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Sequence in raw or FASTA format:

Database:

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LARGE like-glycosyltransferase [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu28267 NM_133642 Homo sapiens like-glycosyltransferase (LARGE), transcript variant 2, mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu28267 NM_004737 Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu28267 XM_005261831 PREDICTED: Homo sapiens like-glycosyltransferase (LARGE), transcript variant X1, mRNA. pcDNA3.1+-DYK On-demand 12-14 $279.00
OHu28267 XM_005261832 PREDICTED: Homo sapiens like-glycosyltransferase (LARGE), transcript variant X2, mRNA. pcDNA3.1+-DYK On-demand 12-14 $279.00
OHu53759 XM_006724375 PREDICTED: Homo sapiens like-glycosyltransferase (LARGE), transcript variant X3, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu28267C NM_133642 Homo sapiens like-glycosyltransferase (LARGE), transcript variant 2, mRNA. Customized vector In-stock 5-7 $149.00
OHu28267C NM_004737 Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA. Customized vector In-stock 5-7 $149.00
OHu28267C XM_005261831 PREDICTED: Homo sapiens like-glycosyltransferase (LARGE), transcript variant X1, mRNA. Customized vector On-demand 12-14 $329.00
OHu28267C XM_005261832 PREDICTED: Homo sapiens like-glycosyltransferase (LARGE), transcript variant X2, mRNA. Customized vector On-demand 12-14 $329.00
OHu53759C XM_006724375 PREDICTED: Homo sapiens like-glycosyltransferase (LARGE), transcript variant X3, mRNA. Customized vector On-demand 7-9 $269.00

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Gene Symbol LARGE
Entrez Gene ID 9215
Full Name like-glycosyltransferase
Synonyms MDC1D, MDDGA6, MDDGB6
General protein information
Preferred Names
glycosyltransferase-like protein LARGE1
Names
glycosyltransferase-like protein LARGE1
like-acetylglucosaminyltransferase
acetylglucosaminyltransferase-like 1A
acetylglucosaminyltransferase-like protein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

22

22q12.3

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].
Disorder

MIM: 603590

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye

mRNA Protein Product Sequence Price Select
NM_004737, 189083833 NP_004728, 4758664 glycosyltransferase-like protein LARGE1 ORF Sequence $490.00
NM_133642, 189083834 NP_598397, 19924141 glycosyltransferase-like protein LARGE1 ORF Sequence $490.00
XM_005261831, 530420562 XP_005261888, 530420563 glycosyltransferase-like protein LARGE1 isoform X1 ORF Sequence $700.00
XM_005261832, 530420564 XP_005261889, 530420565 glycosyltransferase-like protein LARGE1 isoform X2 ORF Sequence $700.00
XM_006724375, 578837525 XP_006724438, 578837526 glycosyltransferase-like protein LARGE1 isoform X3 ORF Sequence $700.00
Homo sapiens (human)LARGENP_004728.1
Pan troglodytes (chimpanzee)LARGEXP_001154608.1
Macaca mulatta (Rhesus monkey)LARGEXP_001113031.1
Canis lupus familiaris (dog)LARGEXP_005625982.1
Bos taurus (cattle)LARGENP_001192517.1
Mus musculus (house mouse)LargeNP_034817.1
Gallus gallus (chicken)LARGENP_001004383.1
Danio rerio (zebrafish)largeNP_001004537.1
Xenopus (Silurana) tropicalis (western clawed frog)LOC100498555XP_002943094.2
Process
IDNameEvidence
GO:0006044N-acetylglucosamine metabolic processTAS
GO:0006486protein glycosylationIEA
GO:0006688glycosphingolipid biosynthetic processTAS
GO:0009101glycoprotein biosynthetic processTAS
GO:0046716muscle cell cellular homeostasisISS
Component
IDNameEvidence
GO:0030173integral component of Golgi membraneTAS
Function
IDNameEvidence
GO:0008375acetylglucosaminyltransferase activityTAS
GO:0016757transferase activity, transferring glycosyl groupsTAS
GeneCards LARGE
UniProt X5DR28, O95461
Vega OTTHUMG00000150914
MIM 603590
Ensembl ENSG00000133424
HGNC 6511
HPRD 04665

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Interactant

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