LARGE

Glycosyltransferase-like protein LARGE1 is an enzyme that in humans is encoded by the LARGE gene.^[5][6][7][8]

LARGE1
Identifiers
Aliases	LARGE1, MDC1D, MDDGA6, MDDGB6, LARGE, like-glycosyltransferase, LARGE xylosyl- and glucuronyltransferase 1
External IDs	OMIM: 603590; MGI: 1342270; HomoloGene: 7810; GeneCards: LARGE1; OMA:LARGE1 - orthologs
Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q12.3 Start 33,162,226 bp[1] End 33,922,841 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8 B3.3|8 35.08 cM Start 73,541,227 bp[2] End 74,080,168 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left ventricle apex of heart myocardium of left ventricle gastrocnemius muscle prefrontal cortex right auricle of heart right ventricle stromal cell of endometrium muscle of thigh muscle layer of sigmoid colon Top expressed in decidua subiculum Region I of hippocampus proper prefrontal cortex temporal lobe hippocampus proper amygdala primary motor cortex dentate gyrus of hippocampal formation granule cell piriform cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity acetylglucosaminyltransferase activity manganese ion binding glycosyltransferase activity metal ion binding catalytic activity UDP-xylosyltransferase activity glucuronosyltransferase activity xylosyltransferase activity protein binding Cellular component integral component of membrane integral component of Golgi membrane Golgi apparatus membrane Golgi membrane intracellular membrane-bounded organelle Biological process glycosphingolipid biosynthetic process glycoprotein biosynthetic process protein glycosylation metabolism N-acetylglucosamine metabolic process protein O-linked glycosylation protein O-linked mannosylation skeletal muscle tissue regeneration muscle cell cellular homeostasis skeletal muscle organ development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9215 16795 Ensembl ENSG00000133424 ENSMUSG00000004383 UniProt O95461 Q9Z1M7 RefSeq (mRNA) NM_004737 NM_133642 NM_001362949 NM_001362951 NM_001362953 NM_010687 NM_001317391 RefSeq (protein) NP_004728 NP_598397 NP_001349878 NP_001349880 NP_001349882 NP_001365553 NP_001365554 NP_001365555 NP_001365556 NP_001365557 NP_001365558 NP_001365559 NP_001365560 NP_001304320 NP_034817 Location (UCSC) Chr 22: 33.16 – 33.92 Mb Chr 8: 73.54 – 74.08 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. The exact function of LARGE, a golgi protein, remains uncertain.^[7] 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 mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein.^[7][8]

LARGE may also play a role in tumor-specific genomic rearrangements. Mutations in this gene may be involved in the development and progression of meningioma through modification of ganglioside composition and other glycosylated molecules in tumor cells.