Atlas of Genetics and Cytogenetics in Oncology and Haematology


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DMPK (dystrophia myotonica-protein kinase)

Identity

Other namesDM
DM1
DM1PK
DMK
MDPK
MT-PK
HGNC (Hugo) DMPK
LocusID (NCBI) 1760
Location 19q13.32
Location_base_pair Starts at 46272967 and ends at 46285815 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)DMPK   2933
Cards
Entrez_Gene (NCBI)DMPK  1760  dystrophia myotonica-protein kinase
GeneCards (Weizmann)DMPK
Ensembl (Hinxton)ENSG00000104936 [Gene_View]  chr19:46272967-46285815 [Contig_View]  DMPK [Vega]
ICGC DataPortalENSG00000104936
cBioPortalDMPK
AceView (NCBI)DMPK
Genatlas (Paris)DMPK
WikiGenes1760
SOURCE (Princeton)NM_001081560 NM_001081562 NM_001081563 NM_001288764 NM_001288765 NM_001288766 NM_004409
Genomic and cartography
GoldenPath (UCSC)DMPK  -  19q13.32   chr19:46272967-46285815 -  19q13.32   [Description]    (hg19-Feb_2009)
EnsemblDMPK - 19q13.32 [CytoView]
Mapping of homologs : NCBIDMPK [Mapview]
OMIM160900   605377   
Gene and transcription
Genbank (Entrez)AB209363 AK297299 AK302874 AK304749 AV655848
RefSeq transcript (Entrez)NM_001081560 NM_001081562 NM_001081563 NM_001288764 NM_001288765 NM_001288766 NM_004409
RefSeq genomic (Entrez)AC_000151 NC_000019 NC_018930 NG_009784 NT_011109 NW_001838496 NW_004929415
Consensus coding sequences : CCDS (NCBI)DMPK
Cluster EST : UnigeneHs.631596 [ NCBI ]
CGAP (NCI)Hs.631596
Alternative Splicing : Fast-db (Paris)GSHG0015921
Alternative Splicing GalleryENSG00000104936
Gene ExpressionDMPK [ NCBI-GEO ]     DMPK [ SEEK ]   DMPK [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ09013 (Uniprot)
NextProtQ09013  [Medical]
With graphics : InterProQ09013
Splice isoforms : SwissVarQ09013 (Swissvar)
Catalytic activity : Enzyme2.7.11.1 [ Enzyme-Expasy ]   2.7.11.12.7.11.1 [ IntEnz-EBI ]   2.7.11.1 [ BRENDA ]   2.7.11.1 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)AGC_KINASE_CTER (PS51285)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)AGC-kinase_C [organisation]   Kinase-like_dom [organisation]   Myotonic_dystrophy_kinase_coil [organisation]   Prot_kinase_dom [organisation]   Protein_kinase_ATP_BS [organisation]   Ser/Thr_dual-sp_kinase_dom [organisation]   Ser/Thr_kinase_AS [organisation]  
Related proteins : CluSTrQ09013
Domain families : Pfam (Sanger)DMPK_coil (PF08826)    Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam08826    pfam00069   
Domain families : Smart (EMBL)S_TK_X (SM00133)  S_TKc (SM00220)  
Domain structure : Prodom (Prabi Lyon)Myotonic_dystrophy_kinase_coil (PD011252)   
DMDM Disease mutations1760
Blocks (Seattle)Q09013
PDB (SRS)1WT6    2VD5   
PDB (PDBSum)1WT6    2VD5   
PDB (IMB)1WT6    2VD5   
PDB (RSDB)1WT6    2VD5   
Human Protein AtlasENSG00000104936 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ09013
HPRD05645
IPIIPI00305254   IPI00215958   IPI00418464   IPI01011451   IPI00790469   IPI00555911   IPI00855901   IPI00220439   IPI00220440   IPI00220441   IPI00220442   IPI00220443   IPI00644326   IPI00215962   IPI00872095   IPI01010510   
Protein Interaction databases
DIP (DOE-UCLA)Q09013
IntAct (EBI)Q09013
FunCoupENSG00000104936
BioGRIDDMPK
InParanoidQ09013
Interologous Interaction database Q09013
IntegromeDBDMPK
STRING (EMBL)DMPK
Ontologies - Pathways
Ontology : AmiGOregulation of sodium ion transport  protein serine/threonine kinase activity  protein binding  ATP binding  nuclear outer membrane  endoplasmic reticulum membrane  cytosol  plasma membrane  protein phosphorylation  cellular calcium ion homeostasis  nuclear envelope organization  regulation of heart contraction  muscle cell apoptotic process  regulation of myotube differentiation  regulation of skeletal muscle contraction by calcium ion signaling  regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction  myosin phosphatase regulator activity  heat shock protein binding  integral component of mitochondrial outer membrane  nuclear membrane  sarcoplasmic reticulum membrane  metal ion binding  regulation of catalytic activity  regulation of synapse structural plasticity  
Ontology : EGO-EBIregulation of sodium ion transport  protein serine/threonine kinase activity  protein binding  ATP binding  nuclear outer membrane  endoplasmic reticulum membrane  cytosol  plasma membrane  protein phosphorylation  cellular calcium ion homeostasis  nuclear envelope organization  regulation of heart contraction  muscle cell apoptotic process  regulation of myotube differentiation  regulation of skeletal muscle contraction by calcium ion signaling  regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction  myosin phosphatase regulator activity  heat shock protein binding  integral component of mitochondrial outer membrane  nuclear membrane  sarcoplasmic reticulum membrane  metal ion binding  regulation of catalytic activity  regulation of synapse structural plasticity  
Protein Interaction DatabaseDMPK
Wikipedia pathwaysDMPK
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)DMPK
snp3D : Map Gene to Disease1760
SNP (GeneSNP Utah)DMPK
SNP : HGBaseDMPK
Genetic variants : HAPMAPDMPK
Exome VariantDMPK
1000_GenomesDMPK 
ICGC programENSG00000104936 
Somatic Mutations in Cancer : COSMICDMPK 
CONAN: Copy Number AnalysisDMPK 
Mutations and Diseases : HGMDDMPK
Mutations and Diseases : intOGenDMPK
Genomic VariantsDMPK  DMPK [DGVbeta]
dbVarDMPK
ClinVarDMPK
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM160900    605377   
MedgenDMPK
GENETestsDMPK
Disease Genetic AssociationDMPK
Huge Navigator DMPK [HugePedia]  DMPK [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneDMPK
Homology/Alignments : Family Browser (UCSC)DMPK
Phylogenetic Trees/Animal Genes : TreeFamDMPK
Chemical/Protein Interactions : CTD1760
Chemical/Pharm GKB GenePA27380
Clinical trialDMPK
Cancer Resource (Charite)ENSG00000104936
Other databases
Probes
Litterature
PubMed128 Pubmed reference(s) in Entrez
CoreMineDMPK
iHOPDMPK
OncoSearchDMPK
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:44:40 CEST 2014

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