Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	PRKAR1A
Previous Symbol	PRKAR1, TSE1
Symbol Alias	CNC1
Approved Name	protein kinase, cAMP-dependent, regulatory, type I, alpha
Previous Name	tissue specific extinguisher 1
Name Alias	Carney complex type 1
Location	17q24.2
Position	chr17:68511780-68551319, 1
External Links	HGNC: 9388 Entrez Gene: 5573 Ensembl: ENSG00000108946 UCSC: uc002jhg.4
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Forero, D. A., 2016	SNP: rs4968898	P-value=0.03. HapMap based haplotype block analysis as well as sliding window haplotype analysis revealed significant associations with NF1 (p=0,01), PPP3CB (p=0005) and PRKAR1A (p=0,03) in the total BP and SZ samples.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 37)

GO terms by PBA (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016020	membrane	cellular component	IDA[19946888]	137
GO:0045087	innate immune response	biological process	TAS	49
GO:0005886	plasma membrane	cellular component	IEA	360

GO terms by database search (count: 34)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0043234	protein complex	cellular component	IDA	27
GO:0034199	activation of protein kinase A activity	biological process	TAS	5
GO:0007165	signal transduction	biological process	TAS	136
GO:0008543	fibroblast growth factor receptor signaling pathway	biological process	TAS	21
GO:0031588	AMP-activated protein kinase complex	cellular component	IDA[21812984]	2
GO:0003091	renal water homeostasis	biological process	TAS	9
GO:0034236	protein kinase A catalytic subunit binding	molecular function	IPI[21812984]	4
GO:0005829	cytosol	cellular component	TAS	223
GO:0004862	cAMP-dependent protein kinase inhibitor activity	molecular function	IDA[21812984]	4
GO:0050796	regulation of insulin secretion	biological process	TAS	24
GO:0045214	sarcomere organization	biological process	IEA	1
GO:0008603	cAMP-dependent protein kinase regulator activity	molecular function	IDA[21812984]	2
GO:0048011	neurotrophin TRK receptor signaling pathway	biological process	TAS	33
GO:0007173	epidermal growth factor receptor signaling pathway	biological process	TAS	22
GO:0006833	water transport	biological process	TAS	9
GO:0031625	ubiquitin protein ligase binding	molecular function	IDA[21423175]	25
GO:0071377	cellular response to glucagon stimulus	biological process	TAS	7
GO:0045835	negative regulation of meiotic nuclear division	biological process	IEA	1
GO:0006112	energy reserve metabolic process	biological process	TAS	19
GO:0031594	neuromuscular junction	cellular component	IEA	9
GO:0007202	activation of phospholipase C activity	biological process	TAS	15
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0007596	blood coagulation	biological process	TAS	44
GO:0030552	cAMP binding	molecular function	IEA	5
GO:0006357	regulation of transcription from RNA polymerase II promoter	biological process	TAS[1832337]	21
GO:0097546	ciliary base	cellular component	TAS	6
GO:0007143	female meiotic division	biological process	IEA	1
GO:0060038	cardiac muscle cell proliferation	biological process	IEA	2
GO:0001707	mesoderm formation	biological process	IEA	2
GO:0005952	cAMP-dependent protein kinase complex	cellular component	IEA	2
GO:0035556	intracellular signal transduction	biological process	TAS[1889088]	38
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:2000480	negative regulation of cAMP-dependent protein kinase activity	biological process	IDA[21812984]	4
GO:0005515	protein binding	molecular function	IPI[11414803]	563

Gene related KEGG pathways (count: 2)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04210	Apoptosis	12

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04910	Insulin signaling pathway	10

Gene related BioCarta pathways (count: 20)

BioCarta pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
badPathway	Regulation of BAD phosphorylation	9

BioCarta pathways by database search (count: 19)

ID	Name	No. of Genes in BDgene
gpcrPathway	Signaling Pathway from G-Protein Families	7
dreampathway	Repression of Pain Sensation by the Transcriptional Regulator DREAM	4
plcePathway	Phospholipase C-epsilon pathway	4
igf1rPathway	Multiple antiapoptotic pathways from IGF-1R signaling lead to BAD phosphorylation	5
no1Pathway	Actions of Nitric Oxide in the Heart	9
CSKPathway	Activation of Csk by cAMP-dependent Protein Kinase Inhibits Signaling through the T Cell Receptor	4
mCalpainPathway	mCalpain and friends in Cell motility	3
crebPathway	Transcription factor CREB and its extracellular signals	8
pparaPathway	Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha)	12
vipPathway	Neuropeptides VIP and PACAP inhibit the apoptosis of activated T cells	9
carm1Pathway	Transcription Regulation by Methyltransferase of CARM1	4
stathminPathway	Stathmin and breast cancer resistance to antimicrotubule agents	3
nfatPathway	NFAT and Hypertrophy of the heart (Transcription in the broken heart)	11
gsPathway	Activation of cAMP-dependent protein kinase, PKA	2
agpcrPathway	Attenuation of GPCR Signaling	3
shhPathway	Sonic Hedgehog (Shh) Pathway	5
GATA3pathway	GATA3 participate in activating the Th2 cytokine genes expression	2
ck1Pathway	Regulation of ck1/cdk5 by type 1 glutamate receptors	6
mPRPathway	How Progesterone Initiates Oocyte Membrane	3

Gene related interactors from protein-protein interactions data in HPRD (count: 22)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
PRKAR1A	SLC2A4	NO	in vivo	16396496
PRKAR1A	SMAD2	NO	yeast 2-hybrid	15231748
PRKAR1A	PRKX	NO	in vitro;in vivo	10026146
PRKAR1A	RFC2	NO	in vivo	15096576
PRKAR1A	CDK4	NO	in vivo	16582606
PRKAR1A	C2orf88	NO	yeast 2-hybrid	16189514
PRKAR1A	AKAP1	NO	in vitro;in vivo	10764601 , 9065479
PRKAR1A	GRB2	NO	in vitro;in vivo	9050991
PRKAR1A	AKAP7	NO	in vivo;yeast 2-hybrid	12804576
PRKAR1A	AKAP11	NO	in vivo	10864471
PRKAR1A	CCNE1	NO	in vitro;in vivo	16582606
PRKAR1A	HLA-A	YES	in vitro	6333425
PRKAR1A	PLEKHF2	NO	yeast 2-hybrid	16189514
PRKAR1A	PRKACA	NO	in vitro	9405392 , 11834733
PRKAR1A	CDK2	NO	in vitro;in vivo	16582606
PRKAR1A	ARFGEF2	NO	in vitro;in vivo;yeast 2-hybrid	12571360
PRKAR1A	PRPF40A	NO	yeast 2-hybrid	15231748
PRKAR1A	PRKAR1B	NO	in vitro;in vivo;yeast 2-hybrid	12634056 , 8407966
PRKAR1A	MYO7A	NO	in vivo;yeast 2-hybrid	10889203
PRKAR1A	AKAP4	NO	in vitro;yeast 2-hybrid	9852104
PRKAR1A	PYCARD	NO	yeast 2-hybrid	16189514
PRKAR1A	ITGA4	NO	in vivo	17369818

Related other genetic factors

Gene related SNPs (count: 3)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs4968898	chr17:68509715 - 68509715(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)

LD-proxies (count: 2)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs2286561		chr17:68541233 - 68541233(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs2286562		chr17:68543706 - 68543706(1)	3_prime_UTR_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
17q23-q24	chr17:59500000-72900000	1 (0/1/0)
17q11-25	chr17:25100000-83257441	1 (1/0/0)
Chr 17	chr17:0-83257441	3 (0/3/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 0)

Overlap with MDD from candidate gene intersection analysis (count: 1)

Reference	Description	Category in MDD	Link in MK4MDD
17353912	Selected differentially expressed genes in BA29	Pos	PRKAR1A

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Region: chr17:68511780..68551319 View in gBrowse