| Gene Symbol |
LARGE
|
| Entrez Gene |
9215
|
| Alt Symbol |
MDC1D, MDDGA6, MDDGB6
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
like-glycosyltransferase
|
| Other Description |
acetylglucosaminyltransferase-like 1A|acetylglucosaminyltransferase-like protein|glycosyltransferase-like protein LARGE1
|
| Swissprots |
Q17R80 Q9UGG3 Q9UGE7 O95461 B0QXZ7 Q9UGD1 Q9UH22 O60348 Q9UGZ8
|
| Accessions |
CAI17890 CAQ09433 CAQ09434 CAQ09435 CAX15214 CAX15215 EAW60041 EAW60042 EAW60043 O95461 AB011181 BAA25535 AI167885 AI198348 AI199197 AJ007583 CAA07571 AK294766 BAH11875 AK295636 BAH12135 AK301808 BAH13559 AK310462 BC117425 AAI17426 BC126404 AAI26405 BF057493 CR456510 CAG30396 CU013109 CAK54540 CU013397 CAK54839 DR000293 HQ258512 ADR83266 KJ534877 AHW56517 KJ535033 AHW56672 KJ535073 AHW56712 KJ535074 AHW56713 XM_005261831 XP_005261888 XM_005261832 XP_005261889 XM_011530510 XP_011528812 XM_011530511 XP_011528813 XM_011530512 XP_011528814 XM_011530513 XP_011528815 XM_011530514 XP_011528816 NM_004737 NP_004728 NM_133642 NP_598397
|
| Function |
Bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine- beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1) (PubMed:22223806). Phosphorylated O- mannosyl trisaccharid is required for binding laminin G-like domain-containing extracellular proteins with high affinity and plays a key role in skeletal muscle function and regeneration. LARGE elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure initiated by B3GNT1/B4GAT1 by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide (PubMed:25279699). {ECO:0000269|PubMed:15661757, ECO:0000269|PubMed:15752776, ECO:0000269|PubMed:21987822, ECO:0000269|PubMed:22223806, ECO:0000269|PubMed:25138275, ECO:0000269|PubMed:25279697, ECO:0000269|PubMed:25279699}.
|
| Subcellular Location |
Golgi apparatus membrane {ECO:0000269|PubMed:15661757, ECO:0000269|PubMed:15958417, ECO:0000269|PubMed:25279699}; Single-pass type II membrane protein {ECO:0000269|PubMed:15661757, ECO:0000269|PubMed:15958417}.
|
| Tissue Specificity |
Ubiquitous. Highest expression in heart, brain and skeletal muscle. {ECO:0000269|PubMed:15752776}.
|