| | E2F5 (8q21.2)::PDE4DIP (1q21.1) | EFTUD2 (17q21.31)::PDE4DIP (1q21.1) | KCNK5 (6p21.2)::PDE4DIP (1q21.1) |
| |
MPZL1 (1q24.2)::PDE4DIP (1q21.1) | PDE4DIP (1q21.1)::C1orf186 (1q32.1) | PDE4DIP (1q21.1)::PDGFRB (5q32) |
| |
PDE4DIP (1q21.1)::TTC28 (22q12.1) | PDGFRB (5q32)::PDE4DIP (1q21.1) | TRPS1 (8q23.3)::PDE4DIP (1q21.1) |
| |
VANGL2 (1q23.2)::PDE4DIP (1q21.1) |
| 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) |
| 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 |
| |
| 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 |
| |
| 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 |
| |
