QuickView for DMPK (gene)

Gene Symbol:

DMPK Homo sapiens

Full name:

DM1 protein kinase

Synonyms:

DM, DM1, DM1PK, DMK, MDPK, MT-PK, myotonin-protein kinase, DM protein kinase, dystrophia myotonica protein kinase, myotonic dystrophy associated protein kinase, myotonin protein kinase A, thymopoietin homolog

Genomic Location:

Chr 19: 50964815-50977655

Description:

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 t...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

E12_Q6 ,  FREAC7_01 ,  SMTTTTGT_UNKNOWN ,  MAZR_01 ,  TGANTCA_AP1_C ,  AREB6_02 ,  YTATTTTNR_MEF2_02 ,  SRF_Q6 ,  SMAD3_Q6 ,  GCANCTGNY_MYOD_Q6 ,  LYF1_01 ,  AP1_Q6 ,  AP2ALPHA_01 ,  TGACCTY_ERR1_Q2 ,  OSF2_Q6 ,  GGGAGGRR_MAZ_Q6 ,  TATAAA_TATA_01 ,  AP1_Q6_01 ,  ACATTCC_MIR1_MIR206 ,  CCTGTGA_MIR513 ,  GGATTA_PITX2_Q2 ,  LFA1_Q6 ,  CAGGTG_E12_Q6 ,  E47_02 ,  AP2_Q6_01 ,  MYOD_Q6 ,  CCCNNGGGAR_OLF1_01 ,  GCCNNNWTAAR_UNKNOWN ,  RNGTGGGC_UNKNOWN ,  WGGAATGY_TEF1_Q6 ,  MYOGENIN_Q6 ,  AFP1_Q6 ,  WWTAAGGC_UNKNOWN ,  ARGGGTTAA_UNKNOWN ,  TATA_01 ,  TBP_01 ,  CAGCTG_AP4_Q5 ,  MMEF2_Q6 ,  TCCCCAC_MIR491 ,  CRX_Q4 ,  SRF_C ,  GGGTGGRR_PAX4_03

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-1 ,  Predicted Gene Targets for miR-491

Cytogenetic Map:

19q13.32

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