ABCG1 - ATP binding cassette subfamily G member 1 Gene

Homo sapiens

Also known as ABC8; WHITE1

Gene ID: 9619 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-123148	IMB-808	Agonist	99.85%	Unkown
HY-121671	TBTC	Activator	/	Unkown
HY-RS00076	ABCG1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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