DMPK

GENERAL INFORMATION

? »

Gene name

DMPK

Gene description

Dystrophia myotonica-protein kinase

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

10
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Selective cytoplasmic expression in myocytes and neuronal cells.

ANTIBODY RELIABILITY

? »

Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA007164 , HPA008905
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Skeletal muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

? »

Gene name

DMPK (HGNC Symbol)

Synonyms

DM, DM1, DM1PK, DMK, MDPK, MT-PK

Description

Dystrophia myotonica-protein kinase (HGNC Symbol)

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]

Chromosome

19

Cytoband

q13.32

Chromosome location (bp)

45769717 - 45782552

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000104936 (version 78.38)

Entrez gene

1760

UniProt

Q09013 (UniProt - Evidence at protein level)

neXtProt

NX_Q09013

Antibodypedia

DMPK antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000291270
 
ENST00000343373
 
ENST00000354227
 
ENST00000447742
 
ENST00000458663
 
ENST00000593574
 
ENST00000596067
 
ENST00000597660
 
ENST00000600757
 
ENST00000618091
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DMPK-001 ENSP00000413417
ENST00000447742
E5KR07
Show all »
Show » Show » 624 69 No 1
DMPK-003 ENSP00000346168
ENST00000354227
Show » Show » 530 59.4 No 0
DMPK-004 ENSP00000291270
ENST00000291270
Q09013
Show all »
Show » Show » 629 69.4 No 1
DMPK-005 ENSP00000401753
ENST00000458663
E5KR05
Show all »
Show » Show » 625 69.6 No 0
DMPK-007 ENSP00000472965
ENST00000600757
M0R333
Show all »
Show » Show » 635 70.6 No 0
DMPK-008 ENSP00000345997
ENST00000343373
X5D8Z6
Show all »
Show » Show » 639 70.4 No 1
DMPK-012 ENSP00000470192
ENST00000596067
M0QZ00
Show all »
Show » Show » 125 14.5 No 0
DMPK-019 ENSP00000469220
ENST00000593574
Show » Show » 183 19.1 No 0
DMPK-020 ENSP00000471832
ENST00000597660
M0R1F3
Show all »
Show » Show » 188 20.6 No 0
DMPK-201 ENSP00000482746
ENST00000618091
E5KR05
Show all »
Show » Show » 625 69.6 No 0