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GENE AND PROTEIN SUMMARY

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Gene name

DMPK

Description

dystrophia myotonica-protein kinase

Protein class

Enzymes, Kinases, Mapped to UniProt SWISS-PROT, Potential transmembrane proteins

Protein evidence

High

Entrez gene 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 5-37 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. 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 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

7 in total
3 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Cytoplasm, Vesicles

Additional location(s)

 

Staining summary

Localized to the cytoplasm and vesicles.

Reliability (APE)

Medium

Antibodies in assay

HPA007164, HPA008905
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Selective cytoplasmic expression in myocytes and neuronal cells.

Tissue specificity

Expressed in 8 out of 81 cell types

Reliability (APE)

High

Antibodies in assay

HPA007164, HPA008905
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 12
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 14
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 4% of the cancers

Antibodies in assay

HPA007164, HPA008905
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

Medium
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA007164

HPA008905

HPA007164

HPA008905

A-431 Skin Medium
ModerateWeak
A-549 Lung Medium
CACO-2 Colon Low
HEK 293 Embryonal kidney Medium
HeLa Cervix Medium
Hep-G2 Liver Low
MCF-7 Pleural effusion Medium
PC-3 Bone marrow Low
RT-4 Urinary bladder Medium
U-2 OS Bone Medium
ModerateWeak
U-251 MG Brain Medium
ModerateWeak

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA007164 pAb
HPA008905 pAb