Cell Biology Antibodies 1

Anti-DMPK Antibody (CAB10442)

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SKU:
CAB10442
Product Type:
Antibody
Reactivity:
Human
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Polyclonal Antibody
Research Area:
Cell Biology

Description

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Antibody Name:Anti-DMPK Antibody
Antibody SKU:CAB10442
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Human
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 350-590 of human DMPK (NP_004400.4).
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Reactivity:Human
Positive Samples:A-549
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 350-590 of human DMPK (NP_004400.4).
Purification Method:Affinity purification
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:SVPP FTPD FEGA TDTC NFDL VEDG LTAM VSGG GETL SDIR EGAP LGVH LPFV GYSY SCMA LRDS EVPG PTPM ELEA EQLL EPHV QAPS LEPS VSPQ DETA EVAV PAAV PAAE AEAE VTLR ELQE ALEE EVLT RQSL SREM EAIR TDNQ NFAS QLRE AEAR NRDL EAHV RQLQ ERME LLQA EGAT AVTG VPSP RATD PPSH LDGP PAVA VGQC PLVG PGPM HRRH LLLP ARVP RPGL SEAL S
Gene ID:1760
Uniprot:Q09013
Cellular Location:Cell membrane, Cytoplasm, Cytoplasmic side, Endoplasmic reticulum membrane, Mitochondrion membrane, Mitochondrion outer membrane, Nucleus outer membrane, Sarcoplasmic reticulum membrane, Single-pass type IV membrane protein, cytosol
Calculated MW:59kDa/60kDa/65kDa/67kDa/69kDa/70kDa
Observed MW:75kDa
Synonyms:DMPK, DM, DM1, DM1PK, DMK, MDPK, MT-PK
Background: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.
UniProt Protein Function: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.
UniProt Protein Details:

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

NCBI 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]
UniProt Code:Q09013
NCBI GenInfo Identifier:363548519
NCBI Gene ID:1760
NCBI Accession:Q09013.3
UniProt Secondary Accession:Q09013,Q16205, Q6P5Z6, E5KR08,
UniProt Related Accession:Q09013
Molecular Weight:60,790 Da
NCBI Full Name:Myotonin-protein kinase
NCBI 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
UniProt Synonym Protein Names:DM-kinase; DMK; DM1 protein kinase; DMPK; Myotonic dystrophy protein kinase
Protein Family:Myotonin-protein kinase
UniProt Gene Name:DMPK  
UniProt Entry Name:DMPK_HUMAN
Anti-DMPK Antibody (CAB10442)Western blot analysis of extracts of A-549 cells, using DMPK antibody (CAB10442) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 5s.
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