ADHDgene Database

Gene Report

Basic Info

Approved Symbol	ACACA
Previous Symbol	ACAC, ACC
Symbol Alias	ACC1
Approved Name	acetyl-CoA carboxylase alpha
Previous Name	acetyl-Coenzyme A carboxylase alpha
Name Alias	acetyl-CoA carboxylase 1
Location	17q21
Position	chr17:35441923-35766902, -
External Links	HGNC: 84 Entrez Gene: 31 Ensembl: ENSG00000132142 UCSC: uc002hno.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 3)

ID	Location	Size	Band	Type	Inheritance
CNV_Elia[2010]_191	chr17:31889664-33323543 (NCBI Build 35 (hg17))	1774728	17q12	Deletion (hemizygous)	Paternal
CNV_Williams[2010]_7	chr17:31964475-33297438 (NCBI Build 36.1 (hg18))	1278621	17q12	Gain	Paternal
CNV_Williams[2010]_8	chr17:31979521-33318471 (NCBI Build 36.1 (hg18))	1276993	17q12	Loss

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 20)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0006112	energy reserve metabolic process	Biological Process		25
GO:0006084	acetyl-CoA metabolic process	Biological Process		1
GO:0005829	cytosol	Cellular Component		447
GO:0005739	mitochondrion	Cellular Component		183
GO:0005524	ATP binding	Molecular Function		228
GO:0005515	protein binding	Molecular Function	IPI[16794074]	910
GO:0004075	biotin carboxylase activity	Molecular Function		2
GO:0003989	acetyl-CoA carboxylase activity	Molecular Function		1
GO:0001894	tissue homeostasis	Biological Process		6
GO:2001295	malonyl-CoA biosynthetic process	Biological Process		1
GO:0051289	protein homotetramerization	Biological Process		9
GO:0055088	lipid homeostasis	Biological Process		4
GO:0044281	small molecule metabolic process	Biological Process		248
GO:0046872	metal ion binding	Molecular Function		170
GO:0044255	cellular lipid metabolic process	Biological Process		30
GO:0044268	multicellular organismal protein metabolic process	Biological Process		1
GO:0031325	positive regulation of cellular metabolic process	Biological Process		1
GO:0035338	long-chain fatty-acyl-CoA biosynthetic process	Biological Process		4
GO:0006633	fatty acid biosynthetic process	Biological Process		16
GO:0019432	triglyceride biosynthetic process	Biological Process		12

Gene related KEGG pathways (count: 5)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa01100	Metabolic pathways	237
hsa00061	Fatty acid biosynthesis	1
hsa00620	Pyruvate metabolism	7
hsa00640	Propanoate metabolism	5
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...

Genes shared at least 5 GO terms with ACACA (count: 10)

Gene Symbol	Pathway Count	Pathway List
PRKAB2	6	energy reserve metabolic process; cytosol; protein binding; small molecule metabolic process; cellular lipid metabolic process; fatty acid biosynthetic process;
PRKAG2	6	energy reserve metabolic process; cytosol; ATP binding; small molecule metabolic process; cellular lipid metabolic process; fatty acid biosynthetic process;
ADCY4	5	energy reserve metabolic process; ATP binding; protein binding; small molecule metabolic process; metal ion binding;
FBP1	5	cytosol; protein binding; protein homotetramerization; small molecule metabolic process; metal ion binding;
HK1	5	cytosol; mitochondrion; ATP binding; protein binding; small molecule metabolic process;
PRKAA1	5	cytosol; ATP binding; protein binding; metal ion binding; fatty acid biosynthetic process;
PRKD1	5	cytosol; ATP binding; protein binding; small molecule metabolic process; metal ion binding;
PC	5	mitochondrion; ATP binding; biotin carboxylase activity; small molecule metabolic process; metal ion binding;
ELOVL6	5	protein binding; small molecule metabolic process; cellular lipid metabolic process; long-chain fatty-acyl-CoA biosynthetic process; triglyceride biosynthetic process;
ELOVL7	5	protein binding; small molecule metabolic process; cellular lipid metabolic process; long-chain fatty-acyl-CoA biosynthetic process; triglyceride biosynthetic process;

Genes shared at least 2 KEGG pathways with ACACA (count: 11)

Gene Symbol	Pathway Count	Pathway List
ACAT1	3	Metabolic pathways; Pyruvate metabolism; Propanoate metabolism;
ALDH3A2	3	Metabolic pathways; Pyruvate metabolism; Propanoate metabolism;
DLAT	2	Metabolic pathways; Pyruvate metabolism;
ECHS1	2	Metabolic pathways; Propanoate metabolism;
FBP1	2	Metabolic pathways; Insulin signaling pathway;
FBP2	2	Metabolic pathways; Insulin signaling pathway;
HK1	2	Metabolic pathways; Insulin signaling pathway;
HKDC1	2	Metabolic pathways; Insulin signaling pathway;
ME3	2	Metabolic pathways; Pyruvate metabolism;
MLYCD	2	Metabolic pathways; Propanoate metabolism;
PC	2	Metabolic pathways; Pyruvate metabolism;

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Region: chr17:35441923..35766902 View in gBrowse