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	ABCC1
Previous Symbol	MRP, MRP1
Symbol Alias	GS-X
Approved Name	ATP-binding cassette, sub-family C (CFTR/MRP), member 1
Previous Name	multidrug resistance associated protein 1
Location	16p13.1
Position	chr16:16043434-16236931, +
External Links	HGNC: 51 Entrez Gene: 4363 Ensembl: ENSG00000103222 UCSC: uc010bvi.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: 9)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_20	chr16:15408600-16190572 (NCBI Build 36.1 (hg18))	788434	16p13.11	Gain
CNV_Williams[2010]_53	chr16:15387380-16197033 (NCBI Build 36.1 (hg18))	809654	16p13.11	Gain	De novo
CNV_Williams[2010]_23	chr16:15387380-16190572 (NCBI Build 36.1 (hg18))	797807	16p13.11	Gain
CNV_Williams[2010]_21	chr16:15156431-18174650 (NCBI Build 36.1 (hg18))	3006995	16p13.11-16p12.3	Gain
CNV_Williams[2010]_42	chr16:15387380-16197033 (NCBI Build 36.1 (hg18))	809654	16p13.11	Gain
CNV_Jarick[2012]_33	chr16:15387380-16197033 (NCBI36 / hg18)	809654	16p13.11	del
CNV_Jarick[2012]_32	chr16:15034391-16197033 (NCBI36 / hg18)	1162643	16p13.11	dup
CNV_Jarick[2012]_31	chr16:15032942-16197033 (NCBI36 / hg18)	1164092	16p13.11	del
CNV_Williams[2010]_4	chr16:15398985-18174650 (NCBI Build 36.1 (hg18))	2775666	16p13.11-16p12.3	Gain	Maternal

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
16p13.11	chr16:14800000-16800000	1 (1/0/0)

Gene related GO terms (count: 14)

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

GO terms by database search (count: 14)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005634	nucleus	Cellular Component		770
GO:0005524	ATP binding	Molecular Function		228
GO:0005215	transporter activity	Molecular Function	TAS[1360704]	41
GO:0055085	transmembrane transport	Biological Process		82
GO:0042493	response to drug	Biological Process	TAS[1360704]	68
GO:0042626	ATPase activity, coupled to transmembrane movement of substances	Molecular Function		3
GO:0005886	plasma membrane	Cellular Component		772
GO:0005887	integral to plasma membrane	Cellular Component		220
GO:0005730	nucleolus	Cellular Component		243
GO:0005794	Golgi apparatus	Cellular Component		157
GO:0016020	membrane	Cellular Component	TAS[1360704]	139
GO:0016887	ATPase activity	Molecular Function	IDA[15999530]	14
GO:0006200	ATP catabolic process	Biological Process	IDA[15999530]	6
GO:0006810	transport	Biological Process	TAS[1360704]	62

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...
hsa04977	Vitamin digestion and absorption	7	Vitamins are a diverse and chemically unrelated group of org...... Vitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactions. Because humans and other mammals cannot synthesize these compounds (except for some synthesis of niacin), they must obtain them from exogenous sources via intestinal absorption. Vitamins are classified based on their solubility in water or fat. Most of the water-soluble vitamins are transported across the small intestinal membrane by carrier-mediated mechanisms, but vitamin B12, cobalamin, is transported by a receptor-mediated mechanism. Intestinal absorption of fat-soluble vitamins requires all of the processes needed for fat absorption. After digestion, these vitamins and the products of pancreatic hydrolysis of triglycerides (TG) are emulsified by bile salts to form mixed micelles which are taken up by intestinal enterocytes and incorporated into chylomicrons (CM). CM are then secreted into the lymphatic system, and finally moves into the plasma. More...

Genes shared at least 5 GO terms with ABCC1 (count: 16)

Gene Symbol	Pathway Count	Pathway List
ABCC6	7	ATP binding; transporter activity; transmembrane transport; response to drug; ATPase activity, coupled to transmembrane movement of substances; plasma membrane; transport;
ABCG2	7	ATP binding; transporter activity; transmembrane transport; response to drug; ATPase activity, coupled to transmembrane movement of substances; plasma membrane; transport;
CHD1L	6	nucleus; ATP binding; plasma membrane; nucleolus; ATPase activity; ATP catabolic process;
SLC30A5	6	nucleus; transmembrane transport; integral to plasma membrane; nucleolus; Golgi apparatus; membrane;
ATP8B1	6	ATP binding; transmembrane transport; plasma membrane; integral to plasma membrane; ATPase activity; ATP catabolic process;
GSK3B	5	nucleus; ATP binding; response to drug; plasma membrane; nucleolus;
PERP	5	nucleus; plasma membrane; integral to plasma membrane; nucleolus; Golgi apparatus;
PRKD1	5	nucleus; ATP binding; plasma membrane; integral to plasma membrane; Golgi apparatus;
ABCA1	5	ATP binding; plasma membrane; integral to plasma membrane; Golgi apparatus; ATPase activity;
ABCB6	5	ATP binding; transmembrane transport; plasma membrane; Golgi apparatus; transport;
P2RX3	5	ATP binding; integral to plasma membrane; Golgi apparatus; membrane; transport;
GABRA5	5	transporter activity; transmembrane transport; plasma membrane; integral to plasma membrane; transport;
SLC4A3	5	transmembrane transport; plasma membrane; integral to plasma membrane; membrane; transport;
SLC6A1	5	transmembrane transport; plasma membrane; integral to plasma membrane; membrane; transport;
SLC6A2	5	transmembrane transport; plasma membrane; integral to plasma membrane; membrane; transport;
SLC6A3	5	transmembrane transport; response to drug; plasma membrane; integral to plasma membrane; transport;

Genes shared at least 2 KEGG pathways with ABCC1 (count: 0)

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Region: chr16:16043434..16236931 View in gBrowse