 3 (čovjek)
Kraj	53,046,750 bp
Lokacija gena (miš)
Hrom.	Hromosom 14 (miš)
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
	51460
	54650
	ENSG00000163935
	ENSMUSG00000006527
	Q9UHJ3
	Q9JMD1
	NM_001005158; NM_001005159; NM_016329
	NM_001166531; NM_001166532; NM_019460; NM_175254
	NP_057413
	NP_001160003; NP_001160004; NP_062333
	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.^[5]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 866 aminokiselina, а molekulska težina 98.141 Da.^[6]

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).

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000163935 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000006527 - 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.
^ "Entrez Gene: Scm-like with four mbt domains 1". Pristupljeno 22. 11. 2013.
^ "UniProt, Q9UHJ3" (jezik: engleski). Pristupljeno 5. 11. 2021.

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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000163935 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000006527 - Ensembl, maj 2017

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

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

[entrez-5] "Entrez Gene: Scm-like with four mbt domains 1". Pristupljeno 22. 11. 2013.

[UniProt-6] "UniProt, Q9UHJ3" (jezik: engleski). Pristupljeno 5. 11. 2021.

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SFMBT1

Aminokiselinska sekvenca

Funkcija

Reference

Dopunska literatura

€4.95