Gene:
ABCA1
ATP-binding cassette, sub-family A (ABC1), member 1

PharmGKB contains no prescribing info for this . Contact us to report known genotype-based dosing guidelines, or if you are interested in developing guidelines.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

? = Mouse-over for quick help

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

List of all variant annotations for ABCA1

Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
rs12003906 NC_000009.11:g.107645477G>T, NC_000009.12:g.104883196G>T, NG_007981.1:g.49960C>A, NM_005502.3:c.303-39C>A, XM_005251773.1:c.303-39C>A, XM_005251774.1:c.303-39C>A, XM_005251775.1:c.240-39C>A, XM_005251776.1:c.123-39C>A, XM_005251777.1:c.303-39C>A, XM_005251778.1:c.303-39C>A, XM_005251780.1:c.303-39C>A, XM_011518339.1:c.378-39C>A, XM_011518340.1:c.378-39C>A, XM_011518341.1:c.378-39C>A, XM_011518342.1:c.-61-39C>A, XM_011518343.1:c.378-39C>A, XM_011518344.1:c.378-39C>A, rs58402594
G > C
G > T
SNP
rs2230806 NC_000009.11:g.107620867C>T, NC_000009.12:g.104858586C>T, NG_007981.1:g.74570G>A, NM_005502.3:c.656G>A, NP_005493.2:p.Arg219Lys, XM_005251773.1:c.656G>A, XM_005251774.1:c.656G>A, XM_005251775.1:c.593G>A, XM_005251776.1:c.476G>A, XM_005251777.1:c.656G>A, XM_005251778.1:c.656G>A, XM_005251780.1:c.656G>A, XM_011518339.1:c.731G>A, XM_011518340.1:c.731G>A, XM_011518341.1:c.731G>A, XM_011518342.1:c.293G>A, XM_011518343.1:c.731G>A, XM_011518344.1:c.731G>A, XP_005251830.1:p.Arg219Lys, XP_005251831.1:p.Arg219Lys, XP_005251832.1:p.Arg198Lys, XP_005251833.1:p.Arg159Lys, XP_005251834.1:p.Arg219Lys, XP_005251835.1:p.Arg219Lys, XP_005251837.1:p.Arg219Lys, XP_011516641.1:p.Arg244Lys, XP_011516642.1:p.Arg244Lys, XP_011516643.1:p.Arg244Lys, XP_011516644.1:p.Arg98Lys, XP_011516645.1:p.Arg244Lys, XP_011516646.1:p.Arg244Lys, rs2234884, rs2853572, rs52801000, rs61696010
C > T
SNP
R219K
rs2230808 NC_000009.11:g.107562804T>C, NC_000009.12:g.104800523T>C, NG_007981.1:g.132633A>G, NM_005502.3:c.4760A>G, NP_005493.2:p.Lys1587Arg, XM_005251773.1:c.4766A>G, XM_005251774.1:c.4766A>G, XM_005251775.1:c.4703A>G, XM_005251776.1:c.4586A>G, XM_005251777.1:c.4766A>G, XM_005251778.1:c.4766A>G, XM_005251779.1:c.3944A>G, XM_005251780.1:c.4766A>G, XM_011518339.1:c.4841A>G, XM_011518340.1:c.4841A>G, XM_011518341.1:c.4835A>G, XM_011518342.1:c.4403A>G, XM_011518343.1:c.4841A>G, XP_005251830.1:p.Lys1589Arg, XP_005251831.1:p.Lys1589Arg, XP_005251832.1:p.Lys1568Arg, XP_005251833.1:p.Lys1529Arg, XP_005251834.1:p.Lys1589Arg, XP_005251835.1:p.Lys1589Arg, XP_005251836.1:p.Lys1315Arg, XP_005251837.1:p.Lys1589Arg, XP_011516641.1:p.Lys1614Arg, XP_011516642.1:p.Lys1614Arg, XP_011516643.1:p.Lys1612Arg, XP_011516644.1:p.Lys1468Arg, XP_011516645.1:p.Lys1614Arg, rs2234886, rs57688810
T > C
SNP
K1587R
rs2472507 NC_000009.11:g.107687193A>C, NC_000009.12:g.104924912A>C, NG_007981.1:g.8244T>G, NM_005502.3:c.-93+3023T>G, XM_005251773.1:c.-93+3023T>G, XM_005251776.1:c.-115+3023T>G, XM_005251777.1:c.-93+3023T>G, XM_005251778.1:c.-93+3023T>G, XM_005251780.1:c.-93+3023T>G, XM_011518339.1:c.-93+3023T>G, XM_011518341.1:c.-93+3023T>G, XM_011518342.1:c.-156+3023T>G, XM_011518343.1:c.-93+3023T>G, XM_011518344.1:c.-93+3023T>G, rs52795021
A > C
SNP
rs2515629 NC_000009.11:g.107594364A>G, NC_000009.12:g.104832083A>G, NG_007981.1:g.101073T>C, NM_005502.3:c.1510-256T>C, XM_005251773.1:c.1510-256T>C, XM_005251774.1:c.1510-256T>C, XM_005251775.1:c.1447-256T>C, XM_005251776.1:c.1330-256T>C, XM_005251777.1:c.1510-256T>C, XM_005251778.1:c.1510-256T>C, XM_005251779.1:c.688-256T>C, XM_005251780.1:c.1510-256T>C, XM_011518339.1:c.1585-256T>C, XM_011518340.1:c.1585-256T>C, XM_011518341.1:c.1585-256T>C, XM_011518342.1:c.1147-256T>C, XM_011518343.1:c.1585-256T>C, XM_011518344.1:c.1585-256T>C, rs3739744, rs386568589, rs59453645
A > G
SNP
rs3887137 NC_000009.11:g.107698612C>T, NC_000009.12:g.104936331C>T, XR_930204.1:n.952-2421C>T, rs57670930
C > T
SNP
rs4149297 NC_000009.11:g.107604104A>G, NC_000009.12:g.104841823A>G, NG_007981.1:g.91333T>C, NM_005502.3:c.814-1304T>C, XM_005251773.1:c.814-1304T>C, XM_005251774.1:c.814-1304T>C, XM_005251775.1:c.751-1304T>C, XM_005251776.1:c.634-1304T>C, XM_005251777.1:c.814-1304T>C, XM_005251778.1:c.814-1304T>C, XM_005251779.1:c.-9-1304T>C, XM_005251780.1:c.814-1304T>C, XM_011518339.1:c.889-1304T>C, XM_011518340.1:c.889-1304T>C, XM_011518341.1:c.889-1304T>C, XM_011518342.1:c.451-1304T>C, XM_011518343.1:c.889-1304T>C, XM_011518344.1:c.889-1304T>C, rs58756804
A > G
SNP
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Alternate Names:  ABC1; HDLDT1; Tangier disease
Alternate Symbols:  TGD
PharmGKB Accession Id: PA24373

Details

Cytogenetic Location: chr9 : q31.1 - q31.1
GP mRNA Boundary: chr9 : 107543283 - 107690527
GP Gene Boundary: chr9 : 107540283 - 107700527
Strand: minus

Visualization

UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.

View on UCSC Browser
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.
No related genes are available

Curated Information ?

Curated Information ?

Publications related to ABCA1: 21

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genetic Variation among 82 Pharmacogenes: the PGRN-Seq data from the eMERGE Network. Clinical pharmacology and therapeutics. 2016. Bush William S, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Proteomic analysis of HDL from inbred mice strains implicates APOE associated with HDL in reduced cholesterol efflux capacity via the ABCA1 pathway. Journal of lipid research. 2015. Pamir Nathalie, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Genetic variants in SLC22A17 and SLC22A7 are associated with anthracycline-induced cardiotoxicity in children. Pharmacogenomics. 2015. Visscher Henk, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Association of ATP-binding cassette transporter variants with the risk of Alzheimer's disease. Pharmacogenomics. 2013. Cascorbi Ingolf, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The expression profile of ATP-binding cassette transporter genes in breast carcinoma. Pharmacogenomics. 2013. Hlaváč Viktor, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Discovery of regulatory elements in human ATP-binding cassette transporters through expression quantitative trait mapping. The pharmacogenomics journal. 2011. Matsson P, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Single nucleotide polymorphisms in genes that are associated with a modified response to statin therapy: the Rotterdam Study. The pharmacogenomics journal. 2011. de Keyser C E, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Effects of lipid-lowering drugs on reverse cholesterol transport gene expressions in peripheral blood mononuclear and HepG2 cells. Pharmacogenomics. 2010. Genvigir Fabiana Dalla Vecchia, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Effect of fenofibrate therapy and ABCA1 polymorphisms on high-density lipoprotein subclasses in the Genetics of Lipid Lowering Drugs and Diet Network. Molecular genetics and metabolism. 2010. Tsai Michael Y, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A gene score of nine LDL and HDL regulating genes is associated with fluvastatin-induced cholesterol changes in women. Journal of lipid research. 2010. Hamrefors Viktor, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABC transporters in cancer: more than just drug efflux pumps. Nature reviews. Cancer. 2010. Fletcher Jamie I, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCA1 expression and statins: inhibitory effect in peripheral blood mononuclear cells. Pharmacogenomics. 2009. Genvigir Fabiana D V, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Effect of R219K polymorphism of the ABCA1 gene on the lipid-lowering effect of pravastatin in Chinese patients with coronary heart disease. Clinical and experimental pharmacology & physiology. 2009. Li Jia, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Association of a polymorphism of the apolipoprotein E gene with chronic kidney disease in Japanese individuals with metabolic syndrome. Genomics. 2009. Yoshida Tetsuro, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genetic variation in the proximal promoter of ABC and SLC superfamilies: liver and kidney specific expression and promoter activity predict variation. PloS one. 2009. Hesselson Stephanie E, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Pharmacogenetic predictors of statin-mediated low-density lipoprotein cholesterol reduction and dose response. Circulation. Cardiovascular genetics. 2008. Voora Deepak, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Effects of ABCA1 variants on rosiglitazone monotherapy in newly diagnosed type 2 diabetes patients. Acta pharmacologica Sinica. 2008. Wang Jie, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Fenofibrate reduces intestinal cholesterol absorption via PPARalpha-dependent modulation of NPC1L1 expression in mouse. Journal of lipid research. 2007. Valasek Mark A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Contribution of 20 single nucleotide polymorphisms of 13 genes to dyslipidemia associated with antiretroviral therapy. Pharmacogenetics and genomics. 2007. Arnedo Mireia, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The consensus coding sequences of human breast and colorectal cancers. Science (New York, N.Y.). 2006. Sjöblom Tobias, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Novel polymorphisms in promoter region of atp binding cassette transporter gene and plasma lipids, severity, progression, and regression of coronary atherosclerosis and response to therapy. Circulation research. 2001. Lutucuta S, et al. PubMed

LinkOuts

NCBI Gene:
19
OMIM:
143890
205400
600046
604091
UCSC Genome Browser:
NM_005502
RefSeq RNA:
NM_005502
RefSeq Protein:
NP_005493
RefSeq DNA:
NG_007981
NT_008470
UniProtKB:
ABCA1_HUMAN (O95477)
Ensembl:
ENSG00000165029
GenAtlas:
ABCA1
GeneCard:
ABCA1
MutDB:
ABCA1
ALFRED:
LO018579E
HuGE:
ABCA1
Comparative Toxicogenomics Database:
19
ModBase:
Q9UN09
HumanCyc Gene:
HS09173
HGNC:
29

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