Bos taurus Gene: DMPK | |||||||||||||||||||||||||
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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
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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] |
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Gene Information | |||||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||||
Genomic Location | Chromosome 18:53760689-53769611 | ||||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||||
Band | |||||||||||||||||||||||||
Transcripts |
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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.
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Gene Ontology | |||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||||
Species
Homo sapiens
Mus musculus
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Gene ID
Gene Order
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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 | ||||||||||||||||||||||||