PDE4DIP (phosphodiesterase 4D interacting protein (myomegalin))
2006-05-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France
DNA/RNA
Transcription
Various splicing forms, in particular KIAA0477 and KIAA0454
Proteins
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 name
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.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11374908 | 2001 | Isolation of novel heart-specific genes using the BodyMap database. | Soejima H et al |
| 11134006 | 2001 | Myomegalin is a novel protein of the golgi/centrosome that interacts with a cyclic nucleotide phosphodiesterase. | Verde I et al |
| 12907457 | 2003 | Cloning of the t(1;5)(q23;q33) in a myeloproliferative disorder associated with eosinophilia: involvement of PDGFRB and response to imatinib. | Wilkinson K et al |
Other Information
Locus ID:
NCBI: 9659
MIM: 608117
HGNC: 15580
Ensembl: ENSG00000178104
Variants:
dbSNP: 9659
ClinVar: 9659
TCGA: ENSG00000178104
COSMIC: PDE4DIP
RNA/Proteins
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37355626 | 2023 | PDE4DIP contributes to colorectal cancer growth and chemoresistance through modulation of the NF1/RAS signaling axis. | 1 |
| 37355626 | 2023 | PDE4DIP contributes to colorectal cancer growth and chemoresistance through modulation of the NF1/RAS signaling axis. | 1 |
| 34260267 | 2021 | Myomegalin regulates Hedgehog pathway by controlling PDE4D at the centrosome. | 6 |
| 34289528 | 2021 | Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction. | 8 |
| 34260267 | 2021 | Myomegalin regulates Hedgehog pathway by controlling PDE4D at the centrosome. | 6 |
| 34289528 | 2021 | Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction. | 8 |
| 32471155 | 2020 | Bioinformatic Analysis Reveals Phosphodiesterase 4D-Interacting Protein as a Key Frontal Cortex Dementia Switch Gene. | 10 |
| 32471155 | 2020 | Bioinformatic Analysis Reveals Phosphodiesterase 4D-Interacting Protein as a Key Frontal Cortex Dementia Switch Gene. | 10 |
| 30030436 | 2018 | Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma. | 29 |
| 30030436 | 2018 | Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma. | 29 |
| 29162697 | 2017 | EB1-binding-myomegalin protein complex promotes centrosomal microtubules functions. | 19 |
| 29162697 | 2017 | EB1-binding-myomegalin protein complex promotes centrosomal microtubules functions. | 19 |
| 25961151 | 2015 | Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project. | 27 |
| 25961151 | 2015 | Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project. | 27 |
| 21767579 | 2011 | Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina. | 24 |
Citation
Jean-Loup Huret
PDE4DIP (phosphodiesterase 4D interacting protein (myomegalin))
Atlas Genet Cytogenet Oncol Haematol. 2006-05-01
Online version: http://atlasgeneticsoncology.org/gene/180/pde4dip
