SCUBA

LARGE1 — LARGE xylosyl- and glucuronyltransferase 1

LARGE1 belongs to a gene co-expression module in 1 of 28 SCUBA cell types. Each module groups genes that rise and fall together in that cell type; the genes it shares a module with are its closest co-expression partners there.

LARGE1's module in each cell type

Cell typeModuleShares the module with
EnterocytesLong-gene transcript bias
Technical artifact
CBLB, CSTPP1, GALNT6, GSDME, PLXNA2, RAD51BView in SCUBA

About the gene

SynonymsKIAA0609, LARGE
Chromosome22: 33162226-33922841
Predicted locationIntracellular
Essential geneNo
Protein classDisease related genes, Human disease related genes, Predicted intracellular proteins
Molecular functionGlycosyltransferase, Multifunctional enzyme, Transferase

Function

Bifunctional glycosyltransferase with both alpha-1,3- xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the maturation of alpha-dystroglycan (DAG1) by glycosylation leading to DAG1 binding to laminin G-like domain- containing extracellular proteins with high affinity. Elongates the glucuronyl-beta-1,4- xylose-beta disaccharide primer structure initiated by B4GAT1 by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide. Requires the phosphorylation of core M3 (O-mannosyl trisaccharide) by POMK to elongate the glucuronyl-beta-1,4-xylose-beta disaccharide primer. Plays a key role in skeletal muscle function and regeneration (By similarity).

Human Protein Atlas · Open Targets · UniProt

Gene annotation from the Human Protein Atlas and UniProt; see sources & licences.