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Homo sapiens like-glycosyltransferase (LARGE), transcript variant 2, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_133642 Homo sapiens like-glycosyltransferase (LARGE), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $639.00 $590.00 15

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RefSeq Version NM_133642.3, 189083834
Length 4138 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens like-glycosyltransferase (LARGE), transcript variant 2, mRNA.
Product glycosyltransferase-like protein LARGE1
Comment

Summary: This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1.

RefSeq NP_598397.1
CDS 517..2787
Misc Feature(1)319..321
Misc Feature(2)547..609
Misc Feature(3)547..609
Misc Feature(4)928..1767
Misc Feature(5)order(943..951,958..963,1186..1188,1234..1236,1240..1248,
Misc Feature(6)973..1674
Misc Feature(7)order(1240..1242,1246..1248,1654..1656)
Misc Feature(8)1933..2745
Exon (1)1..434
Gene:LARGE
Gene Synonym:MDC1D; MDDGA6; MDDGB6
Exon (2)435..622
Gene:LARGE
Gene Synonym:MDC1D; MDDGA6; MDDGB6
Exon (3)623..924
Gene:LARGE
Gene Synonym:MDC1D; MDDGA6; MDDGB6
Exon (4)925..1007
Gene:LARGE
Gene Synonym:MDC1D; MDDGA6; MDDGB6
Exon (5)1008..1131
Gene:LARGE
Gene Synonym:MDC1D; MDDGA6; MDDGB6
Exon (6)1132..1303
Gene:LARGE
Gene Synonym:MDC1D; MDDGA6; MDDGB6
Exon (7)1304..1408
Gene:LARGE
Gene Synonym:MDC1D; MDDGA6; MDDGB6
Exon (8)1409..1521
Gene:LARGE
Gene Synonym:MDC1D; MDDGA6; MDDGB6
Exon (9)1522..1647
Gene:LARGE
Gene Synonym:MDC1D; MDDGA6; MDDGB6
Exon (10)1648..1803
Gene:LARGE
Gene Synonym:MDC1D; MDDGA6; MDDGB6
Exon (11)1804..1967
Gene:LARGE
Gene Synonym:MDC1D; MDDGA6; MDDGB6
Exon (12)1968..2246
Gene:LARGE
Gene Synonym:MDC1D; MDDGA6; MDDGB6
Exon (13)2247..2393
Gene:LARGE
Gene Synonym:MDC1D; MDDGA6; MDDGB6
Exon (14)2394..2589
Gene:LARGE
Gene Synonym:MDC1D; MDDGA6; MDDGB6
Exon (15)2590..4138
Gene:LARGE
Gene Synonym:MDC1D; MDDGA6; MDDGB6
Translation MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQR ERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVA GNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQ ILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIV LDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVI LLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQL SDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCP SEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQL SMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMSRHNVGYHIVYKEGQF YPVNLLRNVAMKHISTPYMFLSDIDFLPMYGLYEYLRKSVIQLDLANTKKAMIVPAFETL RYRLSFPKSKAELLSMLDMGTLFTFRYHVWTKGHAPTNFAKWRTATTPYRVEWEADFEPY VVVRRDCPEYDRRFVGFGWNKVAHIMELDVQEYEFIVLPNAYMIHMPHAPSFDITKFRSN KQYRICLKTLKEEFQQDMSRRYGFAALKYLTAENNS
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Position Chain Variation Link
complement(120)-dbSNP:
complement(120)-g, cdbSNP:114106875
complement(246)-t, cdbSNP:185068235
complement(340)-t, cdbSNP:3210587
complement(368)-g, cdbSNP:143403352
complement(454)-dbSNP:
complement(454)-g, adbSNP:16992986
complement(484)-t, cdbSNP:201533383
complement(486)-t, cdbSNP:117199378
complement(597)-t, adbSNP:145861048
complement(630)-dbSNP:
complement(630)-t, cdbSNP:130760
complement(633)-g, adbSNP:140622529
complement(634)-g, cdbSNP:188675457
complement(635)-g, adbSNP:148383806
complement(637..638)-, gdbSNP:130759
complement(643..644)-, gdbSNP:135314
complement(647)-g, adbSNP:143437080
complement(658)-t, gdbSNP:115801300
complement(672)-g, adbSNP:148834527
complement(678..679)-, tdbSNP:135313
complement(679)-t, cdbSNP:34642406
complement(681)-g, cdbSNP:63446460
complement(682)-, cdbSNP:130758
complement(694)-g, adbSNP:142135345
complement(695)-t, cdbSNP:147620818
complement(717)-c, adbSNP:135312
complement(718)-g, cdbSNP:470035
complement(719)-g, cdbSNP:135311
complement(726)-g, adbSNP:145048151
complement(727)-t, cdbSNP:116164106
complement(768)-g, adbSNP:56202589
complement(782)-t, cdbSNP:142272515
complement(817)-t, adbSNP:115008187
complement(819)-g, adbSNP:199907114
complement(825)-g, adbSNP:59349720
complement(850)-t, cdbSNP:146078928
complement(867)-g, adbSNP:201273864
complement(875)-g, adbSNP:114979043
complement(888)-g, adbSNP:142866735
complement(901)-t, gdbSNP:139662199
complement(906)-t, cdbSNP:114558328
complement(907)-t, cdbSNP:56239539
complement(933)-dbSNP:
complement(933)-g, adbSNP:115575249
complement(940)-t, cdbSNP:199906790
complement(948)-g, adbSNP:201977889
complement(951)-t, cdbSNP:86487
complement(975)-g, adbSNP:199822331
complement(976)-t, cdbSNP:138938225
complement(993)-g, adbSNP:150283131
complement(1021)-dbSNP:
complement(1021)-g, adbSNP:141125780
complement(1067)-g, adbSNP:138676820
complement(1068)-t, cdbSNP:8142483
complement(1092)-g, adbSNP:36002910
complement(1100)-t, cdbSNP:147597912
complement(1167)-dbSNP:
complement(1167)-t, adbSNP:143547253
complement(1180)-g, adbSNP:148889570
complement(1216)-t, cdbSNP:115349386
complement(1224)-t, cdbSNP:202028671
complement(1312)-dbSNP:
complement(1312)-g, cdbSNP:145594612
complement(1373)-t, cdbSNP:200035534
complement(1435)-dbSNP:
complement(1435)-g, adbSNP:199543802
complement(1457)-t, adbSNP:149747266
complement(1493)-t, cdbSNP:200265304
1508+c, tdbSNP:267607210
complement(1524)-dbSNP:
complement(1524)-g, adbSNP:115076367
complement(1557)-g, cdbSNP:191426678
complement(1587)-g, adbSNP:146552975
complement(1608)-g, adbSNP:144216539
complement(1629)-t, cdbSNP:202030960
complement(1745)-dbSNP:
complement(1745)-t, cdbSNP:199912424
complement(1757)-t, cdbSNP:200603479
complement(1856)-dbSNP:
complement(1856)-t, cdbSNP:139603473
complement(1905)-g, adbSNP:115686643
complement(1936)-t, cdbSNP:150861748
1999+dbSNP:
1999+c, tdbSNP:267607209
complement(2041)-g, adbSNP:121908675
complement(2064)-g, adbSNP:34292743
complement(2065)-t, cdbSNP:148771159
complement(2094)-g, adbSNP:200229228
complement(2100)-g, adbSNP:113492643
complement(2101)-t, cdbSNP:146923365
complement(2115)-g, adbSNP:12627793
complement(2160)-g, adbSNP:113253213
complement(2161)-t, cdbSNP:149646216
complement(2172)-t, g, cdbSNP:138573955
complement(2191)-t, cdbSNP:191368661
complement(2262)-dbSNP:
complement(2262)-t, cdbSNP:114161191
complement(2304)-t, cdbSNP:74550830
complement(2308)-t, cdbSNP:144045461
complement(2343)-t, cdbSNP:11913417
complement(2400)-dbSNP:
complement(2400)-g, adbSNP:78223631
complement(2409)-t, cdbSNP:138011042
complement(2419)-t, cdbSNP:150325234
complement(2434)-t, cdbSNP:140257955
complement(2444)-t, cdbSNP:151199006
complement(2465)-t, cdbSNP:73399520
complement(2473)-g, adbSNP:112929646
complement(2478)-t, cdbSNP:141089495
complement(2510)-g, adbSNP:1046166
complement(2514)-g, cdbSNP:144197077
complement(2517)-g, adbSNP:116734942
complement(2531)-t, cdbSNP:145736519
complement(2603)-g, adbSNP:200212868
complement(2615)-t, cdbSNP:201642924
complement(2616)-g, adbSNP:17722172
complement(2679)-t, cdbSNP:116213032
complement(2771)-g, cdbSNP:200024875
complement(2772)-g, adbSNP:114246562
complement(2773)-t, cdbSNP:139853494
complement(2784)-g, cdbSNP:150661466
complement(2888)-t, cdbSNP:191366574
complement(2941)-t, gdbSNP:73399512
complement(2994)-t, cdbSNP:16992036
complement(3171)-t, cdbSNP:187116095
complement(3181)-g, adbSNP:139946241
complement(3218)-g, adbSNP:182883726
complement(3247)-g, adbSNP:190667420
complement(3249)-g, adbSNP:200125816
complement(3419..3420)-, aaacdbSNP:67624708
complement(3420..3421)-, aaacdbSNP:112599126
complement(3527)-t, cdbSNP:116335813
complement(3583)-g, adbSNP:144150303
complement(3611..3612)-, tadbSNP:140177888
complement(3636)-g, adbSNP:149508241
complement(3643)-t, cdbSNP:77663505
complement(3648)-g, adbSNP:186109608
complement(3659)-t, cdbSNP:182417817
complement(3708)-g, cdbSNP:16992034
complement(3847)-t, cdbSNP:112016381
complement(3943)-c, adbSNP:1046181
complement(3988)-t, cdbSNP:11544101
complement(4022)-g, adbSNP:1801820
Gene SymbolLARGE
Gene SynonymMDC1D; MDDGA6; MDDGB6
Chromosome22
Locus Map22q12.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_004737 Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA. In-stock $639.00 $590.00 15
NM_133642 Homo sapiens like-glycosyltransferase (LARGE), transcript variant 2, mRNA. In-stock $639.00 $590.00 15
Title Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE .
Author Inamori,K., Yoshida-Moriguchi,T., Hara,Y., Anderson,M.E., Yu,L. and Campbell,K.P.
Journal Science 335 (6064), 93-96 (2012)
Title Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women .
Author Fox,C.S., Liu,Y., White,C.C., Feitosa,M., Smith,A.V., Heard-Costa,N., Lohman,K., Johnson,A.D., Foster,M.C., Greenawalt,D.M., Griffin,P., Ding,J., Newman,A.B., Tylavsky,F., Miljkovic,I., Kritchevsky,S.B., Launer,L., Garcia,M., Eiriksdottir,G., Carr,J.J., Gudnason,V., Harris,T.B., Cupples,L.A. and Borecki,I.B.
Journal PLoS Genet. 8 (5), E1002695 (2012)
Title Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies .
Author Vuillaumier-Barrot,S., Bouchet-Seraphin,C., Chelbi,M., Eude-Caye,A., Charluteau,E., Besson,C., Quentin,S., Devisme,L., Le Bizec,C., Landrieu,P., Goldenberg,A., Maincent,K., Loget,P., Boute,O., Gilbert-Dussardier,B., Encha-Razavi,F., Gonzales,M., Grandchamp,B. and Seta,N.
Journal Neuromuscul. Disord. 21 (11), 782-790 (2011)
Title Like-acetylglucosaminyltransferase (LARGE)-dependent modification of dystroglycan at Thr-317/319 is required for laminin binding and arenavirus infection .
Author Hara,Y., Kanagawa,M., Kunz,S., Yoshida-Moriguchi,T., Satz,J.S., Kobayashi,Y.M., Zhu,Z., Burden,S.J., Oldstone,M.B. and Campbell,K.P.
Journal Proc. Natl. Acad. Sci. U.S.A. 108 (42), 17426-17431 (2011)
Title Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene .
Author Clarke,N.F., Maugenre,S., Vandebrouck,A., Urtizberea,J.A., Willer,T., Peat,R.A., Gray,F., Bouchet,C., Manya,H., Vuillaumier-Barrot,S., Endo,T., Chouery,E., Campbell,K.P., Megarbane,A. and Guicheney,P.
Journal Eur. J. Hum. Genet. 19 (4), 452-457 (2011)
Title LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies .
Author Barresi,R., Michele,D.E., Kanagawa,M., Harper,H.A., Dovico,S.A., Satz,J.S., Moore,S.A., Zhang,W., Schachter,H., Dumanski,J.P., Cohn,R.D., Nishino,I. and Campbell,K.P.
Journal Nat. Med. 10 (7), 696-703 (2004)
Title Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan .
Author Longman,C., Brockington,M., Torelli,S., Jimenez-Mallebrera,C., Kennedy,C., Khalil,N., Feng,L., Saran,R.K., Voit,T., Merlini,L., Sewry,C.A., Brown,S.C. and Muntoni,F.
Journal Hum. Mol. Genet. 12 (21), 2853-2861 (2003)
Title Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies .
Author Michele,D.E., Barresi,R., Kanagawa,M., Saito,F., Cohn,R.D., Satz,J.S., Dollar,J., Nishino,I., Kelley,R.I., Somer,H., Straub,V., Mathews,K.D., Moore,S.A. and Campbell,K.P.
Journal Nature 418 (6896), 417-422 (2002)
Title The DNA sequence of human chromosome 22 .
Author Dunham,I., Shimizu,N., Roe,B.A., Chissoe,S., Hunt,A.R., Collins,J.E., Bruskiewich,R., Beare,D.M., Clamp,M., Smink,L.J., Ainscough,R., Almeida,J.P., Babbage,A., Bagguley,C., Bailey,J., Barlow,K., Bates,K.N., Beasley,O., Bird,C.P., Blakey,S., Bridgeman,A.M., Buck,D., Burgess,J., Burrill,W.D., O'Brien,K.P. et al.
Journal Nature 402 (6761), 489-495 (1999)
Title The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family .
Author Peyrard,M., Seroussi,E., Sandberg-Nordqvist,A.C., Xie,Y.G., Han,F.Y., Fransson,I., Collins,J., Dunham,I., Kost-Alimova,M., Imreh,S. and Dumanski,J.P.
Journal Proc. Natl. Acad. Sci. U.S.A. 96 (2), 598-603 (1999)


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