PRKACA (protein kinase cAMP-activated catalytic subunit alpha)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
5566 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Protein kinase cAMP-activated catalytic subunit alpha |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
PRKACA |
SynonymsGene synonyms aliases
|
CAFD1, PKACA, PPNAD4 |
ChromosomeChromosome number
|
19 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
19p13.12 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes one of the catalytic subunits of protein kinase A, which exists as a tetrameric holoenzyme with two regulatory subunits and two catalytic subunits, in its inactive form. cAMP causes the dissociation of the inactive holoenzyme into a dime |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs386352352 |
A>C |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
rs724160013 |
->CAC |
Pathogenic |
Coding sequence variant, inframe insertion |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000086 |
Process |
G2/M transition of mitotic cell cycle |
TAS |
|
GO:0000287 |
Function |
Magnesium ion binding |
IEA |
|
GO:0001669 |
Component |
Acrosomal vesicle |
ISS |
|
GO:0001707 |
Process |
Mesoderm formation |
IEA |
|
GO:0001843 |
Process |
Neural tube closure |
IEA |
|
GO:0002027 |
Process |
Regulation of heart rate |
TAS |
23507255 |
GO:0002223 |
Process |
Stimulatory C-type lectin receptor signaling pathway |
TAS |
|
GO:0003091 |
Process |
Renal water homeostasis |
TAS |
|
GO:0004672 |
Function |
Protein kinase activity |
IDA |
12475942 |
GO:0004674 |
Function |
Protein serine/threonine kinase activity |
IDA |
21085490 |
GO:0004674 |
Function |
Protein serine/threonine kinase activity |
IMP |
26537248 |
GO:0004679 |
Function |
AMP-activated protein kinase activity |
IEA |
|
GO:0004691 |
Function |
CAMP-dependent protein kinase activity |
IDA |
11029056 |
GO:0004691 |
Function |
CAMP-dependent protein kinase activity |
ISS |
|
GO:0004691 |
Function |
CAMP-dependent protein kinase activity |
NAS |
2843813 |
GO:0004691 |
Function |
CAMP-dependent protein kinase activity |
TAS |
|
GO:0004712 |
Function |
Protein serine/threonine/tyrosine kinase activity |
IDA |
22797923 |
GO:0005515 |
Function |
Protein binding |
IPI |
11035810, 12475942, 15630084, 15655353, 16387847, 17148597, 17911601, 18836454, 21085490, 23455922, 23602568, 24351927, 24464040, 24605759, 24700472, 24855271, 24860872, 25477193, 26496610, 27107012, 29568061, 31980649, 32296183, 32814053 |
GO:0005524 |
Function |
ATP binding |
IEA |
|
GO:0005634 |
Component |
Nucleus |
HDA |
21630459 |
GO:0005634 |
Component |
Nucleus |
IBA |
21873635 |
GO:0005634 |
Component |
Nucleus |
IDA |
21085490 |
GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
GO:0005737 |
Component |
Cytoplasm |
IDA |
21085490 |
GO:0005739 |
Component |
Mitochondrion |
IEA |
|
GO:0005813 |
Component |
Centrosome |
IDA |
21399614 |
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0005930 |
Component |
Axoneme |
IDA |
12475942 |
GO:0005952 |
Component |
CAMP-dependent protein kinase complex |
IDA |
12475942 |
GO:0005952 |
Component |
CAMP-dependent protein kinase complex |
NAS |
2843813 |
GO:0006397 |
Process |
MRNA processing |
IDA |
17594903 |
GO:0006468 |
Process |
Protein phosphorylation |
IDA |
12475942 |
GO:0006468 |
Process |
Protein phosphorylation |
NAS |
2843813 |
GO:0007596 |
Process |
Blood coagulation |
TAS |
|
GO:0010389 |
Process |
Regulation of G2/M transition of mitotic cell cycle |
TAS |
|
GO:0010737 |
Process |
Protein kinase A signaling |
IBA |
21873635 |
GO:0010881 |
Process |
Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion |
TAS |
23507255 |
GO:0016020 |
Component |
Membrane |
IDA |
15569306 |
GO:0016241 |
Process |
Regulation of macroautophagy |
TAS |
26046386 |
GO:0016607 |
Component |
Nuclear speck |
IDA |
17594903 |
GO:0018105 |
Process |
Peptidyl-serine phosphorylation |
IDA |
10805756, 11029056 |
GO:0018105 |
Process |
Peptidyl-serine phosphorylation |
IMP |
26537248 |
GO:0018105 |
Process |
Peptidyl-serine phosphorylation |
TAS |
26078884 |
GO:0018107 |
Process |
Peptidyl-threonine phosphorylation |
IEA |
|
GO:0019221 |
Process |
Cytokine-mediated signaling pathway |
TAS |
|
GO:0019901 |
Function |
Protein kinase binding |
IPI |
11035810, 17911601 |
GO:0019904 |
Function |
Protein domain specific binding |
IEA |
|
GO:0030145 |
Function |
Manganese ion binding |
IEA |
|
GO:0031594 |
Component |
Neuromuscular junction |
IEA |
|
GO:0031625 |
Function |
Ubiquitin protein ligase binding |
IDA |
21423175 |
GO:0034199 |
Process |
Activation of protein kinase A activity |
TAS |
|
GO:0034237 |
Function |
Protein kinase A regulatory subunit binding |
IBA |
21873635 |
GO:0034237 |
Function |
Protein kinase A regulatory subunit binding |
IPI |
17911601 |
GO:0034380 |
Process |
High-density lipoprotein particle assembly |
TAS |
|
GO:0034605 |
Process |
Cellular response to heat |
IDA |
21085490 |
GO:0034704 |
Component |
Calcium channel complex |
TAS |
23507255 |
GO:0035584 |
Process |
Calcium-mediated signaling using intracellular calcium source |
TAS |
23507255 |
GO:0036126 |
Component |
Sperm flagellum |
IEA |
|
GO:0043197 |
Component |
Dendritic spine |
IEA |
|
GO:0043393 |
Process |
Regulation of protein binding |
TAS |
23507255 |
GO:0044853 |
Component |
Plasma membrane raft |
IDA |
17911601 |
GO:0045667 |
Process |
Regulation of osteoblast differentiation |
IDA |
19949837 |
GO:0046777 |
Process |
Protein autophosphorylation |
IEA |
|
GO:0046827 |
Process |
Positive regulation of protein export from nucleus |
IEA |
|
GO:0048240 |
Process |
Sperm capacitation |
ISS |
|
GO:0048471 |
Component |
Perinuclear region of cytoplasm |
IDA |
21085490 |
GO:0050804 |
Process |
Modulation of chemical synaptic transmission |
IEA |
|
GO:0051480 |
Process |
Regulation of cytosolic calcium ion concentration |
TAS |
23507255 |
GO:0055117 |
Process |
Regulation of cardiac muscle contraction |
TAS |
23507255 |
GO:0060314 |
Process |
Regulation of ryanodine-sensitive calcium-release channel activity |
TAS |
23507255 |
GO:0061136 |
Process |
Regulation of proteasomal protein catabolic process |
IDA |
17565987 |
GO:0070062 |
Component |
Extracellular exosome |
HDA |
23533145 |
GO:0070613 |
Process |
Regulation of protein processing |
IEA |
|
GO:0071158 |
Process |
Positive regulation of cell cycle arrest |
ISS |
|
GO:0071333 |
Process |
Cellular response to glucose stimulus |
IDA |
19949837 |
GO:0071374 |
Process |
Cellular response to parathyroid hormone stimulus |
IEA |
|
GO:0071377 |
Process |
Cellular response to glucagon stimulus |
TAS |
|
GO:0071872 |
Process |
Cellular response to epinephrine stimulus |
TAS |
23507255 |
GO:0086064 |
Process |
Cell communication by electrical coupling involved in cardiac conduction |
TAS |
23507255 |
GO:0097546 |
Component |
Ciliary base |
TAS |
|
GO:0097711 |
Process |
Ciliary basal body-plasma membrane docking |
TAS |
|
GO:1901621 |
Process |
Negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning |
IEA |
|
GO:1903779 |
Process |
Regulation of cardiac conduction |
TAS |
|
GO:2000810 |
Process |
Regulation of bicellular tight junction assembly |
IDA |
15905176 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
P17612 |
Protein name |
cAMP-dependent protein kinase catalytic subunit alpha (PKA C-alpha) (EC 2.7.11.11) |
Protein function |
Phosphorylates a large number of substrates in the cytoplasm and the nucleus (PubMed:15642694, PubMed:15905176, PubMed:16387847, PubMed:17333334, PubMed:17565987, PubMed:17693412, PubMed:18836454, PubMed:19949837, PubMed:20356841, PubMed:2108549 |
PDB |
2GU8
,
3AGL
,
3AGM
,
3AMA
,
3AMB
,
3L9L
,
3L9M
,
3L9N
,
3MVJ
,
3NX8
,
3OOG
,
3OVV
,
3OWP
,
3OXT
,
3P0M
,
3POO
,
3VQH
,
4AE6
,
4AE9
,
4UJ1
,
4UJ2
,
4UJ9
,
4UJA
,
4UJB
,
4WB5
,
4WB6
,
4WB7
,
4WB8
,
5BX6
,
5BX7
,
5IZF
,
5IZJ
,
5J5X
,
5N23
,
5UZK
,
6BYR
,
6BYS
,
6C0U
,
6FRX
,
6NO7
,
6QJ7
,
6WJF
,
6WJG
,
7Y1G
,
8FE2
,
8FE5
,
8FEC
,
8X5L
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00069 |
Pkinase |
44 → 298 |
Protein kinase domain |
Domain |
|
Sequence |
|
Sequence length |
351 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Congenital adrenal hyperplasia |
Congenital adrenal hyperplasia |
rs104894069, rs1365173817, rs104894070, rs556794126, rs104894138, rs104894139, rs104894149, rs104894142, rs104894153, rs6471, rs7769409, rs9378251, rs201552310, rs397509367, rs6445, rs387906510, rs1474566961, rs7755898, rs72552754, rs151344503, rs151344504, rs1582299448, rs1582302625, rs72552757, rs80358217, rs80358220, rs80358221, rs121912974, rs28931607, rs72552772, rs72552771, rs28931608, rs786205875, rs121912976, rs1554299737, rs193922538, rs193922539, rs193922541, rs387907572, rs267606756, rs786204728, rs886038207, rs753774484, rs1554304513, rs1554305880, rs1429901248, rs767128094, rs367634557, rs936203749, rs1563435458, rs754609778, rs1563867837, rs776989258, rs1582298980, rs1582309414, rs1582300748, rs781805159, rs782336856, rs373613946, rs770199817, rs1582304457, rs1582304536, rs1582305275, rs182942340, rs1582307951, rs1367112998, rs1582312633, rs779791105, rs72552758, rs1447069098 |
|
Diabetes mellitus |
Diabetes Mellitus |
rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261 |
|
Hepatocellular carcinoma |
Fibrolamellar Hepatocellular Carcinoma |
rs397514032, rs587776627, rs587776665, rs28934571, rs121912654, rs121913279, rs587776802, rs121913274, rs121913675, rs121913676, rs121913677, rs78014899, rs121434587, rs121434588, rs121913407, rs149201802, rs1554040964, rs1554043088, rs778624338, rs1553631896, rs1575320216, rs1575330336 |
24578576 |
Hypertension |
Hypertensive disease |
rs13306026, rs13333226 |
|
Myopathy |
Myopathy |
rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338 |
|
Osteoporosis |
Osteoporosis |
rs72658152, rs72667023, rs587776916, rs72656370, rs768615287 |
|
Pigmented nodular adrenocortical disease |
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4, Primary pigmented nodular adrenocortical disease |
rs121918360, rs281864801, rs386352352, rs724160013, rs769235876, rs771254375 |
24747643, 24855271, 24700472, 24571724, 24571724 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Acne |
Acne |
|
|
Adrenal cancer |
Adrenal Cancer |
|
24747643 |
Adrenal neoplasia |
Adrenal Gland Neoplasms |
|
24747643 |
Adrenal hyperplasia |
Adrenal hyperplasia |
|
|
Alopecia |
Alopecia |
|
|
Atrophy |
Linear atrophy |
|
|
Cholangiocarcinoma |
Cholangiocarcinoma, Extrahepatic Cholangiocarcinoma |
rs1800795, rs1800872, rs2227983, rs4444903, rs1143634 |
26258846 |
Dwarfism |
Dwarfism |
|
|
Hypercortisolism |
Primary hypercortisolism |
|
|
Hypogonadism |
Hypogonadism |
|
|
Intrahepatic cholangiocarcinoma |
Intrahepatic Cholangiocarcinoma |
|
26258846 |
Mental depression |
Depressive disorder |
rs587778876, rs587778877 |
|
Mood swings |
Mood swings |
|
|
Non-alcoholic fatty liver disease |
Non-alcoholic Fatty Liver Disease, Nonalcoholic Steatohepatitis |
|
29341352 |
Osteopenia |
Osteopenia |
|
|
|
|
|