InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PRKAR1A

Summary

InnateDB Protein

IDBP-245104.6

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

ENSP00000376475

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:0030552	cAMP binding
GO:0031625	ubiquitin protein ligase binding
GO:0034236	protein kinase A catalytic subunit binding

Biological Process

GO:0001707	mesoderm formation
GO:0001932	regulation of protein phosphorylation
GO:0006112	energy reserve metabolic process
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0006469	negative regulation of protein kinase activity
GO:0006833	water transport
GO:0007143	female meiotic division
GO:0007165	signal transduction
GO:0007173	epidermal growth factor receptor signaling pathway
GO:0007202	activation of phospholipase C activity
GO:0007507	heart development
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:0045214	sarcomere organization
GO:0045835	negative regulation of meiosis
GO:0045859	regulation of protein kinase activity
GO:0048011	neurotrophin TRK receptor signaling pathway
GO:0050796	regulation of insulin secretion
GO:0055085	transmembrane transport
GO:0060038	cardiac muscle cell proliferation
GO:0071377	cellular response to glucagon stimulus
GO:2000480	negative regulation of cAMP-dependent protein kinase activity

Cellular Component

GO:0005737	cytoplasm
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:0031594	neuromuscular junction
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