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The protein encoded by this gene is a member of the serine/threonine protein kinase family. The encoded protein is a catalytic subunit of cAMP (cyclic AMP)-dependent protein kinase, which mediates signalling though cAMP. cAMP signaling is important to a number of processes, including cell proliferaton and differentiation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2014]
PRKACB (Protein Kinase CAMP-Activated Catalytic Subunit Beta) is a Protein Coding gene. Diseases associated with PRKACB include Cardioacrofacial Dysplasia 2 and Primary Pigmented Nodular Adrenocortical Disease. Among its related pathways are Beta-Adrenergic Signaling and ERK Signaling. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is PRKACA.
Protein kinase A (PKA, aka cAMP-dependent protein kinase) is involved in the regulation of lipid and glucose metabolism and is a component of the signal transduction mechanism of certain GPCRs. PKA is composed of two regulatory subunits and two catalytic subunits.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0000287 | magnesium ion binding | IDA | 12420224 |
GO:0004672 | protein kinase activity | IEA | -- |
GO:0004674 | protein serine/threonine kinase activity | IEA | -- |
GO:0004679 | AMP-activated protein kinase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005813 | centrosome | IDA | 21399614 |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | DAG and IP3 signaling |
.93
Beta-2 adrenergic-dependent CFTR expression
.50
|
Neurophysiological process PGE2-induced pain processing
.38
Signal transduction Calcium signaling
.35
Inhibitory action of Lipoxin A4 on PDGF, EGF and LTD4 signaling
.33
Development Beta-adrenergic receptors signaling via cAMP
.32
Development Role of Activin A in cell differentiation and proliferation
.32
.01
|
2 | RET signaling |
.92
.92
|
|
3 | Aldosterone synthesis and secretion |
.41
|
.41
|
4 | G-Beta Gamma Signaling |
G-Beta Gamma Signaling
.46
GHRH Signaling
.46
CRHR Pathway
.44
|
Relaxin Pathway
.37
Hedgehog Signaling in Mammals
.32
Signaling in Gap Junctions
.30
|
5 | Aquaporin-mediated transport |
Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
.40
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001843 | neural tube closure | IEA | -- |
GO:0002223 | stimulatory C-type lectin receptor signaling pathway | TAS | -- |
GO:0003091 | renal water homeostasis | TAS | -- |
GO:0006468 | protein phosphorylation | IEA,IDA | 12420224 |
GO:0007165 | signal transduction | TAS | 2342480 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
fostamatinib | Approved, Investigational | Pharma | Target, inhibitor | Kinase Inhibitors | 0 | |
Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
Phosphonothreonine | Experimental | Pharma | Target | 0 | ||
cyclic amp | Experimental | Pharma | 0 | |||
ATP | Investigational | Nutra | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
58-64-0 |
|
|||
H 89 dihydrochloride |
|
130964-39-5 |
|
|
Compound | Action | Cas Number |
---|---|---|
cGMP Dependent Kinase Inhibitor Peptide | Inhibitor of protein kinases G and A | 82801-73-8 |
H 89 dihydrochloride | Protein kinase A inhibitor | 130964-39-5 |
KT 5720 | Selective protein kinase A inhibitor | 108068-98-0 |
PKA inhibitor fragment (6-22) amide | Potent protein kinase A inhibitor | 121932-06-7 |
PKI 14-22 amide, myristoylated | Cell-permeable protein kinase A inhibitor | 201422-03-9 |
Compound | Action | Cas Number |
---|---|---|
Daphnetin | Protein kinases inhibitor for EGFR/PKA/PKC | 486-35-1 |
H 89 2HCl | Potent PKA inhibitor | 130964-39-5 |
K-252c | Protein kinase inhibitor | 85753-43-1 |
PKA inhibitor fragment (6-22) amide | 121932-06-7 | |
PKI 14-22 amide, myristoylated | PKA inhibitor | 201422-03-9 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12a | · | 12b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PRKACB 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | PRKACB 31 |
|
OneToOne | |
LOC479975 30 |
|
||||
Cow (Bos Taurus) |
Mammalia | PRKACB 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PRKACB 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Prkacb 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Prkacb 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PRKACB 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PRKACB 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | prkacb 30 |
|
||
Str.3970 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | kin-1-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | prkacba 31 |
|
OneToMany | |
prkacbb 30 31 31 |
|
OneToMany | |||
zgc64054 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Pka-C1 30 31 32 |
|
OneToMany | |
Pka-C3 32 |
|
|
|||
Pka-C2 32 |
|
|
|||
CG12069 32 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001384 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | kin-1 30 31 |
|
OneToMany | |
F47F2.1a 32 |
|
|
|||
F47F2.1b 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TPK1 30 31 |
|
ManyToMany | |
TPK2 31 |
|
ManyToMany | |||
TPK3 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU06240 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3274 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
989456 | Pathogenic: CARDIOACROFACIAL DYSPLASIA 2 | 84,202,743(+) |
G/C NM_182948.4(PRKACB):c.844G>C (p.Gly282Arg) |
MISSENSE | |
989457 | Pathogenic: CARDIOACROFACIAL DYSPLASIA 2 | 84,182,252(+) |
C/T NM_182948.4(PRKACB):c.302C>T (p.Ser101Leu) |
MISSENSE | |
989458 | Pathogenic: CARDIOACROFACIAL DYSPLASIA 2 | 84,184,062(+) |
A/G NM_182948.4(PRKACB):c.404A>G (p.His135Arg) |
MISSENSE_VARIANT,INTRON | |
989459 | Pathogenic: CARDIOACROFACIAL DYSPLASIA 2 | 84,184,061(+) |
C/A NM_182948.4(PRKACB):c.403C>A (p.His135Asn) |
MISSENSE_VARIANT,INTRON | |
rs36117118 | - |
p.Arg106Gln |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv206n100 | CNV | loss | 25217958 |
esv3586660 | CNV | loss | 21293372 |
nsv1011105 | CNV | loss | 25217958 |
nsv1076323 | CNV | duplication | 25765185 |
nsv1115345 | CNV | duplication | 24896259 |
nsv1732 | CNV | deletion | 18451855 |
nsv546689 | CNV | gain | 21841781 |
nsv546690 | CNV | gain | 21841781 |
nsv830414 | CNV | gain | 17160897 |
nsv950200 | CNV | duplication | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cardioacrofacial dysplasia 2 |
|
|
primary pigmented nodular adrenocortical disease |
|
|
cervical non-keratinizing squamous cell carcinoma |
|
|
cervical keratinizing squamous cell carcinoma |
|
|
carney complex variant |
|
|