PUBLICATION
The Popeye domain containing gene family encoding a family of cAMP-effector proteins with important functions in striated muscle and beyond
- Authors
- Swan, A.H., Gruscheski, L., Boland, L.A., Brand, T.
- ID
- ZDB-PUB-190615-7
- Date
- 2019
- Source
- Journal of muscle research and cell motility 40(2): 169-183 (Review)
- Registered Authors
- Brand, Thomas
- Keywords
- Atrioventricular block, Limb-girdle muscular dystrophy, Membrane trafficking, Popeye domain containing genes, Sinus node disease, Tumour suppressor, cAMP
- MeSH Terms
-
- Animals
- Arrhythmias, Cardiac/genetics
- Arrhythmias, Cardiac/metabolism
- Cell Adhesion Molecules*/genetics
- Cell Adhesion Molecules*/metabolism
- Cyclic AMP*/genetics
- Cyclic AMP*/metabolism
- Humans
- Mice
- Multigene Family
- Muscle Proteins*/genetics
- Muscle Proteins*/metabolism
- Muscle, Striated/metabolism*
- Muscular Dystrophies/genetics
- Muscular Dystrophies/metabolism
- Mutation
- Proto-Oncogene Proteins c-myc
- Second Messenger Systems*
- Tumor Suppressor Proteins/genetics
- Tumor Suppressor Proteins/metabolism
- Wnt Signaling Pathway*
- Zebrafish
- PubMed
- 31197601 Full text @ J. Muscle Res. Cell Motil.
Citation
Swan, A.H., Gruscheski, L., Boland, L.A., Brand, T. (2019) The Popeye domain containing gene family encoding a family of cAMP-effector proteins with important functions in striated muscle and beyond. Journal of muscle research and cell motility. 40(2):169-183.
Abstract
The Popeye domain containing (POPDC) gene family encodes a novel class of membrane-bound cyclic AMP effector proteins. POPDC proteins are abundantly expressed in cardiac and skeletal muscle. Consistent with its predominant expression in striated muscle, Popdc1 and Popdc2 null mutants in mouse and zebrafish develop cardiac arrhythmia and muscular dystrophy. Likewise, mutations in POPDC genes in patients have been associated with cardiac arrhythmia and muscular dystrophy phenotypes. A membrane trafficking function has been identified in this context. POPDC proteins have also been linked to tumour formation. Here, POPDC1 plays a role as a tumour suppressor by limiting c-Myc and WNT signalling. Currently, a common functional link between POPDC's role in striated muscle and as a tumour suppressor is lacking. We also discuss several alternative working models to better understand POPDC protein function.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping