DMPK

DM1 protein kinase | DM1PK, DMK, MDPK, MT-PK, DM, DM1

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]

Developmental clusters: GC6

Biological processes 35 terms

ATP binding (GO:0005524)ATP binding (GO:0005524)cytosol (GO:0005829)cytosol (GO:0005829)endoplasmic reticulum membrane (GO:0005789)endoplasmic reticulum membrane (GO:0005789)intracellular calcium ion homeostasis (GO:0006874)intracellular calcium ion homeostasis (GO:0006874)mitochondrial membrane (GO:0031966)mitochondrial outer membrane (GO:0005741)mitochondrial outer membrane (GO:0005741)muscle cell apoptotic process (GO:0010657)myosin phosphatase regulator activity (GO:0017020)nuclear envelope organization (GO:0006998)nuclear envelope organization (GO:0006998)nuclear envelope organization (GO:0006998)nuclear membrane (GO:0031965)nuclear outer membrane (GO:0005640)plasma membrane (GO:0005886)plasma membrane (GO:0005886)protein binding (GO:0005515)protein kinase activity (GO:0004672)protein phosphorylation (GO:0006468)protein serine kinase activity (GO:0106310)protein serine/threonine kinase activity (GO:0004674)protein serine/threonine kinase activity (GO:0004674)protein serine/threonine kinase activity (GO:0004674)regulation of heart contraction (GO:0008016)regulation of heart contraction (GO:0008016)regulation of heart contraction (GO:0008016)regulation of myotube differentiation (GO:0010830)regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)sarcoplasmic reticulum membrane (GO:0033017)sarcoplasmic reticulum membrane (GO:0033017)sarcoplasmic reticulum membrane (GO:0033017)

Expression (TPM)

TFs regulating DMPK 0 TFs

Transcription factors with Perturb-seq knockdown data for DMPK. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = DMPK upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

TF	Mean coef	Binding	Outlier	TF→Gene link

Rows:

Elements linked to DMPK

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of DMPK, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Element	Dist. to TSS	Link type	TFs
chr19:45,485,144–45,486,070	294.1 kb	Distal (>10kb) Multiome	659
chr19:45,492,647–45,493,344	286.7 kb	Distal (>10kb) Multiome	522
chr19:45,496,247–45,497,677	282.6 kb	Distal (>10kb) Multiome	742
chr19:45,498,270–45,499,916	280.1 kb	Distal (>10kb) Multiome	464
chr19:45,506,243–45,507,963	272.9 kb	Distal (>10kb) Multiome	969
chr19:45,508,291–45,509,751	271.0 kb	Distal (>10kb) Multiome	670
chr19:45,528,315–45,529,353	250.8 kb	Distal (>10kb) Multiome	425
chr19:45,584,026–45,585,251	195.0 kb	Distal (>10kb) Multiome	907
chr19:45,607,096–45,607,695	172.2 kb	Distal (>10kb) Multiome	526
chr19:45,615,654–45,616,944	163.5 kb	Distal (>10kb) Multiome	480
chr19:45,632,406–45,633,148	146.9 kb	Distal (>10kb) Multiome	358
chr19:45,638,965–45,639,696	140.3 kb	Distal (>10kb) Multiome	477
chr19:45,640,813–45,642,557	137.3 kb	Distal (>10kb) Multiome	865
chr19:45,643,187–45,644,012	136.0 kb	Distal (>10kb) Multiome	542
chr19:45,645,389–45,646,343	133.7 kb	Distal (>10kb) Multiome	566
chr19:45,667,856–45,668,417	111.6 kb	Distal (>10kb) Multiome	386
chr19:45,668,914–45,669,719	110.3 kb	Distal (>10kb) Multiome	611
chr19:45,670,481–45,671,446	108.6 kb	Distal (>10kb) Multiome	361
chr19:45,676,875–45,678,209	102.1 kb	Distal (>10kb) Multiome	418
chr19:45,681,530–45,682,004	97.9 kb	Distal (>10kb) Multiome	648
chr19:45,691,622–45,693,062	87.2 kb	Distal (>10kb) Multiome	943
chr19:45,716,851–45,718,343	62.1 kb	Distal (>10kb) Multiome	895
chr19:45,730,200–45,731,219	48.6 kb	Distal (>10kb) Multiome	740
chr19:45,767,223–45,771,892	10.2 kb	Distal (>10kb) Multiome	1161
chr19:45,774,843–45,775,055	4.6 kb	Proximal (<10kb)	76
chr19:45,779,258–45,780,150	8 bp	At TSS Multiome	445
chr19:45,792,338–45,793,273	13.3 kb	Distal (>10kb) Multiome	609
chr19:45,815,484–45,818,073	36.3 kb	Distal (>10kb) Multiome	623
chr19:45,862,559–45,864,765	84.8 kb	Distal (>10kb) Multiome	976
chr19:45,881,480–45,883,645	102.5 kb	Distal (>10kb) Multiome	990
chr19:45,885,092–45,887,294	107.1 kb	Distal (>10kb) Multiome	913
chr19:45,901,212–45,903,471	123.2 kb	Distal (>10kb) Multiome	780
chr19:45,952,967–45,953,485	173.4 kb	Distal (>10kb) Multiome	329
chr19:45,973,761–45,974,227	194.4 kb	Distal (>10kb) Multiome	201
chr19:45,994,774–45,995,740	215.7 kb	Distal (>10kb) Multiome	660
chr19:46,014,941–46,015,784	235.8 kb	Distal (>10kb) Multiome	220
chr19:46,016,414–46,017,078	237.3 kb	Distal (>10kb) Multiome	364
chr19:46,076,819–46,077,882	298.0 kb	Distal (>10kb) Multiome	516

Genome Browser

Genomic view of the DMPK locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.