PDE4D è un gene codificato dal simbolo PDE4D. Comunemente indicato anche come: cAMP-specific 3',5'-cyclic phosphodiesterase 4D; DPDE3; PDE43. PDE4D ha una massa di 91.12kDa, una lunghezza di amminoacidi di 809, ed è implicato in Acrodysostosis 2, with or without hormone resistance.
Offriamo 12 anticorpi contro PDE4D, allevati nel Coniglio e Capra, che sono adatti per WB, IHC, ELISA, ICC/IF e IP con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes.
Sommario di Entrez
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.
Specificità del tessuto
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.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the cyclic nucleotide phosphodiesterase family. PDE4 subfamily.
Modifica post-translazionale
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.
Posizione cellulare
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.
