PUBLICATION
The Popeye Domain Containing Genes and Their Function as cAMP Effector Proteins in Striated Muscle
- Authors
- Brand, T.
- ID
- ZDB-PUB-180314-9
- Date
- 2018
- Source
- Journal of cardiovascular development and disease 5(1): (Review)
- Registered Authors
- Brand, Thomas
- Keywords
- Popeye domain, atrioventricular block, cAMP binding, cardiac arrhythmia, effector protein, limb-girdle muscular dystrophy
- MeSH Terms
- none
- PubMed
- 29534001 Full text @ J Cardiovasc Dev Dis
Citation
Brand, T. (2018) The Popeye Domain Containing Genes and Their Function as cAMP Effector Proteins in Striated Muscle. Journal of cardiovascular development and disease. 5(1).
Abstract
The Popeye domain containing (POPDC) genes encode transmembrane proteins, which are abundantly expressed in striated muscle cells. Hallmarks of the POPDC proteins are the presence of three transmembrane domains and the Popeye domain, which makes up a large part of the cytoplasmic portion of the protein and functions as a cAMP-binding domain. Interestingly, despite the prediction of structural similarity between the Popeye domain and other cAMP binding domains, at the protein sequence level they strongly differ from each other suggesting an independent evolutionary origin of POPDC proteins. Loss-of-function experiments in zebrafish and mouse established an important role of POPDC proteins for cardiac conduction and heart rate adaptation after stress. Loss-of function mutations in patients have been associated with limb-girdle muscular dystrophy and AV-block. These data suggest an important role of these proteins in the maintenance of structure and function of striated muscle cells.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping