Homo sapiens Protein: PDE11A | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-293493.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | PDE11A | ||||||||||||||||||
Protein Name | phosphodiesterase 11A | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000386539 | ||||||||||||||||||
InnateDB Gene | IDBG-75902 (PDE11A) | ||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||
Function | Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides cAMP and cGMP. Catalyzes the hydrolysis of both cAMP and cGMP to 5'-AMP and 5'- GMP, respectively. {ECO:0000269PubMed:10725373, ECO:0000269PubMed:10906126, ECO:0000269PubMed:11050148}. | ||||||||||||||||||
Subcellular Localization | Cytoplasm, cytosol {ECO:0000269PubMed:10906126}. | ||||||||||||||||||
Disease Associations | Primary pigmented nodular adrenocortical disease 2 (PPNAD2) [MIM:610475]: A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Adrenal glands show overall normal size and weight, and multiple small yellow-to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. {ECO:0000269PubMed:16767104}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Isoform 1 is present in prostate, pituitary, heart and liver. It is however not present in testis nor in penis, suggesting that weak inhibition by Tadalafil (Cialis) is not relevant (at protein level). Isoform 2 may be expressed in testis. Isoform 4 is expressed in adrenal cortex. {ECO:0000269PubMed:10725373, ECO:0000269PubMed:11121118, ECO:0000269PubMed:15800651, ECO:0000269PubMed:16079899, ECO:0000269PubMed:16767104}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR002073
3\'5\'-cyclic nucleotide phosphodiesterase, catalytic domain IPR003018 GAF domain IPR003607 HD/PDEase domain IPR023088 3\'5\'-cyclic nucleotide phosphodiesterase IPR029016 GAF domain-like |
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PFAM |
PF00233
PF01590 PF13185 PF13492 |
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PRINTS |
PR00387
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PIRSF | |||||||||||||||||||
SMART |
SM00065
SM00471 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q9HCR9 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q9HCR9 | ||||||||||||||||||
TrEMBL | Q53S13 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 50940 | ||||||||||||||||||
UniGene | Hs.570273 | ||||||||||||||||||
RefSeq | NP_001070826 | ||||||||||||||||||
HUGO | HGNC:8773 | ||||||||||||||||||
OMIM | 604961 | ||||||||||||||||||
CCDS | CCDS46459 | ||||||||||||||||||
HPRD | 05391 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB036704 AB038041 AB048423 AC011998 AC012499 AC073834 AC073892 AC083824 AF281865 AJ251509 AJ278682 BC112393 BC114431 | ||||||||||||||||||
GenPept | AAG32023 AAI12394 AAI14432 AAX93113 AAY14803 BAB16371 BAB16372 BAB62712 BAB62713 BAB62714 CAB82573 CAC15567 | ||||||||||||||||||