PDE4DIP (phosphodiesterase 4D interacting protein (myomegalin))

Identity

Other names	CMYA2
	KIAA0477
	KIAA0454
	MMGL
	Myomegalin
HGNC	PDE4DIP
Location	1q22
Location_base_pair	Starts at 143663118 and ends at 143706379 bp from pter (hg18-Mar_2006).

DNA/RNA

Transcription

Various splicing forms, in particular KIAA0477 and KIAA0454

Protein

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	PDE4DIP   15580
Entrez_Gene	PDE4DIP  9659  phosphodiesterase 4D interacting protein
	Cards
Atlas	PDE4DIP01q22ID180
GeneCards	PDE4DIP
Ensembl	PDE4DIP [Search_View]   ENSG00000178104 [Gene_View]
Genatlas	PDE4DIP
GeneLynx	PDE4DIP
eGenome	PDE4DIP
euGene	9659
	Genomic and cartography
GoldenPath	PDE4DIP  -  1q22   chr1:143663118-143706379 -  1q21.1   [Description]    (hg18-Mar_2006)
Ensembl	PDE4DIP - 1q21.1 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	PDE4DIP
	Gene and transcription
Genbank	AA707296 [ ENTREZ ]
Genbank	AB007923 [ ENTREZ ]
Genbank	AB007946 [ ENTREZ ]
Genbank	AB042555 [ ENTREZ ]
Genbank	AB042556 [ ENTREZ ]
RefSeq	NM_001002810 [ SRS ]    NM_001002810 [ ENTREZ ]
RefSeq	NM_001002811 [ SRS ]    NM_001002811 [ ENTREZ ]
RefSeq	NM_001002812 [ SRS ]    NM_001002812 [ ENTREZ ]
RefSeq	NM_014644 [ SRS ]    NM_014644 [ ENTREZ ]
RefSeq	NM_022359 [ SRS ]    NM_022359 [ ENTREZ ]
RefSeq	AC_000044 [ SRS ]    AC_000044 [ ENTREZ ]
RefSeq	NC_000001 [ SRS ]    NC_000001 [ ENTREZ ]
RefSeq	NT_004434 [ SRS ]    NT_004434 [ ENTREZ ]
RefSeq	NW_924795 [ SRS ]    NW_924795 [ ENTREZ ]
AceView	PDE4DIP AceView - NCBI
Unigene	Hs.714290 [ SRS ]    Hs.714290 [ NCBI ]     HS714290 [ spliceNest ]
Fast-db	17184 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q5TB27 [ SRS]    Q5TB27 [ EXPASY ]     Q5TB27 [ INTERPRO ]     Q5TB27 [ UNIPROT ]
CluSTr	Q5TB27
Blocks	Q5TB27
HPRD	10482
	Protein Interaction databases
DIP	Q5TB27
IntAct	Q5TB27
	Polymorphism : SNP, mutations, diseases
OMIM	608117    [ map ]
GENECLINICS	608117
SNP	PDE4DIP [dbSNP-NCBI]
SNP	NM_001002810 [SNP-NCI]
SNP	NM_001002811 [SNP-NCI]
SNP	NM_001002812 [SNP-NCI]
SNP	NM_014644 [SNP-NCI]
SNP	NM_022359 [SNP-NCI]
SNP	PDE4DIP [GeneSNPs - Utah]  PDE4DIP] [HGBASE - SRS]
HAPMAP	PDE4DIP [HAPMAP]
COSMIC	PDE4DIP [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	PDE4DIP [Translocation breakpoints In Cancer]
HGMD	PDE4DIP
	General knowledge
Family Browser	PDE4DIP [UCSC Family Browser]
SOURCE	NM_001002810
SOURCE	NM_001002811
SOURCE	NM_001002812
SOURCE	NM_014644
SOURCE	NM_022359
SMD	Hs.714290
SAGE	Hs.714290
GO	actin binding [Amigo]  actin binding
GO	nucleus [Amigo]  nucleus
GO	cytoplasm [Amigo]  cytoplasm
GO	Golgi apparatus [Amigo]  Golgi apparatus
GO	centrosome [Amigo]  centrosome
GO	cytoskeleton organization and biogenesis [Amigo]  cytoskeleton organization and biogenesis
GO	actin cytoskeleton [Amigo]  actin cytoskeleton
GO	actin cytoskeleton organization and biogenesis [Amigo]  actin cytoskeleton organization and biogenesis
PubGene	PDE4DIP
TreeFam	PDE4DIP
CTD	9659 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	PDE4DIP Related clones (RZPD - Berlin)
	PubMed
PubMed	11 Pubmed reference(s) in Entrez

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 articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	05-2006	Jean 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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sat Oct 11 12:55:09 2008