Bos taurus Gene: DMPK
Summary
InnateDB Gene IDBG-639646.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DMPK
Gene Name Uncharacterized protein
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000013347
Encoded Proteins
dystrophia myotonica-protein kinase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000104936:
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 18:53760689-53769611
Strand Reverse strand
Band
Transcripts
ENSBTAT00000017759 ENSBTAP00000017759
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 18 interaction(s) predicted by orthology.
Predicted by orthology
Total 18 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
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:0016301 kinase activity
GO:0016740 transferase activity
GO:0016772 transferase activity, transferring phosphorus-containing groups
GO:0017020 myosin phosphatase regulator activity
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:0016310 phosphorylation
GO:0050790 regulation of catalytic activity
GO:0051823 regulation of synapse structural plasticity
Cellular Component
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0031307 integral component of mitochondrial outer membrane
GO:0031965 nuclear membrane
GO:0033017 sarcoplasmic reticulum membrane
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
Cross-References
SwissProt
TrEMBL E1BAC4
UniProt Splice Variant
Entrez Gene 513675
UniGene Bt.111008
RefSeq XM_002695096 XM_002701894 XM_005195351 XM_005219436
HUGO HGNC:2933
OMIM
CCDS
HPRD
IMGT
EMBL DAAA02047383
GenPept
RNA Seq Atlas 513675