ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	PRKAA1
Symbol Alias	AMPKa1
Approved Name	protein kinase, AMP-activated, alpha 1 catalytic subunit
Name Alias	AMPK, alpha, 1
Location	5p12
Position	chr5:40759481-40798476, -
External Links	HGNC: 9376 Entrez Gene: 5562 Ensembl: ENSG00000249325 UCSC: uc003jmc.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
5p13	chr5:28900000-42500000	3 (1/1/1)

Gene related GO terms (count: 60)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 60)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0046872	metal ion binding	Molecular Function		170
GO:0047322	[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity	Molecular Function		1
GO:0048511	rhythmic process	Biological Process		2
GO:0050321	tau-protein kinase activity	Molecular Function		5
GO:0050405	[acetyl-CoA carboxylase] kinase activity	Molecular Function		1
GO:0050995	negative regulation of lipid catabolic process	Biological Process		5
GO:0051291	protein heterooligomerization	Biological Process		10
GO:0055089	fatty acid homeostasis	Biological Process		3
GO:0060627	regulation of vesicle-mediated transport	Biological Process		2
GO:0070301	cellular response to hydrogen peroxide	Biological Process		10
GO:0071361	cellular response to ethanol	Biological Process		3
GO:0071456	cellular response to hypoxia	Biological Process		12
GO:2000505	regulation of energy homeostasis	Biological Process		1
GO:2001274	negative regulation of glucose import in response to insulin stimulus	Biological Process		1
GO:0004672	protein kinase activity	Molecular Function	IDA[17028174]	27
GO:0003682	chromatin binding	Molecular Function		48
GO:0004691	cAMP-dependent protein kinase activity	Molecular Function	NAS[8557660]	1
GO:0004679	AMP-activated protein kinase activity	Molecular Function	IDA[18439900]	3
GO:0001666	response to hypoxia	Biological Process	NAS[8557660]	34
GO:0000187	activation of MAPK activity	Biological Process	NAS[11546797]	21
GO:0006006	glucose metabolic process	Biological Process		19
GO:0005829	cytosol	Cellular Component		447
GO:0006355	regulation of transcription, DNA-dependent	Biological Process		158
GO:0006351	transcription, DNA-dependent	Biological Process		247
GO:0005524	ATP binding	Molecular Function		228
GO:0005515	protein binding	Molecular Function		910
GO:0005634	nucleus	Cellular Component		770
GO:0005622	intracellular	Cellular Component	IC[8557660]	67
GO:0035174	histone serine kinase activity	Molecular Function		2
GO:0032007	negative regulation of TOR signaling cascade	Biological Process		4
GO:0031669	cellular response to nutrient levels	Biological Process		2
GO:0031588	AMP-activated protein kinase complex	Cellular Component		4
GO:0031000	response to caffeine	Biological Process		6
GO:0019900	kinase binding	Molecular Function		7
GO:0019395	fatty acid oxidation	Biological Process		3
GO:0016324	apical plasma membrane	Cellular Component		51
GO:0046320	regulation of fatty acid oxidation	Biological Process		5
GO:0046318	negative regulation of glucosylceramide biosynthetic process	Biological Process	NAS[11165240]	1
GO:0045821	positive regulation of glycolysis	Biological Process		2
GO:0045542	positive regulation of cholesterol biosynthetic process	Biological Process	NAS[8557660]	2
GO:0043066	negative regulation of apoptotic process	Biological Process		77
GO:0042752	regulation of circadian rhythm	Biological Process		1
GO:0042593	glucose homeostasis	Biological Process		18
GO:0042149	cellular response to glucose starvation	Biological Process		4
GO:0007165	signal transduction	Biological Process	TAS[8557660]	171
GO:0008022	protein C-terminus binding	Molecular Function		32
GO:0006950	response to stress	Biological Process		30
GO:0007050	cell cycle arrest	Biological Process		25
GO:0006695	cholesterol biosynthetic process	Biological Process		7
GO:0006914	autophagy	Biological Process		13
GO:0006468	protein phosphorylation	Biological Process	IDA[17028174]	53
GO:0006633	fatty acid biosynthetic process	Biological Process		16
GO:0014823	response to activity	Biological Process		7
GO:0016055	Wnt receptor signaling pathway	Biological Process		20
GO:0010508	positive regulation of autophagy	Biological Process		3
GO:0010628	positive regulation of gene expression	Biological Process	IDA[17028174]	28
GO:0008610	lipid biosynthetic process	Biological Process		3
GO:0009631	cold acclimation	Biological Process		1
GO:0008284	positive regulation of cell proliferation	Biological Process		69
GO:0008286	insulin receptor signaling pathway	Biological Process		32

Gene related KEGG pathways (count: 5)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05410	Hypertrophic cardiomyopathy (HCM)	25	Hypertrophic cardiomyopathy (HCM) is a primary myocardial di...... Hypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological features of myocyte hypertrophy, myfibrillar disarray, and interstitial fibrosis. HCM is one of the most common inherited cardiac disorders, with a prevalence in young adults of 1 in 500. Hundreds of mutations in 11 genes that encode protein constituents of the sarcomere have been identified in HCM. These mutations increase the Ca2+ sensitivity of cardiac myofilaments. Increased myofilament Ca2+ sensitivity is expected to increase the ATP utilization by actomyosin at submaximal Ca2+ concentrations, which might cause an imbalance in energy supply and demand in the heart under severe stress. The inefficient use of ATP suggests that an inability to maintain normal ATP levels could be the central abnormality. This theory might be supported by the discovery of the role of a mutant PRKAG2 gene in HCM, which in active form acts as a central sensing mechanism protecting cells from depletion of ATP supplies. The increase in the myfilament Ca2+ sensitivity well account for the diastolic dysfunction of model animals as well as human patients of HCM. It has been widely proposed that left ventricular hypertrophy is not a primary manifestation but develops as compensatory response to sarcomere dysfunction. More...
hsa04920	Adipocytokine signaling pathway	8	Increased adipocyte volume and number are positively correla...... Increased adipocyte volume and number are positively correlated with leptin production, and negatively correlated with production of adiponectin. More...
hsa04910	Insulin signaling pathway	29	Insulin binding to its receptor results in the tyrosine phos...... Insulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the regulatory subunit of phosphoinositide 3-kinase (PI3K). PI3K activates 3-phosphoinositide-dependent protein kinase 1 (PDK1), which activates Akt, a serine kinase. Akt in turn deactivates glycogen synthase kinase 3 (GSK-3), leading to activation of glycogen synthase (GYS) and thus glycogen synthesis. Activation of Akt also results in the translocation of GLUT4 vesicles from their intracellular pool to the plasma membrane, where they allow uptake of glucose into the cell. Akt also leads to mTOR-mediated activation of protein synthesis by eIF4 and p70S6K. The translocation of GLUT4 protein is also elicited through the CAP/Cbl/TC10 pathway, once Cbl is phosphorylated by INSR. More...
hsa04140	Regulation of autophagy	6
hsa04150	mTOR signaling pathway	13

Genes shared at least 5 GO terms with PRKAA1 (count: 103)

Gene Symbol	Pathway Count	Pathway List
TGFBR1	10	metal ion binding; protein kinase activity; regulation of transcription, DNA-dependent; ATP binding; protein binding; negative regulation of apoptotic process; signal transduction; cell cycle arrest; protein phosphorylation; positive regulation of cell proliferation;
INS	10	negative regulation of lipid catabolic process; fatty acid homeostasis; glucose metabolic process; regulation of transcription, DNA-dependent; protein binding; positive regulation of glycolysis; negative regulation of apoptotic process; glucose homeostasis; positive regulation of cell proliferation; insulin receptor signaling pathway;
MAPK1	10	activation of MAPK activity; cytosol; transcription, DNA-dependent; ATP binding; protein binding; nucleus; signal transduction; response to stress; positive regulation of cell proliferation; insulin receptor signaling pathway;
PRKAB2	9	AMP-activated protein kinase activity; cytosol; protein binding; AMP-activated protein kinase complex; regulation of fatty acid oxidation; signal transduction; cell cycle arrest; fatty acid biosynthetic process; insulin receptor signaling pathway;
PRKCB	8	chromatin binding; cytosol; transcription, DNA-dependent; ATP binding; protein binding; nucleus; signal transduction; protein phosphorylation;
PRKAG3	8	AMP-activated protein kinase activity; cytosol; ATP binding; AMP-activated protein kinase complex; regulation of fatty acid oxidation; cell cycle arrest; fatty acid biosynthetic process; insulin receptor signaling pathway;
ERBB2	8	transcription, DNA-dependent; ATP binding; protein binding; nucleus; apical plasma membrane; signal transduction; protein C-terminus binding; protein phosphorylation;
CRYAB	7	metal ion binding; response to hypoxia; glucose metabolic process; cytosol; protein binding; nucleus; negative regulation of apoptotic process;
SMG1	7	metal ion binding; protein kinase activity; cytosol; ATP binding; protein binding; nucleus; response to stress;
GSK3B	7	tau-protein kinase activity; cytosol; ATP binding; protein binding; nucleus; negative regulation of apoptotic process; protein phosphorylation;
ILK	7	protein heterooligomerization; cytosol; ATP binding; protein binding; cell cycle arrest; protein phosphorylation; positive regulation of cell proliferation;
MAPK7	7	cellular response to hydrogen peroxide; cytosol; ATP binding; protein binding; nucleus; negative regulation of apoptotic process; signal transduction;
CSNK1E	7	protein kinase activity; cytosol; ATP binding; protein binding; nucleus; signal transduction; protein phosphorylation;
PLK1	7	protein kinase activity; cytosol; ATP binding; protein binding; nucleus; negative regulation of apoptotic process; protein phosphorylation;
APBB1	7	chromatin binding; regulation of transcription, DNA-dependent; transcription, DNA-dependent; protein binding; nucleus; signal transduction; cell cycle arrest;
SREBF1	7	chromatin binding; transcription, DNA-dependent; protein binding; nucleus; positive regulation of cholesterol biosynthetic process; lipid biosynthetic process; insulin receptor signaling pathway;
ATM	7	response to hypoxia; ATP binding; protein binding; histone serine kinase activity; negative regulation of apoptotic process; signal transduction; cell cycle arrest;
MAPK3	7	activation of MAPK activity; cytosol; ATP binding; protein binding; nucleus; protein phosphorylation; insulin receptor signaling pathway;
PRKAG2	7	cytosol; ATP binding; AMP-activated protein kinase complex; regulation of fatty acid oxidation; cell cycle arrest; fatty acid biosynthetic process; insulin receptor signaling pathway;
CNOT6	6	metal ion binding; cytosol; regulation of transcription, DNA-dependent; transcription, DNA-dependent; protein binding; nucleus;
LATS2	6	metal ion binding; cytosol; ATP binding; protein binding; nucleus; protein phosphorylation;
PRKD1	6	metal ion binding; cytosol; ATP binding; protein binding; nucleus; signal transduction;
ROCK2	6	metal ion binding; cytosol; ATP binding; protein binding; nucleus; protein phosphorylation;
MARK2	6	tau-protein kinase activity; ATP binding; protein binding; nucleus; protein phosphorylation; Wnt receptor signaling pathway;
RIPK3	6	protein heterooligomerization; protein kinase activity; cytosol; ATP binding; protein binding; signal transduction;
TSC1	6	protein heterooligomerization; cytosol; protein binding; negative regulation of TOR signaling cascade; cell cycle arrest; insulin receptor signaling pathway;
BNIP3	6	cellular response to hydrogen peroxide; cellular response to hypoxia; response to hypoxia; protein binding; nucleus; negative regulation of apoptotic process;
ETS1	6	cellular response to hydrogen peroxide; response to hypoxia; transcription, DNA-dependent; protein binding; nucleus; positive regulation of cell proliferation;
VEGFA	6	cellular response to hypoxia; response to hypoxia; protein binding; negative regulation of apoptotic process; positive regulation of gene expression; positive regulation of cell proliferation;
PAK1	6	protein kinase activity; response to hypoxia; cytosol; ATP binding; protein binding; protein phosphorylation;
HINFP	6	chromatin binding; regulation of transcription, DNA-dependent; transcription, DNA-dependent; protein binding; nucleus; positive regulation of gene expression;
MEN1	6	chromatin binding; cytosol; transcription, DNA-dependent; protein binding; nucleus; cell cycle arrest;
RELA	6	chromatin binding; cytosol; protein binding; nucleus; negative regulation of apoptotic process; positive regulation of cell proliferation;
YAP1	6	chromatin binding; cytosol; protein binding; nucleus; negative regulation of apoptotic process; positive regulation of cell proliferation;
BIRC2	6	cytosol; regulation of transcription, DNA-dependent; transcription, DNA-dependent; protein binding; nucleus; negative regulation of apoptotic process;
CTNND1	6	cytosol; regulation of transcription, DNA-dependent; transcription, DNA-dependent; protein binding; nucleus; Wnt receptor signaling pathway;
EEF1D	6	cytosol; regulation of transcription, DNA-dependent; transcription, DNA-dependent; protein binding; nucleus; signal transduction;
FGF4	6	cytosol; nucleus; negative regulation of apoptotic process; signal transduction; positive regulation of cell proliferation; insulin receptor signaling pathway;
HSPA8	6	cytosol; transcription, DNA-dependent; ATP binding; protein binding; nucleus; intracellular;
XRCC5	6	transcription, DNA-dependent; ATP binding; protein binding; nucleus; negative regulation of apoptotic process; protein C-terminus binding;
DAB2	6	protein binding; nucleus; apical plasma membrane; negative regulation of apoptotic process; protein C-terminus binding; Wnt receptor signaling pathway;
ACACA	5	metal ion binding; cytosol; ATP binding; protein binding; fatty acid biosynthetic process;
ITK	5	metal ion binding; cytosol; ATP binding; protein binding; signal transduction;
JMJD1C	5	metal ion binding; regulation of transcription, DNA-dependent; transcription, DNA-dependent; protein binding; intracellular;
KAT5	5	metal ion binding; cytosol; transcription, DNA-dependent; protein binding; nucleus;
RNASEL	5	metal ion binding; protein kinase activity; cytosol; ATP binding; protein phosphorylation;
PHKG2	5	tau-protein kinase activity; glucose metabolic process; cytosol; ATP binding; protein phosphorylation;
ADRA2A	5	negative regulation of lipid catabolic process; protein binding; glucose homeostasis; signal transduction; positive regulation of cell proliferation;
SQSTM1	5	protein heterooligomerization; cytosol; protein binding; response to stress; autophagy;
STXBP3	5	protein heterooligomerization; cytosol; protein binding; nucleus; apical plasma membrane;
IL18	5	cellular response to hydrogen peroxide; response to hypoxia; cytosol; apical plasma membrane; positive regulation of gene expression;
BAD	5	cellular response to hypoxia; cytosol; protein binding; glucose homeostasis; positive regulation of autophagy;
EGLN3	5	cellular response to hypoxia; response to hypoxia; cytosol; protein binding; nucleus;
GATA6	5	cellular response to hypoxia; chromatin binding; protein binding; nucleus; negative regulation of apoptotic process;
PMAIP1	5	cellular response to hypoxia; cytosol; protein binding; nucleus; cellular response to glucose starvation;
UBB	5	cellular response to hypoxia; activation of MAPK activity; cytosol; transcription, DNA-dependent; protein binding;
UBC	5	cellular response to hypoxia; activation of MAPK activity; cytosol; transcription, DNA-dependent; protein binding;
ADRBK1	5	protein kinase activity; cytosol; ATP binding; protein binding; signal transduction;
CCND1	5	protein kinase activity; cytosol; protein binding; nucleus; intracellular;
MAP3K11	5	protein kinase activity; activation of MAPK activity; ATP binding; protein binding; protein phosphorylation;
PIK3C3	5	protein kinase activity; cytosol; ATP binding; protein binding; insulin receptor signaling pathway;
PIK3CG	5	protein kinase activity; cytosol; ATP binding; protein binding; negative regulation of apoptotic process;
SYK	5	protein kinase activity; cytosol; ATP binding; protein binding; protein phosphorylation;
KDM1A	5	chromatin binding; transcription, DNA-dependent; protein binding; nucleus; negative regulation of apoptotic process;
MED1	5	chromatin binding; protein binding; nucleus; negative regulation of apoptotic process; positive regulation of gene expression;
SMC3	5	chromatin binding; ATP binding; protein binding; nucleus; signal transduction;
TFAP2A	5	chromatin binding; protein binding; nucleus; negative regulation of apoptotic process; positive regulation of gene expression;
NR4A2	5	response to hypoxia; transcription, DNA-dependent; protein binding; nucleus; signal transduction;
TH	5	response to hypoxia; cytosol; protein binding; nucleus; response to activity;
MAP2K3	5	activation of MAPK activity; cytosol; ATP binding; protein binding; signal transduction;
IGF2	5	glucose metabolic process; regulation of transcription, DNA-dependent; protein binding; positive regulation of cell proliferation; insulin receptor signaling pathway;
AKAP7	5	cytosol; protein binding; nucleus; apical plasma membrane; protein C-terminus binding;
APC	5	cytosol; protein binding; nucleus; negative regulation of apoptotic process; cell cycle arrest;
BAIAP2	5	cytosol; protein binding; nucleus; protein C-terminus binding; insulin receptor signaling pathway;
CBL	5	cytosol; regulation of transcription, DNA-dependent; protein binding; nucleus; negative regulation of apoptotic process;
DAXX	5	cytosol; regulation of transcription, DNA-dependent; transcription, DNA-dependent; protein binding; nucleus;
FYB	5	cytosol; protein binding; nucleus; signal transduction; protein phosphorylation;
GSTP1	5	cytosol; protein binding; nucleus; intracellular; negative regulation of apoptotic process;
HABP4	5	cytosol; regulation of transcription, DNA-dependent; transcription, DNA-dependent; protein binding; nucleus;
HMGA1	5	cytosol; regulation of transcription, DNA-dependent; transcription, DNA-dependent; protein binding; nucleus;
MAPK9	5	cytosol; ATP binding; protein binding; response to stress; positive regulation of gene expression;
NEDD4L	5	cytosol; transcription, DNA-dependent; protein binding; nucleus; intracellular;
PIK3R1	5	cytosol; protein binding; negative regulation of apoptotic process; protein phosphorylation; insulin receptor signaling pathway;
PRKG1	5	cytosol; ATP binding; protein binding; signal transduction; protein phosphorylation;
RPTOR	5	cytosol; protein binding; cellular response to nutrient levels; cell cycle arrest; insulin receptor signaling pathway;
RQCD1	5	cytosol; regulation of transcription, DNA-dependent; transcription, DNA-dependent; protein binding; nucleus;
TNFAIP3	5	cytosol; protein binding; nucleus; kinase binding; negative regulation of apoptotic process;
TXN	5	cytosol; transcription, DNA-dependent; protein binding; signal transduction; response to activity;
WASL	5	cytosol; regulation of transcription, DNA-dependent; transcription, DNA-dependent; protein binding; nucleus;
CTNND2	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; protein binding; nucleus; signal transduction;
HBP1	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; nucleus; cell cycle arrest; Wnt receptor signaling pathway;
IGHMBP2	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; ATP binding; protein binding; nucleus;
LPXN	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; protein binding; nucleus; signal transduction;
RPS6KA4	5	regulation of transcription, DNA-dependent; ATP binding; protein binding; nucleus; protein phosphorylation;
ATF6	5	transcription, DNA-dependent; protein binding; nucleus; signal transduction; response to stress;
ERN2	5	transcription, DNA-dependent; ATP binding; response to stress; cell cycle arrest; protein phosphorylation;
FLT4	5	ATP binding; protein binding; nucleus; negative regulation of apoptotic process; positive regulation of cell proliferation;
FRK	5	ATP binding; protein binding; nucleus; intracellular; protein phosphorylation;
HSPA5	5	ATP binding; protein binding; nucleus; negative regulation of apoptotic process; cellular response to glucose starvation;
NEK6	5	ATP binding; protein binding; nucleus; signal transduction; protein phosphorylation;
SIK2	5	ATP binding; protein binding; nucleus; protein phosphorylation; insulin receptor signaling pathway;
BARD1	5	protein binding; nucleus; kinase binding; negative regulation of apoptotic process; cell cycle arrest;
FLCN	5	protein binding; nucleus; negative regulation of TOR signaling cascade; response to stress; positive regulation of gene expression;

Genes shared at least 2 KEGG pathways with PRKAA1 (count: 13)

Gene Symbol	Pathway Count	Pathway List
PRKAB2	3	Hypertrophic cardiomyopathy (HCM); Adipocytokine signaling pathway; Insulin signaling pathway;
PRKAG2	3	Hypertrophic cardiomyopathy (HCM); Adipocytokine signaling pathway; Insulin signaling pathway;
PRKAG3	3	Hypertrophic cardiomyopathy (HCM); Adipocytokine signaling pathway; Insulin signaling pathway;
INS	3	Insulin signaling pathway; Regulation of autophagy; mTOR signaling pathway;
MAPK9	2	Adipocytokine signaling pathway; Insulin signaling pathway;
MAPK1	2	Insulin signaling pathway; mTOR signaling pathway;
MAPK3	2	Insulin signaling pathway; mTOR signaling pathway;
PIK3CG	2	Insulin signaling pathway; mTOR signaling pathway;
PIK3R1	2	Insulin signaling pathway; mTOR signaling pathway;
RPS6KB2	2	Insulin signaling pathway; mTOR signaling pathway;
RPTOR	2	Insulin signaling pathway; mTOR signaling pathway;
TSC1	2	Insulin signaling pathway; mTOR signaling pathway;
ULK2	2	Regulation of autophagy; mTOR signaling pathway;

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Region: chr5:40759481..40798476 View in gBrowse