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Homo sapiens SIX homeobox 1 (SIX1), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_005982 Homo sapiens SIX homeobox 1 (SIX1), mRNA. GenEZ ORF Cloning On-demand $449.00 14

*Business Day

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RefSeq Version NM_005982.3, 186928837
Length 2687 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens SIX homeobox 1 (SIX1), mRNA.
Product homeobox protein SIX1
Comment

Summary: The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008].


Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments.

RefSeq NP_005973.1
CDS 249..1103
Misc Feature(1)147..149
Misc Feature(2)639..788
Misc Feature(3)639..788
Misc Feature(4)order(639..641,690..692,708..710,747..749,753..758,
Misc Feature(5)order(756..758,765..770,777..779)
Exon (1)1..808
Gene:SIX1
Gene Synonym:BOS3; DFNA23; TIP39
Exon (2)809..2687
Gene:SIX1
Gene Synonym:BOS3; DFNA23; TIP39
Translation MSMLPSFGFTQEQVACVCEVLQQGGNLERLGRFLWSLPACDHLHKNESVLKAKAVVAFHR GNFRELYKILESHQFSPHNHPKLQQLWLKAHYVEAEKLRGRPLGAVGKYRVRRKFPLPRT IWDGEETSYCFKEKSRGVLREWYAHNPYPSPREKRELAEATGLTTTQVSNWFKNRRQRDR AAEAKERENTENNNSSSNKQNQLSPLEGGKPLMSSSEEEFSPPQSPDQNSVLLLQGNMGH ARSSNYSLPGLTASQPSHGLQTHQHQLQDSLLGPLTSSLVDLGS
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Position Chain Variation Link
complement(65)-dbSNP:
complement(65)-t, gdbSNP:187402923
complement(112)-g, adbSNP:139621918
complement(225)-g, adbSNP:201700039
complement(332)-g, cdbSNP:146357380
complement(380)-g, cdbSNP:149166341
complement(410)-t, cdbSNP:150550985
complement(532)-g, adbSNP:200835641
complement(543)-g, adbSNP:17850414
complement(554)-g, adbSNP:149934523
complement(576)-t, cdbSNP:80356459
complement(578)-t, cdbSNP:73309461
complement(612)-t, adbSNP:121909770
complement(634)-g, adbSNP:104894478
complement(645..647)-, gagdbSNP:80356460
complement(650)-t, cdbSNP:151189392
complement(722)-g, adbSNP:199743522
complement(742..743)-, gdbSNP:34585587
complement(742)-g, adbSNP:143516729
complement(771)-t, gdbSNP:139966458
complement(797)-t, cdbSNP:145953540
complement(826)-dbSNP:
complement(826)-t, adbSNP:142301715
complement(848)-t, cdbSNP:61515165
complement(863)-c, adbSNP:148433316
complement(897)-t, cdbSNP:146129487
complement(927)-c, adbSNP:144481204
complement(929)-t, gdbSNP:149265761
complement(980)-t, gdbSNP:202018835
complement(1002)-t, cdbSNP:200205240
complement(1059)-g, adbSNP:199522850
complement(1083)-g, adbSNP:12101095
complement(1105)-c, adbSNP:138292017
complement(1247)-t, cdbSNP:113680815
complement(1349)-t, cdbSNP:61991660
complement(1352)-, t, ttttdbSNP:60585662
complement(1352)-t, cdbSNP:35069179
complement(1368)-, tdbSNP:112733948
complement(1368)-t, gdbSNP:80194537
complement(1381)-t, cdbSNP:185694350
complement(1400)-c, adbSNP:147081368
complement(1437)-g, cdbSNP:10144415
complement(1468)-t, adbSNP:182923762
complement(1506)-g, adbSNP:191393983
complement(1507)-t, cdbSNP:76116881
complement(1546)-t, cdbSNP:186530769
complement(1592)-t, cdbSNP:57517528
complement(1705)-g, cdbSNP:78909843
complement(1762)-g, adbSNP:180814298
complement(1869)-t, adbSNP:63554860
complement(1869)-, adbSNP:33943216
complement(1870..1871)-, adbSNP:199935032
complement(1872)-, tdbSNP:201192478
complement(1942)-g, cdbSNP:189312189
complement(2111)-, tdbSNP:148821608
complement(2147)-t, gdbSNP:3742637
complement(2195)-t, gdbSNP:186149844
complement(2223)-g, adbSNP:3742638
complement(2318)-g, adbSNP:181833190
complement(2373..2374)-, atdbSNP:3832952
complement(2479)-g, adbSNP:137994957
complement(2581)-g, cdbSNP:146967331
complement(2599)-g, adbSNP:61993831
complement(2626)-g, adbSNP:140088005
Gene SymbolSIX1
Gene SynonymBOS3; DFNA23; TIP39
Chromosome14
Locus Map14q23.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_005982 Homo sapiens SIX homeobox 1 (SIX1), mRNA. On-demand $449.00 14
Title Genetic investigation into the endophenotypic status of central corneal thickness and optic disc parameters in relation to open-angle glaucoma .
Author Dimasi,D.P., Burdon,K.P., Hewitt,A.W., Fitzgerald,J., Wang,J.J., Healey,P.R., Mitchell,P., Mackey,D.A. and Craig,J.E.
Journal Am. J. Ophthalmol. 154 (5), 833-842 (2012)
Title A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma .
Author Osman,W., Low,S.K., Takahashi,A., Kubo,M. and Nakamura,Y.
Journal Hum. Mol. Genet. 21 (12), 2836-2842 (2012)
Title SIX1 induces lymphangiogenesis and metastasis via upregulation of VEGF-C in mouse models of breast cancer .
Author Wang,C.A., Jedlicka,P., Patrick,A.N., Micalizzi,D.S., Lemmer,K.C., Deitsch,E., Casas-Selves,M., Harrell,J.C. and Ford,H.L.
Journal J. Clin. Invest. 122 (5), 1895-1906 (2012)
Title Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome .
Author Wang,S.H., Wu,C.C., Lu,Y.C., Lin,Y.H., Su,Y.N., Hwu,W.L., Yu,I.S. and Hsu,C.J.
Journal Laryngoscope 122 (5), 1130-1136 (2012)
Title Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma .
Author Wiggs,J.L., Yaspan,B.L., Hauser,M.A., Kang,J.H., Allingham,R.R., Olson,L.M., Abdrabou,W., Fan,B.J., Wang,D.Y., Brodeur,W., Budenz,D.L., Caprioli,J., Crenshaw,A., Crooks,K., Delbono,E., Doheny,K.F., Friedman,D.S., Gaasterland,D., Gaasterland,T., Laurie,C., Lee,R.K., Lichter,P.R., Loomis,S., Liu,Y., Medeiros,F.A., McCarty,C., Mirel,D., Moroi,S.E., Musch,D.C., Realini,A., Rozsa,F.W., Schuman,J.S., Scott,K., Singh,K., Stein,J.D., Trager,E.H., Vanveldhuisen,P., Vollrath,D., Wollstein,G., Yoneyama,S., Zhang,K., Weinreb,R.N., Ernst,J., Kellis,M., Masuda,T., Zack,D., Richards,J.E., Pericak-Vance,M., Pasquale,L.R. and Haines,J.L.
Journal PLoS Genet. 8 (4), E1002654 (2012)
Title Cell cycle-regulated phosphorylation of the human SIX1 homeodomain protein .
Author Ford,H.L., Landesman-Bollag,E., Dacwag,C.S., Stukenberg,P.T., Pardee,A.B. and Seldin,D.C.
Journal J. Biol. Chem. 275 (29), 22245-22254 (2000)
Title A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred .
Author Salam,A.A., Hafner,F.M., Linder,T.E., Spillmann,T., Schinzel,A.A. and Leal,S.M.
Journal Am. J. Hum. Genet. 66 (6), 1984-1988 (2000)
Title Abrogation of the G2 cell cycle checkpoint associated with overexpression of HSIX1: a possible mechanism of breast carcinogenesis .
Author Ford,H.L., Kabingu,E.N., Bump,E.A., Mutter,G.L. and Pardee,A.B.
Journal Proc. Natl. Acad. Sci. U.S.A. 95 (21), 12608-12613 (1998)
Title Cloning of the human SIX1 gene and its assignment to chromosome 14 .
Author Boucher,C.A., Carey,N., Edwards,Y.H., Siciliano,M.J. and Johnson,K.J.
Journal Genomics 33 (1), 140-142 (1996)
Title Homeobox genes and connective tissue patterning .
Author Oliver,G., Wehr,R., Jenkins,N.A., Copeland,N.G., Cheyette,B.N., Hartenstein,V., Zipursky,S.L. and Gruss,P.
Journal Development 121 (3), 693-705 (1995)


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