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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 19-JUN-2014
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)922..>1674
Misc Feature(5)928..1767
Misc Feature(6)order(943..951,958..963,1186..1188,1234..1236,1240..1248,
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
340+c, tdbSNP:3210587
complement(368)-g, cdbSNP:143403352
complement(420)-t, cdbSNP:374159324
complement(421)-t, gdbSNP:372798550
complement(454)-dbSNP:
complement(454)-g, adbSNP:16992986
complement(482)-g, adbSNP:374685017
complement(484)-t, cdbSNP:201533383
complement(486)-t, cdbSNP:117199378
complement(490)-c, adbSNP:372964353
complement(541)-g, adbSNP:369251728
complement(597)-t, adbSNP:145861048
complement(615)-g, adbSNP:377353667
complement(630)-dbSNP:
complement(630)-t, cdbSNP:130760
complement(633)-g, adbSNP:140622529
complement(634)-t, 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(677..678)-, tdbSNP:135313
complement(679)-t, cdbSNP:34642406
complement(681)-g, cdbSNP:63446460
complement(681)-, 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(738)-c, adbSNP:373261094
767+c, gdbSNP:398124184
complement(768)-g, adbSNP:56202589
complement(775)-t, gdbSNP:373853930
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
951+c, tdbSNP: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(1044)-g, adbSNP:375909409
complement(1049)-g, adbSNP:377460238
complement(1051)-t, cdbSNP:370128137
complement(1067)-g, adbSNP:138676820
complement(1068)-t, cdbSNP:8142483
complement(1092)-g, adbSNP:36002910
complement(1100)-t, cdbSNP:147597912
complement(1105)-t, cdbSNP:371096004
complement(1167)-dbSNP:
complement(1167)-t, adbSNP:143547253
complement(1180)-g, adbSNP:148889570
complement(1216)-t, cdbSNP:115349386
complement(1219)-g, adbSNP:376057149
complement(1224)-t, cdbSNP:202028671
complement(1312)-dbSNP:
complement(1312)-g, cdbSNP:145594612
complement(1320)-t, gdbSNP:369673305
complement(1373)-t, cdbSNP:200035534
complement(1435)-dbSNP:
complement(1435)-g, adbSNP:199543802
complement(1457)-t, adbSNP:149747266
complement(1474)-c, adbSNP:374774937
complement(1493)-t, cdbSNP:200265304
1508+c, tdbSNP:267607210
complement(1524)-dbSNP:
complement(1524)-g, adbSNP:115076367
complement(1557)-g, cdbSNP:191426678
complement(1572)-t, gdbSNP:369877399
complement(1587)-g, adbSNP:146552975
complement(1608)-g, adbSNP:144216539
1618+c, tdbSNP:398124181
complement(1629)-t, cdbSNP:202030960
1632+c, tdbSNP:398124182
complement(1711)-dbSNP:
complement(1711)-t, gdbSNP:371613936
complement(1731)-t, cdbSNP:368009890
complement(1745)-t, cdbSNP:199912424
complement(1757)-t, cdbSNP:200603479
complement(1793)-t, gdbSNP:369552267
complement(1856)-dbSNP:
complement(1856)-t, cdbSNP:139603473
complement(1865)-t, cdbSNP:371071263
complement(1905)-g, adbSNP:115686643
complement(1929)-t, gdbSNP:376160270
complement(1933)-g, cdbSNP:373143650
complement(1935)-g, adbSNP:370668049
complement(1936)-t, cdbSNP:150861748
complement(1942)-t, gdbSNP:369168322
1999+dbSNP:
1999+c, tdbSNP:267607209
2041+a, gdbSNP:121908675
complement(2060)-t, cdbSNP:368030516
complement(2064)-g, adbSNP:34292743
complement(2064)-g, adbSNP:386438536
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(2127)-t, cdbSNP:372629986
complement(2139)-g, adbSNP:370896246
complement(2160)-g, adbSNP:113253213
complement(2161)-t, cdbSNP:149646216
complement(2172)-t, g, cdbSNP:138573955
complement(2191)-t, cdbSNP:191368661
complement(2193)-t, cdbSNP:376455063
complement(2239)-t, adbSNP:374257204
complement(2262)-dbSNP:
complement(2262)-t, cdbSNP:114161191
complement(2265)-g, adbSNP:373233680
complement(2304)-t, cdbSNP:74550830
complement(2307)-g, adbSNP:369773678
complement(2308)-t, cdbSNP:144045461
complement(2312)-g, adbSNP:377302565
complement(2343)-t, cdbSNP:11913417
complement(2400)-dbSNP:
complement(2400)-g, adbSNP:78223631
complement(2408)-g, adbSNP:368043810
complement(2409)-t, cdbSNP:138011042
complement(2419)-t, cdbSNP:150325234
complement(2434)-t, cdbSNP:140257955
complement(2444)-t, cdbSNP:151199006
complement(2456)-g, adbSNP:370700187
complement(2465)-t, cdbSNP:73399520
complement(2473)-g, adbSNP:112929646
complement(2478)-t, cdbSNP:141089495
complement(2481)-g, adbSNP:368632863
2510+a, gdbSNP:1046166
complement(2514)-g, cdbSNP:144197077
complement(2517)-g, adbSNP:116734942
complement(2520)-t, cdbSNP:368231947
complement(2526)-g, adbSNP:374331968
complement(2531)-t, cdbSNP:145736519
complement(2575)-t, cdbSNP:370476540
complement(2603)-g, adbSNP:200212868
complement(2615)-t, cdbSNP:201642924
complement(2616)-g, adbSNP:17722172
complement(2679)-t, cdbSNP:116213032
complement(2687)-t, cdbSNP:376907568
complement(2725)-t, cdbSNP:267606234
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(3413..3414)-, caaadbSNP:374434741
complement(3420..3421)-, aaacdbSNP:112599126
complement(3426)-c, adbSNP:373361875
complement(3527)-t, cdbSNP:116335813
complement(3583)-g, adbSNP:144150303
complement(3611..3612)-, tadbSNP:140177888
3636+a, gdbSNP:149508241
complement(3643)-t, cdbSNP:77663505
complement(3648)-g, adbSNP:186109608
complement(3656)-g, adbSNP:373197817
complement(3659)-t, cdbSNP:182417817
complement(3708)-g, cdbSNP:16992034
complement(3847)-t, cdbSNP:112016381
3943+a, cdbSNP:1046181
complement(3943)-t, gdbSNP:386513103
complement(3960)-t, cdbSNP:376693550
complement(3988)-t, cdbSNP:11544101
4022+a, gdbSNP:1801820
complement(4094)-t, cdbSNP:372675325
Gene SymbolLARGE
Gene SynonymMDC1D; MDDGA6; MDDGB6
Chromosome22
Locus Map22q12.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_133642 Homo sapiens like-glycosyltransferase (LARGE), transcript variant 2, mRNA. In-stock $639.00 $590.00 15
NM_004737 Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA. In-stock $639.00 $590.00 15
XM_005261831 PREDICTED: Homo sapiens like-glycosyltransferase (LARGE), transcript variant X1, mRNA. On-demand $849.00 20
XM_005261832 PREDICTED: Homo sapiens like-glycosyltransferase (LARGE), transcript variant X2, mRNA. On-demand $849.00 20
XM_006724375 PREDICTED: Homo sapiens like-glycosyltransferase (LARGE), transcript variant X3, mRNA. On-demand $849.00 20
Title Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations .
Author Meilleur KG, Zukosky K, Medne L, Fequiere P, Powell-Hamilton N, Winder TL, Alsaman A, El-Hattab AW, Dastgir J, Hu Y, Donkervoort S, Golden JA, Eagle R, Finkel R, Scavina M, Hood IC, Rorke-Adams LB and Bonnemann CG.
Journal J. Neuropathol. Exp. Neurol. 73 (5), 425-441 (2014)
Title Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism .
Author Corominas R, Yang X, Lin GN, Kang S, Shen Y, Ghamsari L, Broly M, Rodriguez M, Tam S, Trigg SA, Fan C, Yi S, Tasan M, Lemmens I, Kuang X, Zhao N, Malhotra D, Michaelson JJ, Vacic V, Calderwood MA, Roth FP, Tavernier J, Horvath S, Salehi-Ashtiani K, Korkin D, Sebat J, Hill DE, Hao T, Vidal M and Iakoucheva LM.
Journal Nat Commun 5, 3650 (2014)
Title Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese .
Author He,J., Kelly,T.N., Zhao,Q., Li,H., Huang,J., Wang,L., Jaquish,C.E., Sung,Y.J., Shimmin,L.C., Lu,F., Mu,J., Hu,D., Ji,X., Shen,C., Guo,D., Ma,J., Wang,R., Shen,J., Li,S., Chen,J., Mei,H., Chen,C.S., Chen,S., Chen,J., Li,J., Cao,J., Lu,X., Wu,X., Rice,T.K., Gu,C.C., Schwander,K., Hamm,L.L., Liu,D., Rao,D.C., Hixson,J.E. and Gu,D.
Journal Circ Cardiovasc Genet 6 (6), 598-607 (2013)
Title LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy .
Author Goddeeris MM, Wu B, Venzke D, Yoshida-Moriguchi T, Saito F, Matsumura K, Moore SA and Campbell KP.
Journal Nature 503 (7474), 136-140 (2013)
Title Genetics of coronary artery calcification among African Americans, a meta-analysis .
Author Wojczynski MK, Li M, Bielak LF, Kerr KF, Reiner AP, Wong ND, Yanek LR, Qu L, White CC, Lange LA, Ferguson JF, He J, Young T, Mosley TH, Smith JA, Kral BG, Guo X, Wong Q, Ganesh SK, Heckbert SR, Griswold ME, O'Leary DH, Budoff M, Carr JJ, Taylor HA Jr, Bluemke DA, Demissie S, Hwang SJ, Paltoo DN, Polak JF, Psaty BM, Becker DM, Province MA, Post WS, O'Donnell CJ, Wilson JG, Harris TB, Kavousi M, Cupples LA, Rotter JI, Fornage M, Becker LC, Peyser PA, Borecki
Journal BMC Med. Genet. 14, 75 (2013)
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 RK, Voit T, Merlini L, Sewry CA, Brown
Journal Hum. Mol. Genet. 12 (21), 2853-2861 (2003)
Title Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies .
Author Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, Dollar J, Nishino I, Kelley RI, Somer H, Straub V, Mathews KD, Moore SA and Campbell KP.
Journal Nature 418 (6896), 417-422 (2002)
Title The DNA sequence of human chromosome 22 .
Author Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD and O'Brien KP.
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 AC, Xie YG, Han FY, Fransson I, Collins J, Dunham I, Kost-Alimova M, Imreh S and Dumanski JP.
Journal Proc. Natl. Acad. Sci. U.S.A. 96 (2), 598-603 (1999)
Title Congenital Muscular Dystrophy Overview .
Author Sparks,S., Quijano-Roy,S., Harper,A., Rutkowski,A., Gordon,E., Hoffman,E.P. and Pegoraro,E.
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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