InnateDB Protein
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IDBP-22665.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PDE4D
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Protein Name
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phosphodiesterase 4D, cAMP-specific
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Synonyms
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ACRDYS2; DPDE3; HSPDE4D; PDE43; PDE4DN2; STRK1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000321739
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InnateDB Gene
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IDBG-22659 (PDE4D)
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Protein Structure
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Function |
Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. {ECO:0000269PubMed:15260978, ECO:0000269PubMed:15576036}.
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Subcellular Localization |
Apical cell membrane {ECO:0000269PubMed:14500724}. Cytoplasm {ECO:0000250}. Membrane {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250}. Note=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. {ECO:0000250}.
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Disease Associations |
Note=Genetic variations in PDE4D might be associated with susceptibility to stroke. PubMed:17006457 states that association with stroke has to be considered with caution.Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613]: 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. {ECO:0000269PubMed:22464250, ECO:0000269PubMed:22464252, ECO:0000269PubMed:23033274, ECO:0000269PubMed:23043190}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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. {ECO:0000269PubMed:12834813, ECO:0000269PubMed:17244609}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 46 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated |
Total |
46
[view]
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Protein-Protein |
46
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
6 [view]
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Molecular Function |
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Biological Process |
GO:0002027
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regulation of heart rate
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GO:0006198
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cAMP catabolic process
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GO:0007165
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signal transduction
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GO:0010469
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regulation of receptor activity
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GO:0010880
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regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
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GO:0019933
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cAMP-mediated signaling
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GO:0032729
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positive regulation of interferon-gamma production
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GO:0032743
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positive regulation of interleukin-2 production
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GO:0032754
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positive regulation of interleukin-5 production
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GO:0033137
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negative regulation of peptidyl-serine phosphorylation
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GO:0045822
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negative regulation of heart contraction
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GO:0050852
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T cell receptor signaling pathway
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GO:0060314
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regulation of ryanodine-sensitive calcium-release channel activity
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GO:0061028
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establishment of endothelial barrier
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GO:0071320
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cellular response to cAMP
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GO:0071872
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cellular response to epinephrine stimulus
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GO:0071875
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adrenergic receptor signaling pathway
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GO:0086004
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regulation of cardiac muscle cell contraction
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GO:0086024
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adrenergic receptor signaling pathway involved in positive regulation of heart rate
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GO:1901844
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regulation of cell communication by electrical coupling involved in cardiac conduction
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GO:1901898
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negative regulation of relaxation of cardiac muscle
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Cellular Component |
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PDB ID |
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InterPro |
IPR002073
3\'5\'-cyclic nucleotide phosphodiesterase, catalytic domain
IPR023088
3\'5\'-cyclic nucleotide phosphodiesterase
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PFAM |
PF00233
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PRINTS |
PR00387
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q08499
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PhosphoSite |
PhosphoSite-Q08499
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
5144
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UniGene |
Hs.734623
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RefSeq |
NP_001184152
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HUGO |
HGNC:8783
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OMIM |
600129
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CCDS |
CCDS56369
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HPRD |
02530
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IMGT |
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EMBL |
AF012073
AF012074
AF536975
AF536976
AF536977
AJ250854
AY245866
AY245867
AY388960
BC008390
BC036319
BT007398
L20969
L20970
U02882
U50157
U50158
U50159
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GenPept |
AAA03592
AAA97890
AAA97891
AAA97892
AAC00042
AAC00069
AAC00070
AAC13745
AAH08390
AAH36319
AAN10117
AAN10118
AAN10119
AAP36062
AAP75760
AAP75761
AAQ90404
CAC03757
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