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	ABCA1
Previous Symbol	ABC1, HDLDT1
Symbol Alias	TGD
Approved Name	ATP-binding cassette, sub-family A (ABC1), member 1
Name Alias	Tangier disease
Location	9q31
Position	chr9:107543283-107690518, -
External Links	HGNC: 29 Entrez Gene: 19 Ensembl: ENSG00000165029 UCSC: uc004bcl.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_Jarick[2012]_20	chr9:106634185-107206459 (NCBI36 / hg18)	572275	9q31.1-9q31.2	dup

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
9q31.1-33.1	chr9:102600000-122500000	1 (1/0/0)

Gene related GO terms (count: 50)

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

GO terms by database search (count: 50)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0071300	cellular response to retinoic acid	Biological Process		7
GO:0045332	phospholipid translocation	Biological Process		4
GO:0045121	membrane raft	Cellular Component	IDA[15469992]	22
GO:0050702	interleukin-1 beta secretion	Biological Process	IMP[11855831]	1
GO:0045335	phagocytic vesicle	Cellular Component	IDA[15469992]	4
GO:0055098	response to low-density lipoprotein particle stimulus	Biological Process	IEP[15358760]	1
GO:0055091	phospholipid homeostasis	Biological Process	IMP[16702602]	3
GO:0071222	cellular response to lipopolysaccharide	Biological Process		13
GO:0060155	platelet dense granule organization	Biological Process	IMP[15163665]	1
GO:0002790	peptide secretion	Biological Process		1
GO:0005886	plasma membrane	Cellular Component		772
GO:0005794	Golgi apparatus	Cellular Component		157
GO:0006497	protein lipidation	Biological Process		1
GO:0005887	integral to plasma membrane	Cellular Component	IDA[10525055]	220
GO:0005524	ATP binding	Molecular Function	IDA[11700048]	228
GO:0005515	protein binding	Molecular Function	IPI[12084722]	910
GO:0005548	phospholipid transporter activity	Molecular Function	IDA[16702602]	2
GO:0005543	phospholipid binding	Molecular Function	IC[16702602]	61
GO:0010745	negative regulation of macrophage derived foam cell differentiation	Biological Process	TAS[18490524]	1
GO:0010875	positive regulation of cholesterol efflux	Biological Process		2
GO:0008203	cholesterol metabolic process	Biological Process	IDA[14747463]	16
GO:0008509	anion transmembrane transporter activity	Molecular Function		2
GO:0007040	lysosome organization	Biological Process	IDA[15163665]	7
GO:0007186	G-protein coupled receptor signaling pathway	Biological Process	IMP[16443932]	72
GO:0006629	lipid metabolic process	Biological Process		51
GO:0006911	phagocytosis, engulfment	Biological Process		1
GO:0030139	endocytic vesicle	Cellular Component	IDA[14747463]	12
GO:0030819	positive regulation of cAMP biosynthetic process	Biological Process	IMP[14701824]	7
GO:0017127	cholesterol transporter activity	Molecular Function	IDA[12084722]	5
GO:0019905	syntaxin binding	Molecular Function	IPI[15469992]	6
GO:0016197	endosomal transport	Biological Process	IDA[14747463]	11
GO:0016887	ATPase activity	Molecular Function		14
GO:0010887	negative regulation of cholesterol storage	Biological Process	TAS[18490524]	1
GO:0015485	cholesterol binding	Molecular Function	IC[12084722]	10
GO:0034188	apolipoprotein A-I receptor activity	Molecular Function	IDA[16443932]	1
GO:0034186	apolipoprotein A-I binding	Molecular Function	IPI[11162594]	2
GO:0034185	apolipoprotein binding	Molecular Function	IPI[11162594]	5
GO:0033700	phospholipid efflux	Biological Process	IDA[11162594]; IMP[16702602]	5
GO:0033344	cholesterol efflux	Biological Process	IDA[11162594]; IMP[16443932]	8
GO:0032489	regulation of Cdc42 protein signal transduction	Biological Process	IMP[16443932]	3
GO:0032367	intracellular cholesterol transport	Biological Process	IMP[10431236]	2
GO:0031267	small GTPase binding	Molecular Function	IPI[16443932]	3
GO:0044281	small molecule metabolic process	Biological Process		248
GO:0044255	cellular lipid metabolic process	Biological Process		30
GO:0043691	reverse cholesterol transport	Biological Process	IMP[10431236]	7
GO:0042632	cholesterol homeostasis	Biological Process	IDA[10431236]	18
GO:0042157	lipoprotein metabolic process	Biological Process		11
GO:0038027	apolipoprotein A-I-mediated signaling pathway	Biological Process	IDA[16443932]	1
GO:0034616	response to laminar fluid shear stress	Biological Process	IEP[15358760]	3
GO:0034380	high-density lipoprotein particle assembly	Biological Process	IMP[17305370]	2

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa02010	ABC transporters	7	The ATP-binding cassette (ABC) transporters form one of the ...... The ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of a wide variety of substrates such as ions, sugars, lipids, sterols, peptides, proteins, and drugs. The structure of a prokaryotic ABC transporter usually consists of three components; typically two integral membrane proteins each having six transmembrane segments, two peripheral proteins that bind and hydrolyze ATP, and a periplasmic (or lipoprotein) substrate-binding protein. Many of the genes for the three components form operons as in fact observed in many bacterial and archaeal genomes. On the other hand, in a typical eukaryotic ABC transporter, the membrane spanning protein and the ATP-binding protein are fused, forming a multi-domain protein with the membrane-spanning domain (MSD) and the nucleotide-binding domain (NBD). More...
hsa04975	Fat digestion and absorption	19	Fat is an important energy source from food. More than 95% o...... Fat is an important energy source from food. More than 95% of dietary fat is long-chain triacylglycerols (TAG), the remaining being phospholipids (4.5%) and sterols. In the small intestine lumen, dietary TAG is hydrolyzed to fatty acids (FA) and monoacylglycerols (MAG) by pancreatic lipase. These products are then emulsified with the help of phospholipids (PL) and bile acids (BA) present in bile to form micelles. Free FAs and MAGs are taken up by the enterocyte where they are rapidly resynthesized in endoplasmic reticulum (ER) to form TAG. PLs from the diet as well as bile - mainly LPA - too are absorbed by the enterocyte and are acylated to form phosphatidic acid (PA), which is also converted into TAG. Absorbed cholesterol (CL) is acylated to cholesterol esters (CE). Within the ER, TAG joins CE and apolipoprotein B (ApoB) to form chylomicrons that enter circulation through the lymph. More...

Genes shared at least 5 GO terms with ABCA1 (count: 25)

Gene Symbol	Pathway Count	Pathway List
APOA1	20	phospholipid homeostasis; plasma membrane; protein binding; phospholipid transporter activity; phospholipid binding; cholesterol metabolic process; G-protein coupled receptor signaling pathway; lipid metabolic process; endocytic vesicle; cholesterol transporter activity; cholesterol binding; phospholipid efflux; cholesterol efflux; regulation of Cdc42 protein signal transduction; small molecule metabolic process; cellular lipid metabolic process; reverse cholesterol transport; cholesterol homeostasis; lipoprotein metabolic process; high-density lipoprotein particle assembly;
APOC3	12	phospholipid binding; cholesterol metabolic process; G-protein coupled receptor signaling pathway; lipid metabolic process; cholesterol binding; phospholipid efflux; cholesterol efflux; regulation of Cdc42 protein signal transduction; small molecule metabolic process; reverse cholesterol transport; cholesterol homeostasis; lipoprotein metabolic process;
SCARB1	10	plasma membrane; integral to plasma membrane; lipid metabolic process; apolipoprotein A-I binding; apolipoprotein binding; cholesterol efflux; small molecule metabolic process; reverse cholesterol transport; cholesterol homeostasis; lipoprotein metabolic process;
APOA4	9	cholesterol metabolic process; lipid metabolic process; cholesterol transporter activity; phospholipid efflux; cholesterol efflux; small molecule metabolic process; reverse cholesterol transport; cholesterol homeostasis; lipoprotein metabolic process;
NPC1	8	membrane raft; Golgi apparatus; integral to plasma membrane; protein binding; cholesterol metabolic process; cholesterol binding; cholesterol efflux; cholesterol homeostasis;
CUBN	7	plasma membrane; Golgi apparatus; cholesterol metabolic process; lipid metabolic process; endocytic vesicle; small molecule metabolic process; lipoprotein metabolic process;
PRKD1	7	plasma membrane; Golgi apparatus; integral to plasma membrane; ATP binding; protein binding; phospholipid binding; small molecule metabolic process;
APOC2	7	lipid metabolic process; phospholipid efflux; cholesterol efflux; small molecule metabolic process; reverse cholesterol transport; cholesterol homeostasis; lipoprotein metabolic process;
ATP8B1	6	phospholipid translocation; plasma membrane; integral to plasma membrane; ATP binding; protein binding; ATPase activity;
LAMTOR1	6	membrane raft; plasma membrane; Golgi apparatus; protein binding; lysosome organization; cholesterol homeostasis;
LPAR1	6	plasma membrane; integral to plasma membrane; protein binding; phospholipid binding; G-protein coupled receptor signaling pathway; endocytic vesicle;
LPL	6	plasma membrane; protein binding; lipid metabolic process; apolipoprotein binding; small molecule metabolic process; lipoprotein metabolic process;
APOA5	6	protein binding; phospholipid binding; small molecule metabolic process; cellular lipid metabolic process; cholesterol homeostasis; lipoprotein metabolic process;
SLC6A4	5	cellular response to retinoic acid; membrane raft; plasma membrane; integral to plasma membrane; protein binding;
GJA1	5	membrane raft; plasma membrane; Golgi apparatus; integral to plasma membrane; protein binding;
CCR5	5	cellular response to lipopolysaccharide; plasma membrane; integral to plasma membrane; protein binding; G-protein coupled receptor signaling pathway;
ABCC1	5	plasma membrane; Golgi apparatus; integral to plasma membrane; ATP binding; ATPase activity;
ABCG4	5	plasma membrane; ATP binding; cholesterol transporter activity; ATPase activity; cholesterol efflux;
ADRA2A	5	plasma membrane; integral to plasma membrane; protein binding; G-protein coupled receptor signaling pathway; small molecule metabolic process;
ADRA2C	5	plasma membrane; integral to plasma membrane; protein binding; G-protein coupled receptor signaling pathway; small molecule metabolic process;
DRD3	5	plasma membrane; integral to plasma membrane; protein binding; G-protein coupled receptor signaling pathway; endocytic vesicle;
EHD1	5	plasma membrane; ATP binding; protein binding; endocytic vesicle; cholesterol homeostasis;
MC2R	5	plasma membrane; integral to plasma membrane; protein binding; G-protein coupled receptor signaling pathway; positive regulation of cAMP biosynthetic process;
PIK3CG	5	plasma membrane; ATP binding; protein binding; G-protein coupled receptor signaling pathway; small molecule metabolic process;
PTCH1	5	plasma membrane; Golgi apparatus; protein binding; positive regulation of cholesterol efflux; cholesterol binding;

Genes shared at least 2 KEGG pathways with ABCA1 (count: 0)

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Region: chr9:107543283..107690518 View in gBrowse