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PDE4DIP (phosphodiesterase 4D interacting protein (myomegalin))

Identity

Other namesCMYA2
KIAA0477
KIAA0454
MMGL
Myomegalin
HGNC (Hugo) PDE4DIP
Location 1q22
Location_base_pair Starts at 143663118 and ends at 143706379 bp from pter ( according to hg18-Mar_2006)  [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.
  

External links

Nomenclature
HGNC (Hugo)PDE4DIP   15580
Entrez_Gene (NCBI)PDE4DIP  9659  phosphodiesterase 4D interacting protein
Cards
AtlasPDE4DIP01q22ID180
GeneCards (Weizmann)PDE4DIP
Ensembl (Hinxton)ENSG00000178104 [Gene_View]  PDE4DIP [Vega]
AceView (NCBI)PDE4DIP
Genatlas (Paris)PDE4DIP
euGene (Indiana)9659
SOURCE (Stanford)NM_001002810 NM_001002811 NM_001002812 NM_014644 NM_022359
Gene Expression (Array Express) ENSG00000178104
Genomic and cartography
GoldenPath (UCSC)PDE4DIP  -  1q22   chr1:143663118-143706379 -  1q12   [Description]    (hg18-Mar_2006)
EnsemblPDE4DIP - 1q12 [CytoView]
Mapping of homologs : NCBIPDE4DIP [Mapview]
OMIM608117   
Gene and transcription
Gene : Genbank (Entrez)AA707296 AB007923 AB007946 AB042555 AB042556
Reference sequence (RefSeq transcript) :SRSNM_001002810 NM_001002811 NM_001002812 NM_014644 NM_022359
Reference transcript : EntrezNM_001002810 NM_001002811 NM_001002812 NM_014644 NM_022359
RefSeq genomic : SRSAC_000044 AC_000133 NC_000001 NT_167185 NW_001838510 NW_001838627 NW_001838628 NW_001838630 NW_001838631 NW_001838635 NW_001840535 NW_001841887 NW_924414 NW_924795 NW_925174 NW_926297 NW_926625 NW_927347 NW_927653
RefSeq genomic : EntrezAC_000044 AC_000133 NC_000001 NT_167185 NW_001838510 NW_001838627 NW_001838628 NW_001838630 NW_001838631 NW_001838635 NW_001840535 NW_001841887 NW_924414 NW_924795 NW_925174 NW_926297 NW_926625 NW_927347 NW_927653
Consensus coding sequences : CCDS NCBIPDE4DIP
Cluster EST : UnigeneHs.657490 [ SRS ] Hs.657490 [ NCBI ]
Alternative Splicing : Fast-db (Paris)17184
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ5VU43 (SRS) Q5VU43 (Expasy) Q5VU43 (Uniprot)
With graphics : InterProQ5VU43
Splice isoforms : VarSplice FASTAQ5VU43(VarSplice FASTA)
Domaine pattern : Prosite (SRS)NBPF (PS51316)   
Domain pattern : Prosite (Expaxy)NBPF (PS51316)   
Domains : Interpro (SRS)NBPF_rpt    Spindle_assoc   
Domains : Interpro (EBI)NBPF_rpt    Spindle_assoc   
Related proteins : CluSTrQ5VU43
Domain families : Pfam SRSDUF1220 (PF06758)    Microtub_assoc (PF07989)   
Domain families : Pfam SangerDUF1220 (PF06758)    Microtub_assoc (PF07989)   
Domain families : Pfam NCBIpfam06758    pfam07989   
Blocks (Seattle)Q5VU43
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD10482
Protein Interaction databases
DIP (DOE-UCLA)Q5VU43
IntAct (EBI)Q5VU43
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIPDE4DIP
SNP : GeneSNP UtahPDE4DIP
SNP : HGBasePDE4DIP
Genetic variants : HAPMAPPDE4DIP
Cancer Gene: CensusPDE4DIP 
Somatic Mutations in Cancer : COSMICPDE4DIP 
Translocation Breakpoints in Cancer : TICdbPDE4DIP 
Mutations and Diseases : HGMDPDE4DIP
Hereditary diseases : OMIM608117   
Hereditary diseases : GENETests608117   
Diseases : Genetic AssociationPDE4DIP
General knowledge
Homologs : HomoloGenePDE4DIP
Homology/Alignments : Family Browser UCSCPDE4DIP
Phylogenetic Trees/Animal Genes : TreeFamPDE4DIP
Chemical/Protein Interactions : CTD9659
Keywords Ontology : AmiGOnucleus  cytoplasm  Golgi apparatus  centrosome  cytoskeleton  
Keywords Ontology : EGO-EBInucleus  cytoplasm  Golgi apparatus  centrosome  cytoskeleton  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesPDE4DIP Related clones (RZPD - Berlin)
Literature
PubMed11 Pubmed reference(s) in Entrez
PubGenePDE4DIP

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. May 2006 .
URL : http://AtlasGeneticsOncology.org/Genes/PDE4DIP01q22ID180.html

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indexed on : Sat Feb 27 10:53:19 CET 2010

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