1. Gene
  2. ABCG1 - ATP binding cassette subfamily G member 1 Gene

ABCG1 - ATP binding cassette subfamily G member 1 Gene

中文名称:ATP 结合盒亚家族 G 成员 1

种属: Homo sapiens

同用名: ABC8; WHITE1

基因 ID: 9619 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质是 ATP 结合盒 (ABC) 转运蛋白超家族的成员。 ABC 蛋白可跨细胞外膜和细胞内膜转运各种分子。 ABC 基因分为七个不同的亚家族 (ABC1、MDR/TAP、MRP、ALD、OABP、GCN20、White) 。这种蛋白质是 White 亚家族的成员。它参与巨噬细胞胆固醇和磷脂的运输,并可能调节其他细胞类型的细胞脂质稳态。已经确定了六种替代剪接变体。[RefSeq 提供,2008 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ABC-type sterol transporter activity IDA
IDA: 通过直接分析推断
17408620 GOA
enables ADP binding IDA
IDA: 通过直接分析推断
16702602 GOA
enables ATP binding IDA
IDA: 通过直接分析推断
16702602 GOA
enables cholesterol transfer activity IDA
IDA: 通过直接分析推断
15994327 GOA
enables floppase activity IDA
IDA: 通过直接分析推断
16702602 GOA
enables phosphatidylcholine floppase activity IDA
IDA: 通过直接分析推断
16702602 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16870176 GOA
enables protein heterodimerization activity IPI
IPI: 通过物理相互作用推断
16870176 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
16702602 GOA
enables toxin transmembrane transporter activity IDA
IDA: 通过直接分析推断
17408620 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in amyloid precursor protein catabolic process IDA
IDA: 通过直接分析推断
17293612 GOA
involved in cholesterol efflux IDA
IDA: 通过直接分析推断
15994327 GOA
involved in cholesterol efflux IMP
IMP: 通过突变表型推断
16702602 GOA
involved in cholesterol homeostasis IDA
IDA: 通过直接分析推断
15994327 GOA
involved in cholesterol homeostasis IEP
IEP: 通过表达模式推断
11500512 GOA
involved in cholesterol metabolic process IDA
IDA: 通过直接分析推断
15994327 GOA
involved in glycoprotein transport IDA
IDA: 通过直接分析推断
17293612 GOA
involved in intracellular cholesterol transport IMP
IMP: 通过突变表型推断
15994327 GOA
involved in phospholipid efflux IMP
IMP: 通过突变表型推断
16702602 GOA
involved in phospholipid homeostasis IMP
IMP: 通过突变表型推断
16702602 GOA
involved in positive regulation of amyloid-beta formation IDA
IDA: 通过直接分析推断
17293612 GOA
involved in positive regulation of protein secretion IDA
IDA: 通过直接分析推断
17293612 GOA
involved in response to lipid IDA
IDA: 通过直接分析推断
16556852 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in external side of plasma membrane IDA
IDA: 通过直接分析推断
16556852 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
22042635 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
16702602 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

ABCG1 蛋白结构

ABC_tran

ABC_tran: ABC transporter (101 - 245)

ABC2_membrane

ABC2_membrane: ABC-2 type transporter (403 - 611)

  • 0
  • 200
  • 400
  • 600
  • 678 a.a.
蛋白主名 其他名称

ATP-binding cassette sub-family G member 1

ABC transporter 8

ABCG1 抗体

目录号 产品名 应用 反应物种
HY-P82096 ABCG1 Antibody (YA1841) WB Human

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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