Rabbit Anti-DMPK Recombinant Antibody (EG973) (CBMAB-EN1155-LY)

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Datasheet

Summary

Host Animal

Rabbit

Specificity

Human

Clone

EG973

Antibody Isotype

IgG

Application

WB: 1:500~1:1000 ELISA: 1:40000

Basic Information

Immunogen

The antibody was produced against synthesized peptide derived from N-terminal of human DMPK.

Specificity

Human

Antibody Isotype

IgG

Clonality

Monoclonal

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format

Liquid

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name

DM1 Protein Kinase

Introduction

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]

Entrez Gene ID

1760

UniProt ID

Q09013

Alternative Names

DM1 Protein Kinase; Myotonic Dystrophy Associated Protein Kinase; Dystrophia Myotonica Protein Kinase; Myotonin Protein Kinase A; Thymopoietin Homolog; DM Protein Kinase; EC 2.7.11.1; DM1PK; MT-PK; MDPK;

Function

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.

Biological Process

Cellular calcium ion homeostasis Source: UniProtKB
Intracellular signal transduction Source: GO_Central
Muscle cell apoptotic process Source: UniProtKB
Nuclear envelope organization Source: UniProtKB
Peptidyl-serine phosphorylation Source: GO_Central
Protein phosphorylation Source: UniProtKB
Regulation of heart contraction Source: UniProtKB
Regulation of myotube differentiation Source: UniProtKB
Regulation of skeletal muscle contraction by calcium ion signaling Source: GO_Central

Cellular Location

Cell membrane; Cytosol; Endoplasmic reticulum membrane; Mitochondrion outer membrane; Nucleus outer membrane; Sarcoplasmic reticulum membrane. Localizes to sarcoplasmic reticulum membranes of cardiomyocytes.
Isoform 1&1: Mitochondrion membrane

Involvement in disease

Dystrophia myotonica 1 (DM1):
The disease is caused by variants affecting the gene represented in this entry. 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. A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias.

Topology

Cytoplasmic: 1-590
Helical: 591-611
Lumenal: 612-629

PTM

Phosphorylated. Autophosphorylates. Phosphorylation by RAF1 may result in activation of DMPK.
Proteolytic processing of the C-terminus may remove the transmembrane domain and release the kinase from membranes stimulating its activity.

More Infomation

References

Locci, S., Cardani, R., Brunori, P., Lucchiari, S., Comi, G. P., Federico, A., ... & Mignarri, A. (2021). Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia. Neurological Sciences, 42(12), 5365-5368.

Langbehn, K. E., Carlson-Stadler, Z., van der Plas, E., Hefti, M. M., Dawson, J. D., Moser, D. J., & Nopoulos, P. C. (2021). DMPK mRNA expression in human brain tissue throughout the lifespan. Neurology Genetics, 7(1).

Yadava, R. S., Yu, Q., Mandal, M., Rigo, F., Bennett, C. F., & Mahadevan, M. S. (2020). Systemic therapy in an RNA toxicity mouse model with an antisense oligonucleotide therapy targeting a non-CUG sequence within the DMPK 3′ UTR RNA. Human molecular genetics, 29(9), 1440-1453.

Légaré, C., Overend, G., Guay, S. P., Monckton, D. G., Mathieu, J., Gagnon, C., & Bouchard, L. (2019). DMPK gene DNA methylation levels are associated with muscular and respiratory profiles in DM1. Neurology Genetics, 5(3).

Scrudato, M. L., Poulard, K., Sourd, C., Tomé, S., Klein, A. F., Corre, G., ... & Buj-Bello, A. (2019). Genome editing of expanded CTG repeats within the human DMPK gene reduces nuclear RNA foci in the muscle of DM1 mice. Molecular Therapy, 27(8), 1372-1388.

Jauvin, D., Chrétien, J., Pandey, S. K., Martineau, L., Revillod, L., Bassez, G., ... & Puymirat, J. (2017). Targeting DMPK with antisense oligonucleotide improves muscle strength in myotonic dystrophy type 1 mice. Molecular Therapy-Nucleic Acids, 7, 465-474.

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Protocols

Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme-Linked Immunospot (ELISpot)
Proteogenomics
Other Protocols

Associated Products

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Isotype control

For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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