LARGE

Entrez 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 cognitive disability 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].
UniProt Summary: N/A

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Expression Distribution

Screen	Score
RK-33 8μM R08 exp518	-1.7
Apcin 50 to 100μM on day4 R04 exp176	1.74
ABT-702 5μM R07 exp318	1.89
∆-9-Tetrahydrocannabinol 30μM R08 exp445	2.1

xylosyltransferase activity
UDP-xylosyltransferase activity
N-acetylglucosamine metabolic process
transferase activity, transferring glycosyl groups
protein O-linked mannosylation
muscle cell cellular homeostasis
acetylglucosaminyltransferase activity
glycosphingolipid biosynthetic process
glucosamine-containing compound metabolic process
protein mannosylation
glucuronosyltransferase activity
skeletal muscle tissue regeneration
mannosylation
amino sugar metabolic process
manganese ion binding
integral component of Golgi membrane
tissue regeneration
glycolipid biosynthetic process
glycosphingolipid metabolic process
sphingolipid biosynthetic process
glycolipid metabolic process
liposaccharide metabolic process
protein O-linked glycosylation
membrane lipid biosynthetic process
skeletal muscle organ development
sphingolipid metabolic process
regeneration
membrane lipid metabolic process
protein glycosylation
macromolecule glycosylation
glycosylation
muscle organ development
glycoprotein biosynthetic process
anatomical structure homeostasis
glycoprotein metabolic process
developmental growth
growth
muscle structure development
wound healing
response to wounding