|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
CAR
R1A
CNC1
PKA-RI-alpha
PKR1
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Carney_complex
acromegaly
primary pigmented nodular adrenocortical disease
|
|
gptkbp:biologicalProcess
|
gptkb:cAMP_signaling_pathway
protein kinase regulator activity
|
|
gptkbp:cellularComponent
|
gptkb:nucleus
gptkb:cytoplasm
|
|
gptkbp:clinicalTrialPhase
|
available
|
|
gptkbp:discoveredIn
|
1997
|
|
gptkbp:encodes
|
cAMP-dependent protein kinase type I-alpha regulatory subunit
|
|
gptkbp:Entrez_Gene_ID
|
5573
ENSG00000108946
|
|
gptkbp:expressedIn
|
multiple tissues
|
|
gptkbp:fullName
|
protein kinase cAMP-dependent type I regulatory subunit alpha
|
|
gptkbp:function
|
signal transduction
regulation of cAMP-dependent protein kinase activity
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
9386
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PRKAR1A
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:interactsWith
|
gptkb:PRKACA
gptkb:PRKACB
AKAPs
|
|
gptkbp:length
|
381
|
|
gptkbp:locatedOnChromosome
|
17q24.2
|
|
gptkbp:mutationAssociatedWith
|
loss-of-function
tumor predisposition
|
|
gptkbp:numberOfExons
|
12
|
|
gptkbp:OMIM
|
188830
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Prkar1a
|
|
gptkbp:pathway
|
gptkb:cAMP_signaling_pathway
GPCR signaling
|
|
gptkbp:proteinFamily
|
protein kinase A regulatory subunits
|
|
gptkbp:referenceGenome
|
NM_002734
|
|
gptkbp:referenceSequenceProtein
|
NP_002725
|
|
gptkbp:significance
|
pathogenic mutations cause Carney complex
|
|
gptkbp:tissue_specificity
|
ubiquitous
|
|
gptkbp:UniProtID
|
P10644
|
|
gptkbp:bfsParent
|
gptkb:RARA
gptkb:protein_kinase_A
|
|
gptkbp:bfsLayer
|
7
|