Homo sapiens Protein: PRKAR1A
Summary
InnateDB Protein IDBP-65909.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PRKAR1A
Protein Name protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)
Synonyms ACRDYS1; ADOHR; CAR; CNC; CNC1; PKR1; PPNAD1; PRKAR1; TSE1;
Species Homo sapiens
Ensembl Protein ENSP00000351410
InnateDB Gene IDBG-65907 (PRKAR1A)
Protein Structure
UniProt Annotation
Function Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells. {ECO:0000269PubMed:16491121, ECO:0000269PubMed:20215566}.
Subcellular Localization Cell membrane {ECO:0000269PubMed:23115245}.
Disease Associations Carney complex 1 (CNC1) [MIM:160980]: CNC is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. {ECO:0000269PubMed:15371594, ECO:0000269PubMed:18241045, ECO:0000269PubMed:22785148, ECO:0000269PubMed:23323113}. Note=The disease is caused by mutations affecting the gene represented in this entry.Intracardiac myxoma (INTMYX) [MIM:255960]: Inheritance is autosomal recessive. Note=The disease is caused by mutations affecting the gene represented in this entry.Primary pigmented nodular adrenocortical disease 1 (PPNAD1) [MIM:610489]: 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. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. PPNAD1 is most often diagnosed in patients with Carney complex, a multiple neoplasia syndrome. However it can also be observed in patients without other manifestations. {ECO:0000269PubMed:12213893}. Note=The disease is caused by mutations affecting the gene represented in this entry.Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800]: A form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin. However, not all patients show endocrine abnormalities. {ECO:0000269PubMed:21651393, ECO:0000269PubMed:22464250, ECO:0000269PubMed:22464252, ECO:0000269PubMed:22723333, ECO:0000269PubMed:23043190, ECO:0000269PubMed:23425300}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Four types of regulatory chains are found: I- alpha, I-beta, II-alpha, and II-beta. Their expression varies among tissues and is in some cases constitutive and in others inducible.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 92 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 92 [view]
Protein-Protein 89 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 3 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004862 cAMP-dependent protein kinase inhibitor activity
GO:0005515 protein binding
GO:0008603 cAMP-dependent protein kinase regulator activity
GO:0031625 ubiquitin protein ligase binding
GO:0034236 protein kinase A catalytic subunit binding
Biological Process
GO:0001932 regulation of protein phosphorylation
GO:0006112 energy reserve metabolic process
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006833 water transport
GO:0007165 signal transduction
GO:0007173 epidermal growth factor receptor signaling pathway
GO:0007202 activation of phospholipase C activity
GO:0007596 blood coagulation
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0034199 activation of protein kinase A activity
GO:0035556 intracellular signal transduction
GO:0044281 small molecule metabolic process
GO:0045087 innate immune response
GO:0048011 neurotrophin TRK receptor signaling pathway
GO:0050796 regulation of insulin secretion
GO:0055085 transmembrane transport
GO:0071377 cellular response to glucagon stimulus
GO:2000480 negative regulation of cAMP-dependent protein kinase activity
Cellular Component
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005952 cAMP-dependent protein kinase complex
GO:0016020 membrane
GO:0031588 AMP-activated protein kinase complex
GO:0043234 protein complex
Protein Structure and Domains
PDB ID
InterPro IPR000595 Cyclic nucleotide-binding domain
IPR002373 cAMP/cGMP-dependent protein kinase
IPR003117 Dimerization-anchoring domain of cAMP-dependent protein kinase, regulatory subunit
IPR012198 cAMP-dependent protein kinase regulatory subunit
IPR018490 Cyclic nucleotide-binding-like
PFAM PF00027
PF02197
PRINTS PR00103
PIRSF PIRSF000548
SMART SM00100
SM00394
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P10644
PhosphoSite PhosphoSite-P10644
TrEMBL Q96P62
UniProt Splice Variant
Entrez Gene 5573
UniGene Hs.733388
RefSeq NP_997636
HUGO HGNC:9388
OMIM 188830
CCDS CCDS11678
HPRD 01786
IMGT
EMBL AC079210 AF411298 AK097580 AK312307 BC036285 BC093042 CH471099 M18468 M33336 S54705 S54707 S54709 S54711 Y07642
GenPept AAB50921 AAB50922 AAH36285 AAH93042 AAL05860 BAG35232 BAG53489 CAA68925 EAW89060 EAW89061 EAW89062 EAW89063 EAW89065