ABCA1 (ATP binding cassette subfamily A member 1)

2008-10-01  

Identity

HGNC
LOCATION
9q31.1
LOCUSID
ALIAS
ABC-1,ABC1,CERP,HDLCQTL13,HDLDT1,HPALP1,TGD
FUSION GENES

Other Information

Locus ID:

NCBI: 19
MIM: 600046
HGNC: 29
Ensembl: ENSG00000165029

Variants:

dbSNP: 19
ClinVar: 19
TCGA: ENSG00000165029
COSMIC: ABCA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165029ENST00000374733B1AMI1
ENSG00000165029ENST00000374736O95477
ENSG00000165029ENST00000423487B1AMI2

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
ABC transportersKEGGko02010
ABC transportersKEGGhsa02010
Fat digestion and absorptionKEGGko04975
Fat digestion and absorptionKEGGhsa04975
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
HDL-mediated lipid transportREACTOMER-HSA-194223
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)REACTOMER-HSA-400206
PPARA activates gene expressionREACTOMER-HSA-1989781

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443797Coronary DiseaseDiseaseClinicalAnnotationassociatedPD19673941
PA444528HyperlipidemiasDiseaseClinicalAnnotationassociatedPD20031551
PA446120HypertriglyceridemiaDiseaseClinicalAnnotationassociatedPD
PA448500atorvastatinChemicalClinicalAnnotationassociatedPD20031551
PA449594fenofibrateChemicalClinicalAnnotationassociatedPD
PA451089pravastatinChemicalClinicalAnnotationassociatedPD19673941, 20031551
PA451363simvastatinChemicalClinicalAnnotationassociatedPD20031551

References

Pubmed IDYearTitleCitations
152976752004Multiple rare alleles contribute to low plasma levels of HDL cholesterol.405
152976752004Multiple rare alleles contribute to low plasma levels of HDL cholesterol.405
196567762009DNA methylation differences after exposure to prenatal famine are common and timing- and sex-specific.337
183541022008Polymorphisms associated with cholesterol and risk of cardiovascular events.250
203858192010Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.246
207143482010Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits.246
203858262010Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).199
162077132005Lack of ABCA1 considerably decreases brain ApoE level and increases amyloid deposition in APP23 mice.118
197836542009The macrophage cholesterol exporter ABCA1 functions as an anti-inflammatory receptor.102
185232212008Association of loss-of-function mutations in the ABCA1 gene with high-density lipoprotein cholesterol levels and risk of ischemic heart disease.100

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