Gene Symbol | LARGE |
Entrez ID | 9215 |
Uniprot ID | O95461 |
Description | like-glycosyltransferase |
Chromosomal Location | chr22: 33,162,226-33,922,841 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0006044 |
N-acetylglucosamine metabolic process |
The chemical reactions and pathways involving N-acetylglucosamine. The D isomer is a common structural unit of glycoproteins in plants, bacteria and animals; it is often the terminal sugar of an oligosaccharide group of a glycoprotein. |
TAS |
BP |
GO:0006486 |
protein glycosylation |
A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. |
TAS |
BP |
GO:0006493 |
protein O-linked glycosylation |
A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. |
TAS |
BP |
GO:0006688 |
glycosphingolipid biosynthetic process |
The chemical reactions and pathways resulting in the formation of glycosphingolipid, a compound with residues of sphingoid and at least one monosaccharide. |
TAS |
BP |
GO:0009101 |
glycoprotein biosynthetic process |
The chemical reactions and pathways resulting in the formation of glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. |
TAS |
BP |
GO:0035269 |
protein O-linked mannosylation |
The transfer of mannose from dolichyl activated mannose to the hydroxyl group of a seryl or threonyl residue of a protein acceptor molecule, to form an O-linked protein-sugar linkage. |
IDA |
BP |
GO:0043403 |
skeletal muscle tissue regeneration |
The regrowth of skeletal muscle tissue to repair injured or damaged muscle fibers in the postnatal stage. |
ISS |
BP |
GO:0046716 |
muscle cell cellular homeostasis |
The cellular homeostatic process that preserves a muscle cell in a stable functional or structural state. |
ISS |
BP |
GO:0060538 |
skeletal muscle organ development |
The progression of a skeletal muscle organ over time from its initial formation to its mature state. A skeletal muscle organ includes the skeletal muscle tissue and its associated connective tissue. |
ISS |
CC |
GO:0000139 |
Golgi membrane |
The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
TAS |
CC |
GO:0005794 |
Golgi apparatus |
A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions. |
IDA |
CC |
GO:0030173 |
integral component of Golgi membrane |
The component of the Golgi membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
TAS |
MF |
GO:0008375 |
acetylglucosaminyltransferase activity |
Catalysis of the transfer of an N-acetylglucosaminyl residue from UDP-N-acetyl-glucosamine to a sugar. |
TAS |
MF |
GO:0015020 |
glucuronosyltransferase activity |
Catalysis of the reaction: UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside. |
IDA|TAS |
MF |
GO:0016757 |
transferase activity, transferring glycosyl groups |
Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor). |
TAS |
MF |
GO:0030145 |
manganese ion binding |
Interacting selectively and non-covalently with manganese (Mn) ions. |
IDA |
MF |
GO:0035252 |
UDP-xylosyltransferase activity |
Catalysis of the transfer of a xylosyl group from UDP-xylose to an acceptor molecule. |
TAS |
MF |
GO:0042285 |
xylosyltransferase activity |
Catalysis of the transfer of a xylosyl group to an acceptor molecule, typically another carbohydrate or a lipid. |
IDA |
Domain ID | Description |
---|---|
IPR002495 |
Glycosyl transferase, family 8 |
IPR029044 |
Nucleotide-diphospho-sugar transferases |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa00515 |
Mannose type O-glycan biosynthesis |
KEGG |
hsa01100 |
Metabolic pathways |
KEGG |
UMLS CUI | UMLS Term |
---|---|
C0023903 |
Liver Neoplasms |
C0043094 |
Weight Gain |
C0236733 |
Amphetamine-Related Disorders |
C0265221 |
Walker-Warburg Congenital Muscular Dystrophy |
C0457133 |
Muscle Eye Brain Disease |
Database Name |
---|
GWASdb |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
DAG1 |
1605 |
Q14118 |
0.00 |
PLAUR |
5329 |
Q03405 |
0.63 |
TMEM25 |
84866 |
Q86YD3 |
0.63 |