Identity
HGNC
LOCATION
9q31.1
LOCUSID
ALIAS
ABC-1,ABC1,CERP,HDLCQTL13,HDLDT1,HPALP1,TGD
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 19
MIM: 600046
HGNC: 29
Ensembl: ENSG00000165029
Variants:
dbSNP: 19
ClinVar: 19
TCGA: ENSG00000165029
COSMIC: ABCA1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000165029 | ENST00000374733 | B1AMI1 |
| ENSG00000165029 | ENST00000374736 | O95477 |
| ENSG00000165029 | ENST00000423487 | B1AMI2 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA443797 | Coronary Disease | Disease | ClinicalAnnotation | associated | PD | 19673941 | |
| PA444528 | Hyperlipidemias | Disease | ClinicalAnnotation | associated | PD | 20031551 | |
| PA446120 | Hypertriglyceridemia | Disease | ClinicalAnnotation | associated | PD | ||
| PA448500 | atorvastatin | Chemical | ClinicalAnnotation | associated | PD | 20031551 | |
| PA449594 | fenofibrate | Chemical | ClinicalAnnotation | associated | PD | ||
| PA451089 | pravastatin | Chemical | ClinicalAnnotation | associated | PD | 19673941, 20031551 | |
| PA451363 | simvastatin | Chemical | ClinicalAnnotation | associated | PD | 20031551 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37932654 | 2024 | Trimethylamine N-oxide promotes oxidative stress and lipid accumulation in macrophage foam cells via the Nrf2/ABCA1 pathway. | 4 |
| 38052254 | 2024 | Functional characterization of missense variants affecting the extracellular domains of ABCA1 using a fluorescence-based assay. | 0 |
| 38481816 | 2024 | ALKBH5 facilitates the progression of skin cutaneous melanoma via mediating ABCA1 demethylation and modulating autophagy in an m(6)A-dependent manner. | 0 |
| 38734775 | 2024 | Inflammatory corpuscle AIM2 facilitates macrophage foam cell formation by inhibiting cholesterol efflux protein ABCA1. | 0 |
| 38740636 | 2024 | Decreased mRNA expression of NR1H3 and ABCA1 in pulmonary tuberculosis patients from population of Punjab, India. | 0 |
| 38901534 | 2024 | The ABCA1 gene polymorphisms rs1800977 and rs2230806 are differentially associated with the risk for myocardial infarction in Slovenian subjects with type 2 diabetes mellitus. | 0 |
| 38928502 | 2024 | Identification and Molecular Simulation of Genetic Variants in ABCA1 Gene Associated with Susceptibility to Dyslipidemia in Type 2 Diabetes. | 0 |
| 37932654 | 2024 | Trimethylamine N-oxide promotes oxidative stress and lipid accumulation in macrophage foam cells via the Nrf2/ABCA1 pathway. | 4 |
| 38052254 | 2024 | Functional characterization of missense variants affecting the extracellular domains of ABCA1 using a fluorescence-based assay. | 0 |
| 38481816 | 2024 | ALKBH5 facilitates the progression of skin cutaneous melanoma via mediating ABCA1 demethylation and modulating autophagy in an m(6)A-dependent manner. | 0 |
| 38734775 | 2024 | Inflammatory corpuscle AIM2 facilitates macrophage foam cell formation by inhibiting cholesterol efflux protein ABCA1. | 0 |
| 38740636 | 2024 | Decreased mRNA expression of NR1H3 and ABCA1 in pulmonary tuberculosis patients from population of Punjab, India. | 0 |
| 38901534 | 2024 | The ABCA1 gene polymorphisms rs1800977 and rs2230806 are differentially associated with the risk for myocardial infarction in Slovenian subjects with type 2 diabetes mellitus. | 0 |
| 38928502 | 2024 | Identification and Molecular Simulation of Genetic Variants in ABCA1 Gene Associated with Susceptibility to Dyslipidemia in Type 2 Diabetes. | 0 |
| 36251137 | 2023 | Insulin Downregulates the Expression of ATP-binding Cassette Transporter A-I in Human Hepatoma Cell Line HepG2 in a FOXO1 and LXR Dependent Manner. | 1 |
Citation
Dessen P
ABCA1 (ATP binding cassette subfamily A member 1)
Atlas Genet Cytogenet Oncol Haematol. 2008-10-01
Online version: http://atlasgeneticsoncology.org/gene/50442/abca1
