ABCG1 - ATP binding cassette subfamily G member 1 Gene

Also Known as ABC8; WHITE1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9619

About ABCG1

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:42,199,689-42,297,244 (from NCBI)

This gene has 11 transcripts (splice variants), 222 orthologues and 4 paralogues. Ubiquitous expression in spleen (RPKM 7.0), adrenal (RPKM 5.6) and 24 other tissues.

Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. It is involved in macrophage Cholesterol and Phospholipids transport, and may regulate cellular lipid homeostasis in Other cell types. Six alternative splice variants have been identified. [provided by RefSeq, Jul 2008]

ABCG1 Products (6)

mRNA	Protein	Name
NM_004915.4	NP_004906.3	ATP-binding cassette sub-family G member 1 isoform 4
NM_016818.3	NP_058198.2	ATP-binding cassette sub-family G member 1 isoform 2
NM_207174.1	NP_997057.1	ATP-binding cassette sub-family G member 1 isoform 3
NM_207627.2	NP_997510.1	ATP-binding cassette sub-family G member 1 isoform 5
NM_207628.1	NP_997511.1	ATP-binding cassette sub-family G member 1 isoform 6
NM_207629.2	NP_997512.1	ATP-binding cassette sub-family G member 1 isoform 7

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ABC-type sterol transporter activity	IDA IDA: Inferred from direct assay	17408620	GOA
enables ADP binding	IDA IDA: Inferred from direct assay	16702602	GOA
enables ATP binding	IDA IDA: Inferred from direct assay	16702602	GOA
enables cholesterol transfer activity	IDA IDA: Inferred from direct assay	15994327	GOA
enables floppase activity	IDA IDA: Inferred from direct assay	16702602	GOA
enables phosphatidylcholine floppase activity	IDA IDA: Inferred from direct assay	16702602	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16870176	GOA
enables protein heterodimerization activity	IPI IPI: Inferred from physical interaction	16870176	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	16702602	GOA
enables toxin transmembrane transporter activity	IDA IDA: Inferred from direct assay	17408620	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in amyloid precursor protein catabolic process	IDA IDA: Inferred from direct assay	17293612	GOA
involved in cholesterol efflux	IDA IDA: Inferred from direct assay	15994327	GOA
involved in cholesterol efflux	IMP IMP: Inferred from mutant phenotype	16702602	GOA
involved in cholesterol homeostasis	IDA IDA: Inferred from direct assay	15994327	GOA
involved in cholesterol homeostasis	IEP IEP: Inferred from expression pattern	11500512	GOA
involved in cholesterol metabolic process	IDA IDA: Inferred from direct assay	15994327	GOA
involved in glycoprotein transport	IDA IDA: Inferred from direct assay	17293612	GOA
involved in intracellular cholesterol transport	IMP IMP: Inferred from mutant phenotype	15994327	GOA
involved in phospholipid efflux	IMP IMP: Inferred from mutant phenotype	16702602	GOA
involved in phospholipid homeostasis	IMP IMP: Inferred from mutant phenotype	16702602	GOA
involved in positive regulation of amyloid-beta formation	IDA IDA: Inferred from direct assay	17293612	GOA
involved in positive regulation of protein secretion	IDA IDA: Inferred from direct assay	17293612	GOA
involved in response to lipid	IDA IDA: Inferred from direct assay	16556852	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in external side of plasma membrane	IDA IDA: Inferred from direct assay	16556852	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	22042635	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	16702602	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ABCG1 Protein Structure

ABC_tran

ABC2_membrane

0
200
400
600
678 a.a.

Protein Preferred Names	Protein Names
ATP-binding cassette sub-family G member 1	ABC transporter 8

ABCG1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82096	ABCG1 Antibody (YA1841)	WB	Human
HY-P82096A	ABCG1 Antibody (YA1841)(PBS only)	WB	Human

Related Diseases

Diseases	Alias
Tangier Disease	Analphalipoproteinemia High Density Lipoprotein Deficiency, Tangier Type TGD High Density Lipoprotein Deficiency, Type 1 Hdldt1 Familial High Density Lipoprotein Deficiency A-Alphalipoprotein Neuropathy Alpha High Density Lipoprotein Deficiency Disease Cholesterol Thesaurismosis Familial High Density Lipoprotein Deficiency Disease Hdl Lipoprotein Deficiency Disease Tangier Disease Neuropathy Familial Alpha-Lipoprotein Deficiency Familial High-Density Lipoprotein Deficiency 1 Primary Hypoalphalipoproteinemia 1 Analphalipo-Proteinemia Familial Hypoalphalipo-Proteinemia Familial Hypoalphalipoproteinemia Lipoprotein Deficiency Disease, Hdl, Familial Tangier Hereditary Neuropathy Atp-Binding Cassette Transporter A1 Deficiency Hdld1 High Density Lipoprotein Deficiency 1 Tangier Disease, Variant Hypoalphalipoproteinemia, Familial Familial Hdl Deficiency
Sitosterolemia	Phytosterolemia Beta-Sitosterolemia Plant Sterol Storage Disease Phytosterolæmia Sitosterolæmia Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body Phytosterolaemia Sitosterolaemia Sitosterolemia With Xanthomatosis
Pulmonary Alveolar Proteinosis
Hypolipoproteinemia	Hypolipoproteinaemia Lipoprotein Deficiencies Lipoprotein Disorder Hypolipoproteinemias Lipoprotein Lipoprotein Deficiency Hypolipidaemia Lipoprotein Deficiency Disorder High-Density Lipoid Deficiency High-Density Lipoprotein Deficiency Dyslipidaemia, Depressed Hdl Cholesterol
Atherosclerosis Susceptibility	Atherosclerosis Atherosclerosis, Susceptibility To ATHS Atherogenic Lipoprotein Phenotype Alp Arteriosclerosis
Hypoalphalipoproteinemia, Primary, 1	Familial Hdl Deficiency Fha High Density Lipoprotein Deficiency Familial Hypoalphalipoproteinemia Hypoalphalipoproteinemia, Familial Hdld Fhd Hdl Deficiency, Type 2 Primary Hypoalphalipoproteinemia 1 Hdl Cholesterol, Low Serum Hdlc Hdl Deficiency, Familial, 1 Hypoalphalipoproteinemia, Primary Low Serum Hdl Cholesterol Primary Hypoalphalipoproteinemia FHA1 Hdld2 High Density Lipoprotein Deficiency 2 Hypoalphalipoproteinemias Apolipoprotein A-I Deficiency
Aortic Atherosclerosis	Atherosclerosis Of Aorta Aorta Atheroma Aorta Calcification Aorta Arteriosclerosis Aortic Degeneration Aortic Calcification Aortic Atheroma Aortic Arteriosclerotic Disease Aortic Arteriosclerosis Aorta Sclerosis Aorta Degeneration Atheromatous Aortic Calcified Aortic Stenosis Atheromatous Aorta Arteriosclerotic Aortitis Arteriosclerotic Aortic Stenosis Arteriosclerotic Aorta Disease Aortic Sclerosis
Cardiovascular System Disease	Abnormality Of The Cardiovascular System Cardiovascular Disease Disease Of Subdivision Of Hemolymphoid System Disorder Of Cardiovascular System Cardiovascular Diseases
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Type 2 Diabetes Diabetes Mellitus, Non-Insulin-Dependent T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Lipid Metabolism Disorder	Dyslipidemia Disorder Of Fatty Acid Metabolism Lipid Metabolism Disorders Fatty Acid Metabolism Disorder Disorder Of Lipid Metabolism Abnormality Of Lipid Metabolism Lipid Metabolism, Inborn Errors Dyslipidemias Disorders Of Lipid Metabolism Congenital Disorders Of Lipid Metabolism Inherited Disorders Of Lipid Metabolism
Diabetes Mellitus	Diabetes
Niemann-Pick Disease, Type C1	Niemann-Pick Disease, Type C NPC1 Niemann-Pick Disease, Type D Niemann-Pick Disease Type C1 Niemann-Pick Disease With Cholesterol Esterification Block Niemann-Pick Disease, Subacute Juvenile Form Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia Npc Niemann-Pick Disease, Chronic Neuronopathic Form Niemann-Pick Disease Without Sphingomyelinase Deficiency Niemann-Pick Disease Type C Niemann-Pick Disease Type D Niemann-Pick C1 Disease Niemann-Pick Disease C1 Niemann-Pick Disease Chronic Neuronopathic Form Niemann-Pick Disease Nova Scotian Type Niemann-Pick Disease Subacute Juvenile Form Niemann-Pick Disease Type Ii Niemann-Picks Disease Type C
Familial Hypercholesterolemia	Hyperlipoproteinemia Type Iia Familial Hyperbetalipoproteinaemia Familial Hypercholesteremia Fredrickson Type Iia Hyperlipoproteinemia Fredrickson Type Iia Lipidaemia Hyperbetalipoproteinemia Type Ii Hyperlipidemia Familial Hypercholesterolæmia Familial Hypercholesterolaemia Fh Hypercholesterolemia Familial Hyperlipoproteinemia Type Ii Hypercholesterolemia, Familial

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (14)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W020012	Fluoresterol		99.65%	Unkown
HY-18282	AZ876	Agonist	99.77%	Unkown
HY-123148	IMB-808	Agonist	99.84%	Unkown
HY-NP203	High density lipoprotein (human)	Activator	98.00%	Unkown
HY-W674245	10-Hydroxyhexadecanoic acid		99.53%	Unkown
HY-RS17499	Abcg1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS00076	ABCG1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-115780	E17110	Agonist	/	Unkown
HY-121671	TBTC	Activator	97.22%	Unkown
HY-179535	Axl-IN-21	Inhibitor	/	Unkown
HY-181509	TNF-α/IL-1β/IL-6-IN-1		/	Unkown
HY-186045	SKLB06489		/	Unkown
HY-184337	Dihydroparadol		/	Unkown
HY-RS23956	Abcg1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ABCG1	VGNC	VGNC:25483
Rattus norvegicus	ABCG1	RGD	RGD:620294
Felis catus	ABCG1	VGNC	VGNC:68320
Macaca mulatta	ABCG1	VGNC	VGNC:69584
Canis familiaris	ABCG1	VGNC	VGNC:37452
Mus musculus	ABCG1	MGD	MGI:107704
Others	ABCG1	NCBI