MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP002417

UniProt Annotations

Entry Information
Gene Nameprotein kinase, cAMP-dependent, regulatory, type I, alpha
Protein EntryKAP0_HUMAN
UniProt IDP10644
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P10644-1; Sequence=Displayed; Name=2; IsoId=P10644-2; Sequence=VSP_054833, VSP_054834; Note=No experimental confirmation available. Gene prediction based on EST data.;
DiseaseAcrodysostosis 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:0000269|PubMed:21651393, ECO:0000269|PubMed:22464250, ECO:0000269|PubMed:22464252, ECO:0000269|PubMed:22723333, ECO:0000269|PubMed:23043190, ECO:0000269|PubMed:23425300}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseCarney 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:0000269|PubMed:15371594, ECO:0000269|PubMed:18241045, ECO:0000269|PubMed:22785148, ECO:0000269|PubMed:23323113}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseIntracardiac myxoma (INTMYX) [MIM:255960]: Inheritance is autosomal recessive. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseasePrimary 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:0000269|PubMed:12213893}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionRegulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells. {ECO:0000269|PubMed:16491121, ECO:0000269|PubMed:20215566}.
InteractionP03259-2:- (xeno); NbExp=5; IntAct=EBI-476431, EBI-7225021; Q9H0R8:GABARAPL1; NbExp=2; IntAct=EBI-476431, EBI-746969; Q9H8W4:PLEKHF2; NbExp=3; IntAct=EBI-476431, EBI-742388; P17612:PRKACA; NbExp=2; IntAct=EBI-476431, EBI-476586; P51817:PRKX; NbExp=2; IntAct=EBI-476431, EBI-4302903; P35250:RFC2; NbExp=7; IntAct=EBI-476431, EBI-476409; Q01105:SET; NbExp=2; IntAct=EBI-476431, EBI-1053182;
PtmThe pseudophosphorylation site binds to the substrate-binding region of the catalytic chain, resulting in the inhibition of its activity.
SimilarityBelongs to the cAMP-dependent kinase regulatory chain family. {ECO:0000305}.
SimilarityContains 2 cyclic nucleotide-binding domains. {ECO:0000255|PROSITE-ProRule:PRU00060}.
Subcellular LocationCell membrane {ECO:0000269|PubMed:23115245}.
SubunitThe inactive holoenzyme is composed of two regulatory chains and two catalytic chains. Activation by cAMP releases the two active catalytic monomers and the regulatory dimer. PRKAR1A also interacts with RFC2; the complex may be involved in cell survival. Interacts with AKAP4. Interacts with RARA; the interaction occurs in the presence of cAMP or FSH and regulates RARA transcriptional activity. Interacts with the phosphorylated form of PJA2. Interacts with CBFA2T3 (By similarity). Interacts with PRKX; regulates this cAMP-dependent protein kinase. Interacts with C2orf88/smAKAP; this interaction may target PRKAR1A to the plasma membrane. Interacts with AICDA. {ECO:0000250, ECO:0000269|PubMed:15655353, ECO:0000269|PubMed:16387847, ECO:0000269|PubMed:16491121, ECO:0000269|PubMed:20215566, ECO:0000269|PubMed:21423175, ECO:0000269|PubMed:23115245}.
Tissue SpecificityFour 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.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/PRKAR1AID387.html";
  logo