Protein Description

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

No tissues found.

Database Name

GWASdb

No sources found.

Gene Symbol Entrez ID Uniprot ID Score

DAG1

1605

Q14118

0.00

PLAUR

5329

Q03405

0.63

TMEM25

84866

Q86YD3

0.63