ABCD subfamily of peroxisomal ABC transporters | Transporters

ABCD subfamily of peroxisomal ABC transporters 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).

GtoImmuPdb view: OFF

Overview

Show »« Hide

This family of 'half-transporters' act as homo- or heterodimers to transport various metabolites across the peroxisomal membrane, whcih include: very long-chain fatty acid-CoA esters, pristanic acid, di- and trihydroxycholestanoic acid, dicarboxylic acids and tetracosahexaenoic acid [3].

Transporters

ALDP (ABCD1) C Show summary »« Hide summary

Target Id	788
Systematic nomenclature	ABCD1
Common abbreviation	ALDP
Previous and unofficial names	Adrenoleukodystrophy protein \| ALD \| ALDP \| AMN \| ATP-binding cassette, sub-family D (ALD), member 1 \| Aldgh \| ATP-binding cassette, subfamily D (ALD), member 1
Genes	ABCD1 (Hs), Abcd1 (Mm), Abcd1 (Rn)
Ensembl ID	ENSG00000101986 (Hs), ENSMUSG00000031378 (Mm), ENSRNOG00000056524 (Rn)
UniProtKB AC	P33897 (Hs), P48410 (Mm)
Comment	Transports coenzyme A esters of very long chain fatty acids [4-5]; loss-of-function mutations in ABCD1 (mutation registry held by the Adrenoleukodystrophy Database; www.x-ald.nl) are associated with adrenoleukodystrophy (OMIM: 300100).

ALDR (ABCD2) C Show summary »« Hide summary

Target Id	789
Systematic nomenclature	ABCD2
Common abbreviation	ALDR
Previous and unofficial names	ALDL1 \| ALDR \| ALDRP \| adrenoleukodystrophy-related protein \| ATP-binding cassette, sub-family D (ALD), member 2 \| ABC39 \| ATP-binding cassette, subfamily D (ALD), member 2
Genes	ABCD2 (Hs), Abcd2 (Mm), Abcd2 (Rn)
Ensembl ID	ENSG00000173208 (Hs), ENSMUSG00000055782 (Mm), ENSRNOG00000015538 (Rn)
UniProtKB AC	Q9UBJ2 (Hs), Q61285 (Mm), Q9QY44 (Rn)
Comment	In vitro experiments indicate that ABCD2 has overlapping substrate specificity with ABCD1 towards saturated and monounsaturated very long-chain fatty acids, albeit at much lower specificity. ABCD2 has affinity for the polyunsaturated fatty acids C22:6-CoA and C24:6-CoA. However, in vivo proof for its true function is still lacking. No disease has yet been linked to a deficiency of ABCD2.

PMP70 (ABCD3) C Show summary »« Hide summary

Target Id	790
Systematic nomenclature	ABCD3
Common abbreviation	PMP70
Previous and unofficial names	70 kDa peroxisomal membrane protein \| PXMP1 \| ZWS2 \| ATP-binding cassette, sub-family D (ALD), member 3 \| PMP70, 70-kDa peroxisomal membrane protein \| Peroxisomal membrane protein 1 \| ATP-binding cassette, subfamily D (ALD), member 3
Genes	ABCD3 (Hs), Abcd3 (Mm), Abcd3 (Rn)
Ensembl ID	ENSG00000117528 (Hs), ENSMUSG00000028127 (Mm), ENSRNOG00000011929 (Rn)
UniProtKB AC	P28288 (Hs), P55096 (Mm), P16970 (Rn)
Comment	Transports branched-chain fatty acids and C27 bile acids DHC-CoA and THC-CoA [2].

Comments

Show »« Hide

References

Show »« Hide

1. Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M et al.. (2012) Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat. Genet., 44 (10): 1152-5. [PMID:22922874]

2. Ferdinandusse S, Jimenez-Sanchez G, Koster J, Denis S, Van Roermund CW, Silva-Zolezzi I, Moser AB, Visser WF, Gulluoglu M, Durmaz O et al.. (2015) A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3. Hum. Mol. Genet., 24 (2): 361-70. [PMID:25168382]

3. Kemp S, Theodoulou FL, Wanders RJ. (2011) Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance. Br. J. Pharmacol., 164 (7): 1753-66. [PMID:21488864]

4. van Roermund CW, Visser WF, Ijlst L, van Cruchten A, Boek M, Kulik W, Waterham HR, Wanders RJ. (2008) The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters. FASEB J., 22 (12): 4201-8. [PMID:18757502]

5. van Roermund CW, Visser WF, Ijlst L, Waterham HR, Wanders RJ. (2011) Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidation. Biochim. Biophys. Acta, 1811 (3): 148-52. [PMID:21145416]

How to cite this family page

Database page citation:

ABCD subfamily of peroxisomal ABC transporters. Accessed on 12/07/2017. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/FamilyDisplayForward?familyId=154.

Concise Guide to PHARMACOLOGY citation:

Alexander SPH, Kelly E, Marrion N, Peters JA, Benson HE, Faccenda E, Pawson AJ, Sharman JL, Southan C, Davies JA and CGTP Collaborators (2015) The Concise Guide to PHARMACOLOGY 2015/16: Transporters. Br J Pharmacol. 172: 6110-6202.