InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: DMPK

Summary

InnateDB Gene

IDBG-57994.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DMPK

Gene Name

dystrophia myotonica-protein kinase

Synonyms

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

Species

Homo sapiens

Ensembl Gene

ENSG00000104936

Encoded Proteins

IDBP-58000

dystrophia myotonica-protein kinase

IDBP-58002

dystrophia myotonica-protein kinase

IDBP-58006

dystrophia myotonica-protein kinase

IDBP-382060

dystrophia myotonica-protein kinase

IDBP-382063

dystrophia myotonica-protein kinase

IDBP-762978

IDBP-765125

IDBP-760371

IDBP-761279

IDBP-765120

IDBP-811296

dystrophia myotonica-protein kinase

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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]
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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 19:45769717-45782552

Strand

Reverse strand

Band

q13.32

Transcripts

ENST00000291270	ENSP00000291270
ENST00000343373	ENSP00000345997
ENST00000354227	ENSP00000346168
ENST00000447742	ENSP00000413417
ENST00000458663	ENSP00000401753
ENST00000599392
ENST00000598191
ENST00000600757	ENSP00000472965
ENST00000597660	ENSP00000471832
ENST00000598272
ENST00000588522	ENSP00000468013
ENST00000596686
ENST00000596920
ENST00000599002
ENST00000593574	ENSP00000469220
ENST00000598180
ENST00000600370
ENST00000595361
ENST00000596067	ENSP00000470192
ENST00000618091	ENSP00000482746

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 28 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	28 [view]
Protein-Protein	24 [view]
Protein-DNA	0
Protein-RNA	3 [view]
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004672	protein kinase activity
GO:0004674	protein serine/threonine kinase activity
GO:0004713	protein tyrosine kinase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016772	transferase activity, transferring phosphorus-containing groups
GO:0017020	myosin phosphatase regulator activity
GO:0031072	heat shock protein binding
GO:0046872	metal ion binding

Biological Process

GO:0002028	regulation of sodium ion transport
GO:0006468	protein phosphorylation
GO:0006874	cellular calcium ion homeostasis
GO:0006998	nuclear envelope organization
GO:0008016	regulation of heart contraction
GO:0010657	muscle cell apoptotic process
GO:0010830	regulation of myotube differentiation
GO:0014722	regulation of skeletal muscle contraction by calcium ion signaling
GO:0014853	regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction
GO:0050790	regulation of catalytic activity
GO:0051823	regulation of synapse structural plasticity

Cellular Component

GO:0005640	nuclear outer membrane
GO:0005789	endoplasmic reticulum membrane
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0031307	integral component of mitochondrial outer membrane
GO:0031965	nuclear membrane
GO:0033017	sarcoplasmic reticulum membrane

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000030409

View Gene Order

ENSBTAG00000013347

Not yet available

Cross-References

SwissProt

Q09013

TrEMBL

E5KR05 E5KR06 E5KR07 E5KR08 K7EQX1 M0QZ00 M0R1F3 M0R333 Q59FU6 X5D8Z6

UniProt Splice Variant

Entrez Gene

1760

UniGene

Hs.631596 Hs.729792

RefSeq

NM_001081560 NM_001081562 NM_001081563 NM_001288764 NM_001288765 NM_001288766 NM_004409

HUGO

HGNC:2933

OMIM

605377

CCDS

CCDS12674 CCDS46117 CCDS46118 CCDS46119 CCDS74400

HPRD

IMGT

EMBL

AB209363 AC011530 AC074212 BC062553 CH471126 HQ205626 HQ205627 HQ205628 HQ205629 HQ205630 HQ205631 HQ205632 HQ205633 HQ205634 HQ205635 HQ205636 HQ205637 HQ205638 HQ205639 HQ205640 HQ205641 HQ205642 HQ205643 HQ205644 HQ205645 HQ205646 HQ205647 HQ205648 HQ205649 HQ205650 HQ205651 HQ205652 HQ205653 HQ205654 HQ205655 HQ205656 HQ205657 HQ205658 HQ205659 HQ205660 HQ205661 HQ205662 HQ205663 HQ205664 HQ205665 KJ534827 KJ534828 L00727 L08835 L19266 L19268 M87312 M94203 S72883 U46546

GenPept

AAA36205 AAA36206 AAA64884 AAA75235 AAA75236 AAA75237 AAA75238 AAA75239 AAA75240 AAA87583 AAB31800 AAC14448 AAC14449 AAC14450 AAC14451 AAH62553 ADP91334 ADP91335 ADP91336 ADP91337 ADP91338 ADP91339 ADP91340 ADP91341 ADP91342 ADP91343 ADP91344 ADP91345 ADP91346 ADP91347 ADP91348 ADP91349 ADP91350 ADP91351 ADP91352 ADP91353 ADP91354 ADP91355 ADP91356 ADP91357 ADP91358 ADP91359 ADP91360 ADP91361 ADP91362 ADP91363 ADP91364 ADP91365 ADP91366 ADP91367 ADP91368 ADP91369 ADP91370 ADP91371 ADP91372 ADP91373 ADP91374 ADP91375 ADP91376 ADP91377 ADP91378 ADP91379 ADP91380 ADP91381 ADP91382 ADP91383 ADP91384 ADP91385 ADP91386 ADP91387 ADP91388 ADP91389 ADP91390 ADP91391 ADP91392 ADP91393 ADP91394 ADP91395 ADP91396 ADP91397 ADP91398 ADP91399 ADP91400 ADP91401 ADP91402 ADP91403 ADP91404 ADP91405 ADP91406 ADP91407 ADP91408 ADP91409 ADP91410 ADP91411 ADP91412 ADP91413 ADP91414 ADP91415 ADP91416 ADP91417 ADP91418 ADP91419 ADP91420 ADP91421 ADP91422 ADP91423 ADP91424 ADP91425 ADP91426 ADP91427 ADP91428 ADP91429 ADP91430 ADP91431 ADP91432 ADP91433 ADP91434 ADP91435 ADP91436 ADP91437 ADP91438 ADP91439 ADP91440 ADP91441 ADP91442 ADP91443 ADP91444 ADP91445 ADP91446 ADP91447 ADP91448 ADP91449 ADP91450 ADP91451 ADP91452 ADP91453 ADP91454 ADP91455 ADP91456 ADP91457 ADP91458 ADP91459 ADP91460 ADP91461 ADP91462 ADP91463 ADP91464 ADP91465 ADP91466 ADP91467 ADP91468 ADP91469 ADP91470 ADP91471 ADP91472 ADP91473 ADP91474 ADP91475 ADP91476 ADP91477 ADP91478 ADP91479 ADP91480 ADP91481 ADP91482 ADP91483 ADP91484 ADP91485 ADP91486 ADP91487 ADP91488 ADP91489 ADP91490 ADP91491 ADP91492 ADP91493 AHW56467 AHW56468 BAD92600 EAW57380 EAW57382 EAW57385

RNA Seq Atlas

1760