ABCG1 Gene - ATP Binding Cassette Subfamily G Member 1
A key regulator of cholesterol efflux and lipid homeostasis, implicated in metabolic and cardiovascular diseases.
Gene Information Card
| Symbol | ABCG1 |
|---|---|
| Full Name | ATP Binding Cassette Subfamily G Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 9619 ncbi.nlm.nih.gov/gene/9619 |
| Ensembl ID | ENSG00000160179 |
| UniProt ID | P45844 |
| OMIM ID | 603076 |
| HGNC ID | 73 |
| Aliases | ABC8, White |
Description
ABCG1 encodes a member of the ATP-binding cassette (ABC) transporter family, specifically the G subfamily. It functions as a homodimer to mediate the efflux of cholesterol and phospholipids from cells to high-density lipoprotein (HDL) particles, playing a critical role in lipid homeostasis in macrophages and other tissues. The protein is involved in cellular cholesterol transport, lung surfactant metabolism, and pancreatic beta-cell function. Variants and altered expression of ABCG1 have been linked to metabolic disorders, cardiovascular disease, and type 2 diabetes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atherosclerosis | Reduced ABCG1 expression in macrophages impairs cholesterol efflux, promoting foam cell formation and plaque development. | Mouse models and human expression studies (NCBI Gene, OMIM) |
| Type 2 Diabetes | ABCG1 influences beta-cell cholesterol homeostasis; altered expression affects insulin secretion and glucose tolerance. | Genetic association studies and functional assays (ClinVar, PubMed via NCBI) |
| Lung Disease (COPD) | ABCG1 is critical for pulmonary surfactant lipid export; deficiency leads to lipid accumulation and inflammation in lungs. | Knockout mouse studies (UniProt, OMIM) |
| Hypercholesterolemia | Polymorphisms in ABCG1 are associated with altered plasma lipid levels and cholesterol metabolism. | GWAS and candidate gene studies (ClinVar, NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 22.3 | High |
| Liver | 18.7 | High |
| Spleen | 15.2 | Medium |
| Adipose Tissue | 12.4 | Medium |
| Brain | 8.1 | Low |
| Muscle | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Macrophages | 35.6 | Key role in cholesterol efflux |
| HepG2 (Liver) | 20.1 | Hepatic expression |
| A549 (Lung) | 18.9 | Surfactant metabolism |
| THP-1 (Monocyte) | 25.4 | Differentiation to macrophages |
| HeLa (Cervical) | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs137854495 (p.Arg158Gln) | Missense | 0.01% (ExAC) | Potential loss of function; associated with altered lipid profiles |
| rs2234711 (c.1199A>G) | Intronic | 30% (1000 Genomes) | May affect splicing; linked to type 2 diabetes risk |
| rs1044317 (c.5' UTR) | UTR variant | 15% (1000 Genomes) | May influence gene expression; associated with HDL levels |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in ABCG1 impair cholesterol efflux, leading to lipid accumulation in macrophages and increased atherosclerosis risk.
Gain of Function (GOF)
Gain-of-function mutations are rare and not well characterized; overexpression studies suggest enhanced cholesterol efflux but potential adverse effects on cell proliferation.
Dominant Negative (DN)
Dominant-negative effects have not been clearly demonstrated; however, some missense mutations may interfere with dimerization and reduce overall transporter activity.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • cholesterol efflux |
| • phospholipid efflux | • plasma membrane |
| • lipid homeostasis | • response to lipopolysaccharide |
Pathways
• Cholesterol metabolism
• HDL-mediated lipid transport
• PPAR signaling
• Liver X receptor (LXR) pathway
Protein Summary
The ABCG1 protein is a half-transporter that forms homodimers to function as a full transporter. It localizes to the plasma membrane and endosomal compartments, facilitating the efflux of cholesterol and phospholipids to HDL acceptors. It is highly expressed in macrophages, lung, liver, and spleen. The protein contains an N-terminal nucleotide-binding domain (NBD) and a C-terminal transmembrane domain (TMD). Post-translational modifications include phosphorylation, which regulates its activity. ABCG1 plays a protective role against atherosclerosis and is involved in pancreatic beta-cell function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABCG1 Knockout HEK293 Cell Line | EDJ-KQ3171 | Human | 9619 | Details Get a Quote |
| ABCG1 Knockout A-549 Cell Line | EDJ-KQ24592 | Human | 9619 | Details Get a Quote |
| ABCG1 Knockout HeLa Cell Line | EDJ-KQ24593 | Human | 9619 | Details Get a Quote |
| ABCG1 Knockout HCT 116 Cell Line | EDJ-KQ72151 | Human | 9619 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
