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FIGURE: 1 / 4
Sequence of this protein is as follows: MSAEVRLRRL QQLVLDPGFL GLEPLLDLLL GVHQELGASE LAQDKYVADF LQWAEPIVVR LKEVRLQRDD FEILKVIGRG AFSEVAVVKM KQTGQVYAMK IMNKWDMLKR GEVSCFREER DVLVNGDRRW ITQLHFAFQD ENYLYLVMEY YVGGDLLTLL SKFGERIPAE MARFYLAEIV MAIDSVHRLG YVHRDIKPDN ILLDRCGHIR LADFGSCLKL RADGTVRSLV AVGTPDYLSP EILQAVGGGP GTGSYGPECD WWALGVFAYE MFYGQTPFYA DSTAETYGKI VHYKEHLSLP LVDEGVPEEA RDFIQRLLCP PETRLGRGGA GDFRTHPFFF GLDWDGLRDS VPPFTPDFEG ATDTCNFDLV EDGLTAMVSG GGETLSDIRE GAPLGVHLPF VGYSYSCMAL RDSEVPGPTP MELEAEQLLE PHVQAPSLEP SVSPQDETAE VAVPAAVPAA EAEAEVTLRE LQEALEEEVL TRQSLSREME AIRTDNQNFA SQLREAEARN RDLEAHVRQL QERMELLQAE GATAVTGVPS PRATDPPSHL DGPPAVAVGQ CPLVGPGPMH RRHLLLPARV PRPGLSEALS LLLFAVVLSR AAALGCIGLV AHAGQLTAVW RRPGAARAP
DMPK is a serine/threonine kinase expressed in various muscle and nerve tissues. Mutations in the untranslated region of the DMPK gene are a characteristic of myotonic dystrophy. 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 5-37 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.
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Protein Aliases: DM protein kinase; DM-kinase; DM1 protein kinase; DMK; DMPK; dystrophia myotonica kinase, B15; dystrophia myotonica-protein kinase; MDPK; MT-PK; myotonic dystrophy associated protein kinase; Myotonic dystrophy protein kinase; myotonin protein kinase A; Myotonin-protein kinase; thymopoietin homolog
Gene Aliases: DM; DM1; Dm15; DM1PK; DMK; DMPK; MDPK; MT-PK
UniProt ID: (Human) Q09013, (Mouse) P54265
Entrez Gene ID: (Human) 1760, (Rat) 308405, (Mouse) 13400
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