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	ACAT1
Previous Symbol	ACAT
Symbol Alias	THIL
Approved Name	acetyl-CoA acetyltransferase 1
Previous Name	acetyl-Coenzyme A acetyltransferase 1
Name Alias	acetoacetyl Coenzyme A thiolase
Location	11q22.3
Position	chr11:107992243-108018895, +
External Links	HGNC: 93 Entrez Gene: 38 Ensembl: ENSG00000075239 UCSC: uc001pjy.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV; Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Elia[2010]_143	chr11:107520009-107885084 (NCBI Build 35 (hg17))	365076	11q22.3	Duplication	Paternal

Gene related other variant (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (significant/non-significant/trend)
11q	chr11:53700000-135006516	2 (1/1/0)
11q22	chr11:97200000-110400000	1 (1/0/0)

Gene related GO terms (count: 23)

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

GO terms by database search (count: 23)

ID	Name	Type	No. of Genes in ADHDgene
GO:0019899	enzyme binding	Molecular Function	47
GO:0014070	response to organic cyclic compound	Biological Process	7
GO:0009725	response to hormone stimulus	Biological Process	11
GO:0009083	branched-chain amino acid catabolic process	Biological Process	5
GO:0044255	cellular lipid metabolic process	Biological Process	30
GO:0042803	protein homodimerization activity	Molecular Function	113
GO:0042594	response to starvation	Biological Process	6
GO:0034641	cellular nitrogen compound metabolic process	Biological Process	30
GO:0046951	ketone body biosynthetic process	Biological Process	1
GO:0046950	cellular ketone body metabolic process	Biological Process	2
GO:0046872	metal ion binding	Molecular Function	170
GO:0044281	small molecule metabolic process	Biological Process	248
GO:0060612	adipose tissue development	Biological Process	7
GO:0051260	protein homooligomerization	Biological Process	34
GO:0050662	coenzyme binding	Molecular Function	3
GO:0046952	ketone body catabolic process	Biological Process	2
GO:0072229	metanephric proximal convoluted tubule development	Biological Process	1
GO:0001889	liver development	Biological Process	14
GO:0003985	acetyl-CoA C-acetyltransferase activity	Molecular Function	1
GO:0005759	mitochondrial matrix	Cellular Component	32
GO:0007420	brain development	Biological Process	33
GO:0005739	mitochondrion	Cellular Component	183
GO:0005743	mitochondrial inner membrane	Cellular Component	44

Gene related KEGG pathways (count: 11)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa00630	Glyoxylate and dicarboxylate metabolism	1
hsa00310	Lysine degradation	9
hsa00650	Butanoate metabolism	9
hsa00380	Tryptophan metabolism	12
hsa00900	Terpenoid backbone biosynthesis	2	Terpenoids, also known as isoprenoids, are a large class of ...... Terpenoids, also known as isoprenoids, are a large class of natural products consisting of isoprene (C5) units. There are two biosynthetic pathways, the mevalonate pathway [MD:M00095] and the non-mevalonate pathway or the MEP/DOXP pathway [MD:M00096], for the terpenoid building blocks: isopentenyl diphosphate (IPP) and dimethylallyl diphosphate (DMAPP). The action of prenyltransferases then generates higher-order building blocks: geranyl diphosphate (GPP), farsenyl diphosphate (FPP), and geranylgeranyl diphosphate (GGPP), which are the precursors of monoterpenoids (C10), sesquiterpenoids (C15), and diterpenoids (C20), respectively. Condensation of these building blocks gives rise to the precursors of sterols (C30) and carotenoids (C40). The MEP/DOXP pathway is absent in higher animals and fungi, but in green plants the MEP/DOXP and mevalonate pathways co-exist in separate cellular compartments. The MEP/DOXP pathway, operating in the plastids, is responsible for the formation of essential oil monoterpenes and linalyl acetate, some sesquiterpenes, diterpenes, and carotenoids and phytol. The mevalonate pathway, operating in the cytosol, gives rise to triterpenes, sterols, and most sesquiterpenes. More...
hsa01100	Metabolic pathways	237
hsa00620	Pyruvate metabolism	7
hsa00640	Propanoate metabolism	5
hsa00280	Valine, leucine and isoleucine degradation	7
hsa00071	Fatty acid metabolism	4
hsa00072	Synthesis and degradation of ketone bodies	2

Genes shared at least 5 GO terms with ACAT1 (count: 7)

Gene Symbol	Pathway Count	Pathway List
OXCT1	11	response to hormone stimulus; cellular lipid metabolic process; protein homodimerization activity; response to starvation; cellular ketone body metabolic process; small molecule metabolic process; adipose tissue development; ketone body catabolic process; mitochondrial matrix; brain development; mitochondrion;
CPT1A	6	response to organic cyclic compound; cellular lipid metabolic process; small molecule metabolic process; protein homooligomerization; mitochondrion; mitochondrial inner membrane;
NCOA6	5	enzyme binding; response to hormone stimulus; cellular lipid metabolic process; small molecule metabolic process; brain development;
UGT1A1	5	enzyme binding; protein homodimerization activity; response to starvation; small molecule metabolic process; liver development;
AUH	5	branched-chain amino acid catabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process; mitochondrial matrix; mitochondrion;
HIBADH	5	branched-chain amino acid catabolic process; cellular nitrogen compound metabolic process; small molecule metabolic process; mitochondrial matrix; mitochondrion;
PC	5	metal ion binding; small molecule metabolic process; mitochondrial matrix; mitochondrion; mitochondrial inner membrane;

Genes shared at least 2 KEGG pathways with ACAT1 (count: 26)

Gene Symbol	Pathway Count	Pathway List
ALDH3A2	7	Lysine degradation; Tryptophan metabolism; Metabolic pathways; Pyruvate metabolism; Propanoate metabolism; Valine, leucine and isoleucine degradation; Fatty acid metabolism;
ECHS1	7	Lysine degradation; Butanoate metabolism; Tryptophan metabolism; Metabolic pathways; Propanoate metabolism; Valine, leucine and isoleucine degradation; Fatty acid metabolism;
OXCT1	3	Butanoate metabolism; Valine, leucine and isoleucine degradation; Synthesis and degradation of ketone bodies;
ACACA	3	Metabolic pathways; Pyruvate metabolism; Propanoate metabolism;
ACSM1	2	Butanoate metabolism; Metabolic pathways;
ACSM2A	2	Butanoate metabolism; Metabolic pathways;
ACSM2B	2	Butanoate metabolism; Metabolic pathways;
ACSM3	2	Butanoate metabolism; Metabolic pathways;
ACSM5	2	Butanoate metabolism; Metabolic pathways;
AANAT	2	Tryptophan metabolism; Metabolic pathways;
ASMT	2	Tryptophan metabolism; Metabolic pathways;
DDC	2	Tryptophan metabolism; Metabolic pathways;
HAAO	2	Tryptophan metabolism; Metabolic pathways;
MAOA	2	Tryptophan metabolism; Metabolic pathways;
MAOB	2	Tryptophan metabolism; Metabolic pathways;
TDO2	2	Tryptophan metabolism; Metabolic pathways;
TPH1	2	Tryptophan metabolism; Metabolic pathways;
TPH2	2	Tryptophan metabolism; Metabolic pathways;
MVD	2	Terpenoid backbone biosynthesis; Metabolic pathways;
ACAD8	2	Metabolic pathways; Valine, leucine and isoleucine degradation;
AUH	2	Metabolic pathways; Valine, leucine and isoleucine degradation;
DLAT	2	Metabolic pathways; Pyruvate metabolism;
HIBADH	2	Metabolic pathways; Valine, leucine and isoleucine degradation;
ME3	2	Metabolic pathways; Pyruvate metabolism;
MLYCD	2	Metabolic pathways; Propanoate metabolism;
PC	2	Metabolic pathways; Pyruvate metabolism;

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Region: chr11:107992243..108018895 View in gBrowse