acetylglucosaminyltransferase-like protein LARGE; acetylglucosaminyltransferase-like 1A (LARGE, LARGE1, KIAA0609)

Function

• presumptive glycosyltransferase
• glycosylation of alpha-dystroglycan
• synthesis of glycoprotein & glycosphingolipid sugar chains
  • addition of a repeated disaccharide unit (putative)
• interacts with DAG1 (via N-terminal domain of alpha-DAG1); the interaction increases binding of DAG1 to laminin

Structure

• belongs to the glycosyltransferase 8 family

Compartment

• Golgi membrane; single-pass type 2 membrane protein

Alternative splicing

named isoforms=2

Expression

• ubiquitous
• highest expression in heart, brain, skeletal muscle

Pathology

• defects associated with congenital muscular dystrophy type 1D

More general terms

• glycosyltransferase
• human longevity protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=9215
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:9215
• OMIM: https://mirror.omim.org/entry/603590
• OMIM: https://mirror.omim.org/entry/608840
• UniProt: http://www.uniprot.org/uniprot/O95461.html