DMPK, Official Symbol DMPKprovided by HGNC Official Full Name DM1 protein kinaseprovided by HGNC Primary source HGNC:HGNC:2933 See related Ensembl:ENSG00000104936 MIM:605377; AllianceGenome:HGNC:2933 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DM; DM1; DMK; MDPK; DM1PK; MT-PK Summary The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3' untranslated region of this gene contains 5-38 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in heart (RPKM 38.6), prostate (RPKM 25.3) and 23 other tissues See more Orthologs mouse all