DMPK

GENE INFORMATION

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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 (Chromosome progress)

Cytoband

q13.32

Chromosome location (bp)

46272975 - 46285810

Ensembl

ENSG00000104936 (version 73.37)

Entrez gene

1760

UniProt

Q09013 (UniProt - Evidence at protein level)

neXtProt

NX_Q09013

Antibodypedia

DMPK antibodies
 

PROTEIN VIEW

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DMPK-001
 
DMPK-002
 
DMPK-003
 
DMPK-004
 
DMPK-005
 
DMPK-007
 
DMPK-008
 
DMPK-012
 
DMPK-019
 
DMPK-020
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DMPK-001 ENSP00000413417
ENST00000447742
Q09013
Show all »
Show » Show » 624 69 No 1
DMPK-002 ENSP00000468013
ENST00000588522
K7EQX1
Show all »
Show » 78 9 No 0
DMPK-003 ENSP00000346168
ENST00000354227
Q09013
Show all »
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
Q09013
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
Q09013
Show all »
Show » Show » 639 70.4 No 1
DMPK-012 ENSP00000470192
ENST00000596067
M0QZ00
Show all »
Show » 125 14.5 No 0
DMPK-019 ENSP00000469220
ENST00000593574
Show » 183 19.1 No 0
DMPK-020 ENSP00000471832
ENST00000597660
M0R1F3
Show all »
Show » 188 20.6 No 0