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Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 (SMARCE1), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_003079 Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 (SMARCE1), mRNA. GenEZ ORF Cloning In-stock $418.00 $369.00 10

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RefSeq Version NM_003079.4, 45827732
Length 2425 bp
Structure linear
Update Date 17-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 (SMARCE1), mRNA.
Product SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
Comment

Summary: The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008].

RefSeq NP_003070.3
CDS 125..1360
Misc Feature(1)113..115
Misc Feature(2)113..115
Misc Feature(3)332..517
Misc Feature(4)332..517
Misc Feature(5)order(332..337,341..346,353..358,365..367,377..379,
Misc Feature(6)<773..1024
Misc Feature(7)917..919
Exon (1)1..79
Gene:SMARCE1
Gene Synonym:BAF57
Exon (2)80..131
Gene:SMARCE1
Gene Synonym:BAF57
Exon (3)132..175
Gene:SMARCE1
Gene Synonym:BAF57
Exon (4)176..280
Gene:SMARCE1
Gene Synonym:BAF57
Exon (5)281..361
Gene:SMARCE1
Gene Synonym:BAF57
Exon (6)362..493
Gene:SMARCE1
Gene Synonym:BAF57
Exon (7)494..665
Gene:SMARCE1
Gene Synonym:BAF57
Exon (8)666..838
Gene:SMARCE1
Gene Synonym:BAF57
Exon (9)839..940
Gene:SMARCE1
Gene Synonym:BAF57
Exon (10)941..1151
Gene:SMARCE1
Gene Synonym:BAF57
Exon (11)1152..2425
Gene:SMARCE1
Gene Synonym:BAF57
Translation MSKRPSYAPPPTPAPATQMPSTPGFVGYNPYSHLAYNNYRLGGNPGTNSRVTASSGITIP KPPKPPDKPLMPYMRYSRKVWDQVKASNPDLKLWEIGKIIGGMWRDLTDEEKQEYLNEYE AEKIEYNESMKAYHNSPAYLAYINAKSRAEAALEEESRQRQSRMEKGEPYMSIQPAEDPD DYDDGFSMKHTATARFQRNHRLISEILSESVVPDVRSVVTTARMQVLKRQVQSLMVHQRK LEAELLQIEERHQEKKRKFLESTDSFNNELKRLCGLKVEVDMEKIAAEIAQAEEQARKRQ EEREKEAAEQAERSQSSIVPEEEQAANKGEEKKDDENIPMETEETHLEETTESQQNGEEG TSTPEDKESGQEGVDSMAEEGTSDSNTGSESNSATVEEPPTDPIPEDEKKE
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Position Chain Variation Link
complement(45)-dbSNP:
complement(45)-t, cdbSNP:141077617
complement(55..58)-gcag, ccdbSNP:386796993
complement(181)-dbSNP:
complement(181)-c, adbSNP:142279746
complement(259)-t, cdbSNP:148373393
260+a, gdbSNP:11548762
complement(298)-dbSNP:
complement(298)-t, cdbSNP:201976136
complement(307)-t, gdbSNP:12103928
complement(331)-t, cdbSNP:373563447
complement(341)-g, adbSNP:62066644
342+a, gdbSNP:387906857
complement(424)-dbSNP:
complement(424)-t, adbSNP:143363725
435+a, gdbSNP:397509407
complement(454)-t, gdbSNP:372964610
complement(475)-g, adbSNP:149613910
complement(566)-dbSNP:
complement(566)-g, adbSNP:147065057
complement(611)-g, adbSNP:190432371
complement(655)-t, cdbSNP:377424178
696..697+dbSNP:
696..697+, cdbSNP:397509408
complement(703)-g, adbSNP:201484943
717+c, tdbSNP:75329866
complement(766)-g, adbSNP:186493032
complement(767)-t, cdbSNP:376327613
complement(809)-g, adbSNP:141619224
complement(820)-t, cdbSNP:2293417
839+dbSNP:
839+c, tdbSNP:397509405
complement(886)-t, cdbSNP:374977780
complement(971)-dbSNP:
complement(971)-g, cdbSNP:147883949
complement(984)-g, cdbSNP:201158885
complement(1000)-t, cdbSNP:188037270
complement(1046)-t, cdbSNP:372988818
complement(1057)-g, adbSNP:141470385
complement(1062)-t, cdbSNP:201577008
complement(1078)-g, adbSNP:376628666
complement(1079)-t, cdbSNP:140414666
complement(1123)-t, cdbSNP:372423633
complement(1130)-t, cdbSNP:377136485
complement(1141)-t, cdbSNP:372446330
complement(1149)-g, cdbSNP:367908836
complement(1163)-dbSNP:
complement(1163)-g, adbSNP:267604854
complement(1191)-t, cdbSNP:151220618
complement(1203)-t, cdbSNP:142193069
complement(1225)-t, cdbSNP:148666451
complement(1234)-t, cdbSNP:146475742
complement(1240)-t, cdbSNP:370706896
complement(1246)-g, adbSNP:144057094
complement(1290)-g, adbSNP:376181802
complement(1297)-g, adbSNP:377096761
complement(1343)-c, adbSNP:139178605
complement(1355)-c, adbSNP:62622817
complement(1470)-g, adbSNP:757412
complement(1801)-t, cdbSNP:139568831
complement(1864)-g, adbSNP:113506872
complement(1871)-t, adbSNP:188405051
complement(1907)-g, adbSNP:372151208
complement(1932)-t, cdbSNP:150549976
complement(2102)-g, adbSNP:182837376
complement(2215)-t, cdbSNP:142876327
complement(2302)-t, cdbSNP:377752545
complement(2373)-t, cdbSNP:191521736
complement(2416)-, tdbSNP:397817802
Gene SymbolSMARCE1
Gene SynonymBAF57
Chromosome17
Locus Map17q21.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_003079 Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 (SMARCE1), mRNA. In-stock $418.00 $369.00 10
Title Aberrant BAF57 signaling facilitates prometastatic phenotypes .
Author Balasubramaniam S, Comstock CE, Ertel A, Jeong KW, Stallcup MR, Addya S, McCue PA, Ostrander WF Jr, Augello MA and Knudsen KE.
Journal Clin. Cancer Res. 19 (10), 2657-2667 (2013)
Title Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas .
Author Smith MJ, O'Sullivan J, Bhaskar SS, Hadfield KD, Poke G, Caird J, Sharif S, Eccles D, Fitzpatrick D, Rawluk D, du Plessis D, Newman
Journal Nat. Genet. 45 (3), 295-298 (2013)
Title Prognostic significance of BAF57 expression in patients with endometrial carcinoma .
Author Kagami S, Kurita T, Kawagoe T, Toki N, Matsuura Y, Hachisuga T, Matsuyama A, Hashimoto H, Izumi H and Kohno K.
Journal Histol. Histopathol. 27 (5), 593-599 (2012)
Title Identification and characterization of novel potentially oncogenic mutations in the human BAF57 gene in a breast cancer patient .
Author Villaronga MA, Lopez-Mateo I, Markert L, Espinosa E, Fresno Vara JA and Belandia B.
Journal Breast Cancer Res. Treat. 128 (3), 891-898 (2011)
Title Ubiquitin-dependent and ubiquitin-independent control of subunit stoichiometry in the SWI/SNF complex .
Author Keppler BR and Archer TK.
Journal J. Biol. Chem. 285 (46), 35665-35674 (2010)
Title Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits .
Author Phelan ML, Sif S, Narlikar GJ and Kingston RE.
Journal Mol. Cell 3 (2), 247-253 (1999)
Title Architectural DNA binding by a high-mobility-group/kinesin-like subunit in mammalian SWI/SNF-related complexes .
Author Wang W, Chi T, Xue Y, Zhou S, Kuo A and Crabtree GR.
Journal Proc. Natl. Acad. Sci. U.S.A. 95 (2), 492-498 (1998)
Title Purification and biochemical heterogeneity of the mammalian SWI-SNF complex .
Author Wang W, Cote J, Xue Y, Zhou S, Khavari PA, Biggar SR, Muchardt C, Kalpana GV, Goff SP, Yaniv M, Workman JL and Crabtree GR.
Journal EMBO J. 15 (19), 5370-5382 (1996)
Title Diversity and specialization of mammalian SWI/SNF complexes .
Author Wang W, Xue Y, Zhou S, Kuo A, Cairns BR and Crabtree GR.
Journal Genes Dev. 10 (17), 2117-2130 (1996)
Title Coffin-Siris Syndrome .
Author Schrier Vergano,S., Santen,G., Wieczorek,D., Wollnik,B., Matsumoto,N. and Deardorff,M.A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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