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PDE4DIP (phosphodiesterase 4D interacting protein (myomegalin))

Identity

Other namesCMYA2
KIAA0477
KIAA0454
MMGL
Myomegalin
HGNC (Hugo) PDE4DIP
LocusID (NCBI) 9659
Location 1q21.1
Location_base_pair Starts at 144951761 and ends at 144995033 bp from pter ( according to hg19-Feb_2009)  [Mapping]

DNA/RNA

Transcription Various splicing forms, in particular KIAA0477 and KIAA0454

Protein

Note The protein encoded by PDE4DIP is called myomegalin
Description Large protein; some isoforms having more than 2300 aminoacids (62 kDa and 230-250 kDa proteins in the rat ortholog); mainly composed of alpha-helical and coiled-coil structures; includes a leucine zipper in N-term, a dynactin-centractin binding domain, and a helix-loop-helix.
Expression in heart and skeletal muscles; little expression in other tissues
Localisation Cytoplasm in the Golgi/centrosomal area in non muscle cells and nucleus; in the sarcomeres of muscle cells
Function Interacts with the cyclic nucleotide phosphodiesterase PDE4D, enzymes that degrade and inactivate cAMP; may oligomerize
Homology With the Drosophila centrosomin (a component of the centrosome and the mitotic spindle)

Implicated in

Entity t(1;5)(q22;q33) in chronic eosinophilic leukemia --> PDE4DIP - PDGFRB
Note KIAA0477 isoforms was found involved in the hybrid gene / fusion protein.
Disease Rare disease mainly found in infants.
Prognosis Treatment with imatinib may be relevant.
  

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615

External links

Nomenclature
HGNC (Hugo)PDE4DIP   15580
Cards
AtlasPDE4DIP01q22ID180
Entrez_Gene (NCBI)PDE4DIP  9659  phosphodiesterase 4D interacting protein
GeneCards (Weizmann)PDE4DIP
Ensembl (Hinxton)ENSG00000178104 [Gene_View]  chr1:144951761-144995033 [Contig_View]  PDE4DIP [Vega]
ICGC DataPortalENSG00000178104
AceView (NCBI)PDE4DIP
Genatlas (Paris)PDE4DIP
WikiGenes9659
SOURCE (Princeton)NM_001002810 NM_001002811 NM_001002812 NM_001195260 NM_001195261 NM_001198832 NM_001198834 NM_014644 NM_022359
Genomic and cartography
GoldenPath (UCSC)PDE4DIP  -  1q21.1   chr1:144951761-144995033 -  1q21.1   [Description]    (hg19-Feb_2009)
EnsemblPDE4DIP - 1q21.1 [CytoView]
Mapping of homologs : NCBIPDE4DIP [Mapview]
OMIM608117   
Gene and transcription
Genbank (Entrez)AA025132 AA707296 AB007923 AB007946 AB042555
RefSeq transcript (Entrez)NM_001002810 NM_001002811 NM_001002812 NM_001195260 NM_001195261 NM_001198832 NM_001198834 NM_014644 NM_022359
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_027693 NT_004487 NW_001838510 NW_001838630 NW_001838632 NW_001838635 NW_001838641 NW_004929293
Consensus coding sequences : CCDS (NCBI)PDE4DIP
Cluster EST : UnigeneHs.731111 [ NCBI ]
CGAP (NCI)Hs.731111
Alternative Splicing : Fast-db (Paris)GSHG0002438
Alternative Splicing GalleryENSG00000178104
Gene ExpressionPDE4DIP [ NCBI-GEO ]     PDE4DIP [ SEEK ]   PDE4DIP [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5VU43 (Uniprot)
NextProtQ5VU43  [Medical]
With graphics : InterProQ5VU43
Splice isoforms : SwissVarQ5VU43 (Swissvar)
Domaine pattern : Prosite (Expaxy)NBPF (PS51316)   
Domains : Interpro (EBI)NBPF_dom    Spindle_assoc   
Related proteins : CluSTrQ5VU43
Domain families : Pfam (Sanger)DUF1220 (PF06758)    Microtub_assoc (PF07989)   
Domain families : Pfam (NCBI)pfam06758    pfam07989   
DMDM Disease mutations9659
Blocks (Seattle)Q5VU43
Human Protein AtlasENSG00000178104
Peptide AtlasQ5VU43
HPRD10482
IPIIPI00470939   IPI00869196   IPI00479644   IPI00337544   IPI00456484   IPI00642902   IPI00869114   IPI00643207   IPI00401276   IPI00868730   IPI00376888   IPI00982145   IPI00455448   IPI00979642   IPI00152241   IPI00977575   IPI00980240   IPI00975830   IPI00978568   IPI00976851   IPI00741084   IPI00976529   IPI00869124   IPI00982999   IPI00980385   IPI00975860   IPI00979020   IPI00983681   IPI00979892   IPI00984416   IPI00983066   IPI00982262   IPI00981690   
Protein Interaction databases
DIP (DOE-UCLA)Q5VU43
IntAct (EBI)Q5VU43
FunCoupENSG00000178104
BioGRIDPDE4DIP
IntegromeDBPDE4DIP
STRING (EMBL)PDE4DIP
Ontologies - Pathways
QuickGOQ5VU43
Ontology : AmiGOprotein binding  nucleus  cytoplasm  Golgi apparatus  centrosome  centrosome  enzyme binding  myofibril  cellular protein complex assembly  
Ontology : EGO-EBIprotein binding  nucleus  cytoplasm  Golgi apparatus  centrosome  centrosome  enzyme binding  myofibril  cellular protein complex assembly  
Protein Interaction DatabasePDE4DIP
Wikipedia pathwaysPDE4DIP
Gene fusion - rearrangments
Rearrangement : TICdbPDE4DIP [1q21.1]  -  PDGFRB [11p13]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)PDE4DIP
SNP (GeneSNP Utah)PDE4DIP
SNP : HGBasePDE4DIP
Genetic variants : HAPMAPPDE4DIP
1000_GenomesPDE4DIP 
ICGC programENSG00000178104 
Cancer Gene: CensusPDE4DIP 
CONAN: Copy Number AnalysisPDE4DIP 
Somatic Mutations in Cancer : COSMICPDE4DIP 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
DECIPHER (Syndromes)1:144951761-144995033
Mutations and Diseases : HGMDPDE4DIP
OMIM608117   
MedgenPDE4DIP
GENETestsPDE4DIP
Disease Genetic AssociationPDE4DIP
Huge Navigator PDE4DIP [HugePedia]  PDE4DIP [HugeCancerGEM]
Genomic VariantsPDE4DIP  PDE4DIP [DGVbeta]
Exome VariantPDE4DIP
dbVarPDE4DIP
ClinVarPDE4DIP
snp3D : Map Gene to Disease9659
General knowledge
Homologs : HomoloGenePDE4DIP
Homology/Alignments : Family Browser (UCSC)PDE4DIP
Phylogenetic Trees/Animal Genes : TreeFamPDE4DIP
Chemical/Protein Interactions : CTD9659
Chemical/Pharm GKB GenePA33131
Clinical trialPDE4DIP
Cancer Resource (Charite)ENSG00000178104
Other databases
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
CoreMinePDE4DIP
GoPubMedPDE4DIP
iHOPPDE4DIP

Bibliography

Myomegalin is a novel protein of the golgi/centrosome that interacts with a cyclic nucleotide phosphodiesterase.
Verde I, Pahlke G, Salanova M, Zhang G, Wang S, Coletti D, Onuffer J, Jin SL, Conti M
The Journal of biological chemistry. 2001 ; 276 (14) : 11189-11198.
PMID 11134006
 
Isolation of novel heart-specific genes using the BodyMap database.
Soejima H, Kawamoto S, Akai J, Miyoshi O, Arai Y, Morohka T, Matsuo S, Niikawa N, Kimura A, Okubo K, Mukai T
Genomics. 2001 ; 74 (1) : 115-120.
PMID 11374908
 
Cloning of the t(1;5)(q23;q33) in a myeloproliferative disorder associated with eosinophilia: involvement of PDGFRB and response to imatinib.
Wilkinson K, Velloso ER, Lopes LF, Lee C, Aster JC, Shipp MA, Aguiar RC
Blood. 2003 ; 102 (12) : 4187-4190.
PMID 12907457
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written05-2006Jean Loup Huret

Citation

This paper should be referenced as such :
Huret, JL
PDE4DIP (phosphodiesterase 4D interacting protein (myomegalin))
Atlas Genet Cytogenet Oncol Haematol. 2006;10(4):227-227.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/PDE4DIP01q22ID180.html

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indexed on : Sat Nov 8 16:54:34 CET 2014

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