其他名称： DMPK; DM1PK; MDPK; Myotonin-protein kinase; MT-PK; DM-kinase; DMK; DM1 protein kinase; DMPK; Myotonic dystrophy protein kinase
实测条带： 70kD
功能： catalytic activity:ATP + a protein = ADP + a phosphoprotein.,cofactor:Magnesium.,disease:Defects in DMPK are the cause of myotonic dystrophy 1 (DM1) [MIM:160900]; also known as Steinert disease. DM is an autosomal dominant neurodegenerative disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness, and cardiac arrhythmias. DM patients show decreased levels of kinase expression inversely related to repeat length. The minimum estimated incidence is 1 in 8'000 live births. DM1 is caused by a CTG expansion in the 3'-UTR of the DMPK gene. The repeat length usually increases in successive generations, but not always.,enzyme regulation:Activated in response to G protein second messengers. Maintained in an inactive conformation by the negative autoregulatory C-terminal coiled-coil region. Coiled-coil mediated oligomerization correlated with enhanced catalytic activity as is proteolytical cleavage near the C-terminus.,function:Critical to the modulation of cardiac contractility and to the maintenance of proper cardiac conduction activity. Phosphorylates phospholamban.,similarity:Belongs to the protein kinase superfamily.,similarity:Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. DMPK subfamily.,similarity:Contains 1 AGC-kinase C-terminal domain.,similarity:Contains 1 protein kinase domain.,tissue specificity:Most isoforms are expressed in many tissues including heart, skeletal muscle, liver and brain, except for isoform 2 which is only found in the heart and skeletal muscle, and isoform 14 which is only found in the brain, with high levels in the striatum, cerebellar cortex and pons.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Endoplasmic reticulum membrane ; Single-pass type IV membrane protein ; Cytoplasmic side . Nucleus outer membrane ; Single-pass type IV membrane protein ; Cytoplasmic side . Mitochondrion outer membrane ; Single-pass type IV membrane protein . Sarcoplasmic reticulum membrane . Cell membrane . Cytoplasm, cytosol . Localizes to sarcoplasmic reticulum membranes of cardiomyocytes. .; [Isoform 1]: Mitochondrion membrane.; [Isoform 3]: Mitochondrion membrane.
组织表达： Most isoforms are expressed in many tissues including heart, skeletal muscle, liver and brain, except for isoform 2 which is only found in the heart and skeletal muscle, and isoform 14 which is only found in the brain, with high levels in the striatum, cerebellar cortex and pons.
其他名称： DMPK; DM1PK; MDPK; Myotonin-protein kinase; MT-PK; DM-kinase; DMK; DM1 protein kinase; DMPK; Myotonic dystrophy protein kinase
实测条带： 70kD
功能： catalytic activity:ATP + a protein = ADP + a phosphoprotein.,cofactor:Magnesium.,disease:Defects in DMPK are the cause of myotonic dystrophy 1 (DM1) [MIM:160900]; also known as Steinert disease. DM is an autosomal dominant neurodegenerative disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness, and cardiac arrhythmias. DM patients show decreased levels of kinase expression inversely related to repeat length. The minimum estimated incidence is 1 in 8'000 live births. DM1 is caused by a CTG expansion in the 3'-UTR of the DMPK gene. The repeat length usually increases in successive generations, but not always.,enzyme regulation:Activated in response to G protein second messengers. Maintained in an inactive conformation by the negative autoregulatory C-terminal coiled-coil region. Coiled-coil mediated oligomerization correlated with enhanced catalytic activity as is proteolytical cleavage near the C-terminus.,function:Critical to the modulation of cardiac contractility and to the maintenance of proper cardiac conduction activity. Phosphorylates phospholamban.,similarity:Belongs to the protein kinase superfamily.,similarity:Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. DMPK subfamily.,similarity:Contains 1 AGC-kinase C-terminal domain.,similarity:Contains 1 protein kinase domain.,tissue specificity:Most isoforms are expressed in many tissues including heart, skeletal muscle, liver and brain, except for isoform 2 which is only found in the heart and skeletal muscle, and isoform 14 which is only found in the brain, with high levels in the striatum, cerebellar cortex and pons.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Endoplasmic reticulum membrane ; Single-pass type IV membrane protein ; Cytoplasmic side . Nucleus outer membrane ; Single-pass type IV membrane protein ; Cytoplasmic side . Mitochondrion outer membrane ; Single-pass type IV membrane protein . Sarcoplasmic reticulum membrane . Cell membrane . Cytoplasm, cytosol . Localizes to sarcoplasmic reticulum membranes of cardiomyocytes. .; [Isoform 1]: Mitochondrion membrane.; [Isoform 3]: Mitochondrion membrane.
组织表达： Most isoforms are expressed in many tissues including heart, skeletal muscle, liver and brain, except for isoform 2 which is only found in the heart and skeletal muscle, and isoform 14 which is only found in the brain, with high levels in the striatum, cerebellar cortex and pons.
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