ABCA subfamily | Transporters | IUPHAR/BPS Guide to PHARMACOLOGY

ABCA subfamily C

Unless otherwise stated all data on this page refer to the human proteins. Gene information is provided for human (Hs), mouse (Mm) and rat (Rn).

Overview

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To date, 12 members of the human ABCA subfamily are identified. They share a high degree of sequence conservation and have been mostly related with lipid trafficking in a wide range of body locations. Mutations in some of these genes have been described to cause severe hereditary diseases related with lipid transport, such as fatal surfactant deficiency or harlequin ichthyosis. In addition, most of them are hypothesized to participate in the subcellular sequestration of drugs, thereby being responsible for the resistance of several carcinoma cell lines against drug treatment [1-2].

Transporters

761

ABC1, CERP (ABCA1) C Show summary »« Hide summary More detailed page go icon to follow link

Target Id

756

Systematic nomenclature

ABCA1

Common abbreviation

ABC1, CERP

Previous and unofficial names

Genes

ABCA1 (Hs), Abca1 (Mm), Abca1 (Rn)

Ensembl ID

ENSG00000165029 (Hs), ENSMUSG00000015243 (Mm), ENSRNOG00000018126 (Rn)

UniProtKB AC

O95477 (Hs), P41233 (Mm)

Selective ligands

bihelical apoA-I mimetic peptide 5A (Binding) (The 5A sequence was able to solubilize phospholipid vesicles and stimulated cholesterol and phospholipid efflux by the ABCA1 transporter with high specificity but no specific binding data was reported) [9]

Selective inhibitors

probucol [4,11]

ABC2 (ABCA2) Show summary »« Hide summary

Target Id	757
Systematic nomenclature	ABCA2
Common abbreviation	ABC2
Previous and unofficial names	ABC2 \| ATP-binding cassette 2 \| ATP-binding cassette transporter 2 \| ATP-binding cassette, sub-family A (ABC1), member 2 \| ATP-binding cassette, subfamily A (ABC1), member 2 \| ATP-binding cassette
Genes	ABCA2 (Hs), Abca2 (Mm), Abca2 (Rn)
Ensembl ID	ENSG00000107331 (Hs), ENSMUSG00000026944 (Mm), ENSRNOG00000014268 (Rn)
UniProtKB AC	Q9BZC7 (Hs), P41234 (Mm), Q9ESR9 (Rn)

ABC3, ABCC (ABCA3) C Show summary »« Hide summary

Target Id	758
Systematic nomenclature	ABCA3
Common abbreviation	ABC3, ABCC
Previous and unofficial names	ABC3 \| ABC-C \| ATP-binding cassette, sub-family A (ABC1), member 3 \| ATP-binding cassette, subfamily A (ABC1), member 3 \| ATP-binding cassette
Genes	ABCA3 (Hs), Abca3 (Mm), Abca3 (Rn)
Ensembl ID	ENSG00000167972 (Hs), ENSMUSG00000024130 (Mm), ENSRNOG00000050057 (Rn)
UniProtKB AC	Q99758 (Hs), Q8R420 (Mm)
Comment	Loss-of-function mutations are associated with pulmonary surfactant deficiency

ABCR (ABCA4) C Show summary »« Hide summary

Target Id	759
Systematic nomenclature	ABCA4
Common abbreviation	ABCR
Previous and unofficial names	Retinal-specific ATP-binding cassette transporter \| RIM ABC transporter \| RmP \| Stargardt disease protein \| ABCR \| ARMD2 \| FFM \| RP19 \| STGD \| ATP-binding cassette transporter, retinal-specific \| ATP-binding cassette, sub-family A (ABC1), member 4 \| Abc10 \| Rim protein \| STGD1 \| ATP-binding cassette, subfamily A (ABC1), member 4 \| ATP-binding cassette
Genes	ABCA4 (Hs), Abca4 (Mm), Abca4 (Rn)
Ensembl ID	ENSG00000198691 (Hs), ENSMUSG00000028125 (Mm), ENSRNOG00000012892 (Rn)
UniProtKB AC	P78363 (Hs), O35600 (Mm)
Comment	Retinal-specific transporter of N-retinylPE; loss-of-function mutations are associated with childhood-onset Stargardt disease, a juvenile onset macular degenerative disease. The earlier onset disease is often associated with the more severe and deleterious ABCA4 variants [6]. ABCA4 facilitates the clearance of all-trans-retinal from photoreceptor disc membranes following photoexcitation. ABCA4 can also transport N-11-cis-retinylidene-phosphatidylethanolamine, the Schiff-base adduct of 11-cis-retinal; loss of function mutation cause a buildup of lipofuscin, atrophy of the central retina, and severe progressive loss in vision [8].

ABCA5 C Show summary »« Hide summary

Target Id	760
Systematic nomenclature	ABCA5
Previous and unofficial names	ATP-binding cassette, sub-family A (ABC1), member 5 \| ABC13 \| ATP-binding cassette, subfamily A (ABC1), member 5 \| ATP-binding cassette
Genes	ABCA5 (Hs), Abca5 (Mm), Abca5 (Rn)
Ensembl ID	ENSG00000154265 (Hs), ENSMUSG00000018800 (Mm), ENSRNOG00000004378 (Rn)
UniProtKB AC	Q8WWZ7 (Hs), Q8K448 (Mm), Q8CF82 (Rn)
Comment	ABCA5 is a lysosomal protein whose loss of function compromises integrity of lysosomes and leads to intra-endolysosomal accumulation of cholesterol. It has recently been associated with Congenital Generalized Hypertrichosis Terminalis (CGHT), a hair overgrowth syndrome, in a patient with a mutation in ABCA5 that significantly decreased its expression [3].

ABCA6 C Show summary »« Hide summary

Target Id	761
Systematic nomenclature	ABCA6
Previous and unofficial names	ATP-binding cassette, subfamily A (ABC1), member 6 \| ATP-binding cassette
Genes	ABCA6 (Hs), Abca6 (Mm), Abca6 (Rn)
Ensembl ID	ENSG00000154262 (Hs), ENSMUSG00000044749 (Mm), ENSRNOG00000046890 (Rn)
UniProtKB AC	Q8N139 (Hs), Q8K441 (Mm)
Comment	A recent genome wide association study identified an ABCA6 variant associated with cholesterol levels [10].

ABCA7 C Show summary »« Hide summary

Target Id	762
Systematic nomenclature	ABCA7
Previous and unofficial names	ABCX \| ATP-binding cassette, sub-family A (ABC1), member 7 \| Abc51 \| ATP-binding cassette, subfamily A (ABC1), member 7 \| ATP-binding cassette
Genes	ABCA7 (Hs), Abca7 (Mm), Abca7 (Rn)
Ensembl ID	ENSG00000064687 (Hs), ENSMUSG00000035722 (Mm), ENSRNOG00000012939 (Rn)
UniProtKB AC	Q8IZY2 (Hs), Q91V24 (Mm), Q7TNJ2 (Rn)
Comment	Genome wide association studies identify ABCA7 variants as associated with Alzheimer's Disease [7].

ABCA8 Show summary »« Hide summary

Target Id	763
Systematic nomenclature	ABCA8
Previous and unofficial names	Abca8b \| ATP-binding cassette, subfamily A (ABC1), member 8 \| ATP-binding cassette, sub-family A (ABC1), member 8b \| Abca8 \| ATP-binding cassette
Genes	ABCA8 (Hs), Abca8b (Mm), Abca8 (Rn)
Ensembl ID	ENSG00000141338 (Hs), ENSMUSG00000020620 (Mm), ENSRNOG00000004040 (Rn)
UniProtKB AC	O94911 (Hs), Q8K440 (Mm)

ABCA9 Show summary »« Hide summary

Target Id	764
Systematic nomenclature	ABCA9
Previous and unofficial names	ATP-binding cassette sub-family A member 9 \| ATP-binding cassette, subfamily A (ABC1), member 9 \| ATP-binding cassette
Genes	ABCA9 (Hs), Abca9 (Mm), Abca9 (Rn)
Ensembl ID	ENSG00000154258 (Hs), ENSMUSG00000041797 (Mm), ENSRNOG00000059326 (Rn)
UniProtKB AC	Q8IUA7 (Hs), Q8K449 (Mm)

ABCA10 Show summary »« Hide summary

Target Id	765
Systematic nomenclature	ABCA10
Previous and unofficial names	ATP-binding cassette, sub-family A (ABC1), member 10
Genes	ABCA10 (Hs)
Ensembl ID	ENSG00000154263 (Hs)
UniProtKB AC	Q8WWZ4 (Hs)

ABCA12 C Show summary »« Hide summary More detailed page go icon to follow link

Target Id	766
Systematic nomenclature	ABCA12
Previous and unofficial names	ICR2B \| LI2 \| ichthyosis congenita II, lamellar ichthyosis B \| ATP-binding cassette sub-family A member 12 \| ATP-binding cassette, subfamily A (ABC1), member 12 \| ATP-binding cassette
Genes	ABCA12 (Hs), Abca12 (Mm), Abca12 (Rn)
Ensembl ID	ENSG00000144452 (Hs), ENSMUSG00000050296 (Mm), ENSRNOG00000015248 (Rn)
UniProtKB AC	Q86UK0 (Hs)
Comment	Reported to play a role in skin ceramide formation [12]. A recent study shows that ABCA12 expression also impacts cholesterol efflux from macrophages. ABCA12 is postulated to associate with ABCA1 and LXR beta, and stabilize expression of ABCA1. ABCA12 deficiency causes decreased expression of Abca1, Abcg1 and Nr1h2 [5].

ABCA13 Show summary »« Hide summary

Target Id	767
Systematic nomenclature	ABCA13
Previous and unofficial names	ATP-binding cassette, sub-family A (ABC1), member 13 \| ATP-binding cassette, subfamily A (ABC1), member 13 \| ATP-binding cassette
Genes	ABCA13 (Hs), Abca13 (Mm), Abca13 (Rn)
Ensembl ID	ENSG00000179869 (Hs), ENSMUSG00000004668 (Mm), ENSRNOG00000025645 (Rn)
UniProtKB AC	Q86UQ4 (Hs), Q5SSE9 (Mm)

Comments

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References

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1. Albrecht C, Viturro E. (2007) The ABCA subfamily--gene and protein structures, functions and associated hereditary diseases. Pflugers Arch, 453 (5): 581-9. [PMID:16586097]

2. Alexander SPH, Kelly E, Mathie A, Peters JA, Veale EL, Armstrong JF, Faccenda E, Harding SD, Pawson AJ, Sharman JL et al.. (2019) THE CONCISE GUIDE TO PHARMACOLOGY 2019/20: Transporters. Br J Pharmacol, 176 Suppl 1: S397-S493. [PMID:31710713]

3. DeStefano GM, Kurban M, Anyane-Yeboa K, Dall'Armi C, Di Paolo G, Feenstra H, Silverberg N, Rohena L, López-Cepeda LD, Jobanputra V et al.. (2014) Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth. PLoS Genet, 10 (5): e1004333. [PMID:24831815]

4. Favari E, Zanotti I, Zimetti F, Ronda N, Bernini F, Rothblat GH. (2004) Probucol inhibits ABCA1-mediated cellular lipid efflux. Arterioscler Thromb Vasc Biol, 24 (12): 2345-50. [PMID:15514211]

5. Fu Y, Mukhamedova N, Ip S, D'Souza W, Henley KJ, DiTommaso T, Kesani R, Ditiatkovski M, Jones L, Lane RM et al.. (2013) ABCA12 regulates ABCA1-dependent cholesterol efflux from macrophages and the development of atherosclerosis. Cell Metab, 18 (2): 225-38. [PMID:23931754]

6. Fujinami K, Zernant J, Chana RK, Wright GA, Tsunoda K, Ozawa Y, Tsubota K, Robson AG, Holder GE, Allikmets R et al.. (2015) Clinical and molecular characteristics of childhood-onset Stargardt disease. Ophthalmology, 122 (2): 326-34. [PMID:25312043]

7. Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM, Abraham R, Hamshere ML, Pahwa JS, Moskvina V et al.. (2011) Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet, 43 (5): 429-35. [PMID:21460840]

8. Quazi F, Molday RS. (2014) ATP-binding cassette transporter ABCA4 and chemical isomerization protect photoreceptor cells from the toxic accumulation of excess 11-cis-retinal. Proc Natl Acad Sci USA, 111 (13): 5024-9. [PMID:24707049]

9. Sethi AA, Stonik JA, Thomas F, Demosky SJ, Amar M, Neufeld E, Brewer HB, Davidson WS, D'Souza W, Sviridov D et al.. (2008) Asymmetry in the lipid affinity of bihelical amphipathic peptides. A structural determinant for the specificity of ABCA1-dependent cholesterol efflux by peptides. J Biol Chem, 283 (47): 32273-82. [PMID:18805791]

10. van Leeuwen EM, Karssen LC, Deelen J, Isaacs A, Medina-Gomez C, Mbarek H, Kanterakis A, Trompet S, Postmus I, Verweij N et al.. (2015) Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels. Nat Commun, 6: 6065. [PMID:25751400]

11. Wu CA, Tsujita M, Hayashi M, Yokoyama S. (2004) Probucol inactivates ABCA1 in the plasma membrane with respect to its mediation of apolipoprotein binding and high density lipoprotein assembly and to its proteolytic degradation. J Biol Chem, 279 (29): 30168-74. [PMID:15140889]

12. Zuo Y, Zhuang DZ, Han R, Isaac G, Tobin JJ, McKee M, Welti R, Brissette JL, Fitzgerald ML, Freeman MW. (2008) ABCA12 maintains the epidermal lipid permeability barrier by facilitating formation of ceramide linoleic esters. J Biol Chem, 283 (52): 36624-35. [PMID:18957418]

NC-IUPHAR subcommittee and family contributors

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Database page citation (select format):

Concise Guide to PHARMACOLOGY citation:

Alexander SPH, Fabbro D, Kelly E, Mathie AA, Peters JA, Veale EL, Armstrong JF, Faccenda E, Harding SD, Davies JA et al. (2023) The Concise Guide to PHARMACOLOGY 2023/24: Transporters. Br J Pharmacol. 180 Suppl 2:S374-469.

ABCA subfamily C

Overview

Transporters

Comments

References

NC-IUPHAR subcommittee and family contributors

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How to cite this family page