DMPK blocking peptide

DMPK Antibody (N-term) Blocking Peptide

• Gene Names: DMPK; DM; DM1; DMK; MDPK; DM1PK; MT-PK
• Synonyms: DMPK; DMPK Antibody (N-term) Blocking Peptide; Myotonin-protein kinase; MT-PK; DM-kinase; DMK; DM1 protein kinase; Myotonic dystrophy protein kinase; DM1PK; MDPK; DMPK blocking peptide

• Form/Format: Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.
• Sequence Length: 629

• Cellular Location: 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. Note: Localizes to sarcoplasmic reticulum membranes of cardiomyocytes. Isoform 3: Mitochondrion membrane.
• Tissue Location: 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
• Preparation and Storage: Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Related Product Information for DMPK blocking peptide

Non-receptor serine/threonine protein kinase which is necessary for the maintenance of skeletal muscle structure and function. May play a role in myocyte differentiation and survival by regulating the integrity of the nuclear envelope and the expression of muscle-specific genes. May also phosphorylate PPP1R12A and inhibit the myosin phosphatase activity to regulate myosin phosphorylation. Also critical to the modulation of cardiac contractility and to the maintenance of proper cardiac conduction activity probably through the regulation of cellular calcium homeostasis. Phosphorylates PLN, a regulator of calcium pumps and may regulate sarcoplasmic reticulum calcium uptake in myocytes. May also phosphorylate FXYD1/PLM which is able to induce chloride currents. May also play a role in synaptic plasticity.

NCBI and Uniprot Product Information

• NCBI GI #: 363548519
• NCBI GeneID: 1760
• UniProt Accession #: Q09013; Q16205; Q6P5Z6; E5KR08
• Molecular Weight: 60,790 Da
• NCBI Official Full Name: Myotonin-protein kinase
• NCBI Official Synonym Full Names: dystrophia myotonica protein kinase
• NCBI Official Symbol: DMPK
• NCBI Official Synonym Symbols: DM; DM1; DMK; MDPK; DM1PK; MT-PK
• NCBI Protein Information: myotonin-protein kinase
• UniProt Protein Name: Myotonin-protein kinase
• Protein Family: Myotonin-protein kinase
• UniProt Gene Name: DMPK
• UniProt Synonym Gene Names: DM1PK; MDPK; MT-PK; DMK
• UniProt Entry Name: DMPK_HUMAN

NCBI Description

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]

Uniprot Description

DMPK1: Non-receptor serine/threonine protein kinase which is necessary for the maintenance of skeletal muscle structure and function. May play a role in myocyte differentiation and survival by regulating the integrity of the nuclear envelope and the expression of muscle-specific genes. May also phosphorylate PPP1R12A and inhibit the myosin phosphatase activity to regulate myosin phosphorylation. Also critical to the modulation of cardiac contractility and to the maintenance of proper cardiac conduction activity probably through the regulation of cellular calcium homeostasis. Phosphorylates PLN, a regulator of calcium pumps and may regulate sarcoplasmic reticulum calcium uptake in myocytes. May also phosphorylate FXYD1/PLM which is able to induce chloride currents. May also play a role in synaptic plasticity. Defects in DMPK are the cause of dystrophia myotonica type 1 (DM1); also known as Steinert disease. A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias. The causative mutation is a CTG expansion in the 3'-UTR of the DMPK gene. A length exceeding 50 CTG repeats is pathogenic, while normal individuals have 5 to 37 repeats. Intermediate alleles with 35-49 triplets are not disease-causing but show instability in intergenerational transmissions. Disease severity varies with the number of repeats: mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. DMPK subfamily. 12 isoforms of the human protein are produced by alternative splicing.

Protein type: Kinase, protein; Protein kinase, Ser/Thr (non-receptor); Protein kinase, AGC; Mitochondrial; EC 2.7.11.1; Membrane protein, integral; AGC group; DMPK family; GEK subfamily

Chromosomal Location of Human Ortholog: 19q13.3

Cellular Component: cytosol; endoplasmic reticulum membrane; integral to mitochondrial outer membrane; nuclear membrane; plasma membrane; sarcoplasmic reticulum membrane

Molecular Function: ATP binding; myosin phosphatase regulator activity; protein binding; protein serine/threonine kinase activity

Biological Process: cellular calcium ion homeostasis; nuclear membrane organization and biogenesis; peptidyl-serine phosphorylation; protein amino acid phosphorylation; regulation of heart contraction; regulation of skeletal muscle contraction by calcium ion signaling

Disease: Myotonic Dystrophy 1