PDE4D ist ein Gen, das durch das Symbol PDE4D kodiert wird. Im Allgemeinen auch bezeichnet als: cAMP-specific 3',5'-cyclic phosphodiesterase 4D; DPDE3; PDE43. PDE4D hat eine Masse von 91.12kDa, eine Aminosäurelänge von 809, und ist an Acrodysostosis 2, with or without hormone resistance beteiligt.
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Gen- und Proteininformationen
UniProt Zusammenfassung
Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes.
Entrez Zusammenfassung
This gene encodes one of four mammalian counterparts to the fruit fly 'dunce' gene. The encoded protein has 3',5'-cyclic-AMP phosphodiesterase activity and degrades cAMP, which acts as a signal transduction molecule in multiple cell types. This gene uses different promoters to generate multiple alternatively spliced transcript variants that encode functional proteins.
Gewebespezifität
Expressed in colonic epithelial cells (at protein level). Widespread; most abundant in skeletal muscle. Isoform 6 is detected in brain. Isoform 8 is detected in brain, placenta, lung and kidney. Isoform 7 is detected in heart and skeletal muscle.
Rolle bei Krankheiten
Acrodysostosis 2, with or without hormone resistance: A pleiotropic disorder characterized by skeletal, endocrine, and neurological abnormalities. Skeletal features include brachycephaly, midface hypoplasia with a small upturned nose, brachydactyly, and lumbar spinal stenosis. Endocrine abnormalities include hypothyroidism and hypogonadism in males and irregular menses in females. Developmental disability is a common finding but is variable in severity and can be associated with significant behavioral problems.
Sequenzähnlichkeiten
Belongs to the cyclic nucleotide phosphodiesterase family. PDE4 subfamily.
Posttranslationale Modifikation
Long isoforms that share a conserved PKA phosphorylation site in the N-terminus are activated by PKA through phosphorylation (By similarity). Isoform 3 and isoform 7 are activated by phosphorylation (in vitro), but not isoform 6. Isoform N3 and isoform 12 are phosphorylated on Ser-49, Ser-51, Ser-55 and Ser-59.
Zellort
Apical cell membrane. Cytoplasm. Membrane. Cytoplasm > Cytoskeleton. Cytoplasm > Cytoskeleton > Microtubule organizing center > Centrosome.
Found in the soluble fraction, associated with membranes, and associated with the cytoskeleton and the centrosome (By similarity). Colocalized with SHANK2 to the apical membrane of colonic crypt cells.
