FEATURES

FAMILY

DESCRIPTION

Also known as CARME_HUMAN, CARNMT1, C9orf41. N-methyltransferase that catalyzes the formation of anserine (beta-alanyl-N(Pi)-methyl-L-histidine) from carnosine. Anserine, a methylated derivative of carnosine (beta-alanyl-L-histidine), is an abundant constituent of vertebrate skeletal muscles. Also methylates other L-histidine-containing di- and tripeptides such as Gly-Gly-His, Gly-His and homocarnosine (GABA-His). Homodimer. Each monomer accommodates one molecule of carnosine in its active pocket (residues 313-398), precisely anchoring the histidine imidazole ring such that only N1 is exposed and deprotonated for methylation.

EXTERNAL LINKS

CARNMT1

Mutations

Mutation(s) distribution

Mutations table