| 49 Human ATP-Binding Cassette Transporters |
| Name | ABC1 | MDR | MRP | ALD | OABP | GCN20 | White |
| Subfamily | ABCA | ABCB | ABCC | ABCD | ABCE | ABCF | ABCG |
| Members | 12 | 11 | 13 | 4 | 1 | 3 | 5 (+ 1?) |
I have to apologize, but somehow the
page disappeared from my site.
I found a version back in the web archive but it is not up-to-date, I will do my
best to update it again! Be patient, will keep you informed.
with symbols according to the nomenclature for human ABC-transporter
genes
( with links to M. Deans Book and
"Nice"Swiss-Prot and other updates)
Thanks for support! Suggestions/Comments are welcome!
Hosted by the Nutrition,
Metabolism and Genomics Group, Wageningen University, The
Netherlands
| Name/Symbol | Properties | Links | Phenotype | Access | Animals | Tissue/Regulation | Function/Substrates | |
| 1 |
ABC1 TGD HDLDT1 CERP |
9q22-q31 52 Exons SeqView 6.9 kB 2261 AA |
|
|
NM005502 |
Mouse Rat |
Many
tissues
|
|
| LXRa | ||||||||
| 2 | ABCA2 ABCA2 |
9q34 48 Exons SeqView 8 kB 2436 AA |
|
|
NM001606 |
Mouse Rat |
Brain Kidney Lung Heart |
|
| 3 | ABCA3 ABC-C ABCA3 |
16p13.3 SeqView 6.5 kB 1704 AA |
|
|
NM001089 |
Mouse Rat |
Lung + other tissues |
|
| 4 | ABCR RP19, ABC10 FFM, STGD1 STGD, RIM, RMP |
1p22 50 Exons. SeqView 7.3 kB 2273 AA |
|
|
NM000350 |
Mouse Rat |
Retina, photoreceptor cells |
|
| 5 | ABCA5 ABCA5 |
17q21-q24 6.5 kB 1642 AA |
|
NM018672 |
Mouse Rat |
Muscle Heart Testes upregulated in cultured hepatocytes |
|
|
| 6 | ABCA6 ABCA6 |
17q21 5.3 kB 1617 AA |
|
NM080284 |
Mouse Rat
|
Liver
|
|
|
| 7 | ABCA7 ABCX |
19p13.3 SeqView 6.6 kB 2146
AA |
|
|
NM019112 |
Mouse Rat |
Peripheral leukocytes, Thymus, Spleen, Bone marrow |
|
| 8 | ABCA8 ABCA8 |
17q24 5.7 kB 1581 AA |
|
NM007168 |
Mouse Rat |
Ovary |
|
|
| 9 | ABCA9 ABCA9 |
17q24 6 kB 1624 AA |
|
NM080283 |
Mouse Rat
|
Heart |
|
|
| 10 | ABCA10 ABCA10 |
17q24 6.18 kB 1543 AA |
|
Mouse Rat
|
Muscle Heart also in monocytes and M-CSF differentiated macrophages |
|
||
| 11 | ABCA12 ABCA12 |
2q35 7 kB 2595 AA |
|
|
NM015657 LocusLink Swiss-Prot GeneCard |
Mouse Rat
|
Stomach |
|
| 12 | ABCA13 ABCA13 |
7p11-q11 gene
450 kB |
|
|
NM152701 LocusLink Swiss-Prot GeneCard |
Mouse Rat
|
Major transcript shows highest expression in human trachea, testis, and bone marrow |
|
| Name/Symbol | Properties | Links | Phenotype | Access | Animal | Tissue/Regulation | Function/Substrates | |
| 1 | PGY1 MDR1 P-GP GP170 |
7q21 28 exons
4.5 1280 AA |
|
|
NM000927 |
Mouse Abcb1a Rat Abcb1a Mouse Abcb1b Rat Abcb1b |
Many
tissues (especially those with barrier functions such as liver, BBB,
kidney, intestine, placenta) apical membranes |
|
| 2 | TAP1 PSF1 RING4 ABC17 APT1 D6S114E |
6p21.3 11 exons 2.5 808 AA |
|
Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. |
NM000593 |
Mouse Rat |
Most
cells ER |
|
| 3 | TAP2 PSF2 RING11 D6S217E ABC18 |
6p21.3 11 ex. 2.8 653 |
|
|
NM000544 |
Mouse Rat |
Most
cells ER |
|
| 4 | PGY3 MDR2/3 MDR3 PFIC-3 ABC21 |
7q21 28 exons 4.5 |
|
PFIC-3 ICP |
NM000443 | Mouse Rat |
Hepatocyte
apical membranes
|
|
| PPARa?, FXR? | ||||||||
| 5 |
ABCB5 ABCB5 |
7p14 7.5 |
|
U66692 AC002486 XM291215 |
Mouse Rat
|
Ubiquitous |
|
|
| 6 | ABCB6 ABC14 UMAT MTABC3 ABCB6 |
2q33-q36 19 ex. 3.5 842 |
|
This gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function. |
NM 005689 |
Mouse Rat |
Mitochondria |
|
| 7 | ABC7 ATM1P ASAT ABCB7 |
Xq13.1-q13.3 2.4 |
|
Mutations in this gene have been implicated in X-linked sideroblastic anemia with ataxia. |
NM004299 |
Mouse Rat |
Mitochondria |
|
| 8 | M-ABC1 ABCB8 |
7q35-q36 2.4 |
|
|
NM 007188 |
Mouse Rat |
Mitochondria |
The function of this half-transporter has not yet been determined; however, it may involve the compartmentalization and transport of heme, as well as peptides, from the mitochondria to the nucleus and cytosol. This protein may also play a role in the transport of phospholipids into mitochondrial membranes. |
| 9 | ABCB9 TAPL ABCB9 |
12q24 3.5
kB |
|
|
NM 019624 NM019625 LocusLink Swiss-Prot GeneCard |
Mouse Rat |
Heart Brain Lysosomes |
|
| 10 | ABCB10 M-ABC2 MTABC2 |
1q42 (Pseudogene on 15q13-14) 4.1 kB 738 AA |
|
|
NM 012089 LocusLink Swiss-Prot GeneCard |
Mouse Rat |
Mitochondria |
Peptides? |
| 11 |
BSEP SPGP PFIC2 PGY4 ABC16 |
2q24 5.4 kB 1321 AA |
|
|
NM 003742 NP 003733 LocusLink Swiss-Prot GeneCard |
Mouse Rat |
Hepatocytes apical membranes |
|
| FXR | ||||||||
| Name/Symbol | Properties | Links | Phenotype | Access | Rodent | Tissue/Regulation | Function/Substrates | |
| 1 |
MRP1 MRP, ABCC, GS-X, ABC29 |
16p13.1 31 exons 6.5 kB 1531 AA |
|
This transporter is involved in multi-drug resistance. |
NM 004996 NP_004987 |
Mouse Rat |
Many
tissues Lung Testes PBMC lateral membranes |
|
| 2 |
MRP2 CMOAT |
10q24 32 exons 5.5 kB 1545 AA |
|
Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. |
NM 000392 NP_000383 |
Mouse Rat |
Liver Intestine Kidney apical membranes |
|
| FXR? | ||||||||
| 3 | MRP3 | 17q21.3 6.5 kB 1527 AA |
|
|
NM 003786 | Mouse Rat |
Intestine Kidney up-regulated in cholestatic livers lateral membranes |
|
| LRH-1, FXR? | ||||||||
| 4 | MRP4 |
13q32 6.5 1325 |
|
|
NM 005845 | Mouse Rat |
Many tissues |
|
| 5 | MRP5 | 3q27 6.6 kB 1437 AA |
|
|
NM 005688 NP 005679 |
Mouse Rat |
Many
tissues Liver |
|
| 6 | MRP6 | 16p13.1 6.5 kB 1503 AA |
|
NM 001171 | Mouse Rat |
Kidney Hepatocyte |
|
|
| 7 | CFTR | 7q31.2 27 exons 6 kB 1480 AA |
|
|
NM 000492 | Mouse Rat |
Lung Intestine (crypt) Cholangiocytes apical membranes |
This protein functions as a chloride channel and controls the regulation of other transport pathways. |
| 8 | SUR1 |
11p15.1 39 exons 5 kB 1581 AA |
|
|
NM 000352 | Mouse Rat |
Pancreas |
|
| 9 | SUR2 |
12p12.1 38 exons 5 kB 1549 AA |
|
No disease has been associated with this gene thus far. |
NM 005691 LocusLink Swiss-Prot GeneCard |
Mouse Rat |
Heart and skeletal muscle, with lower levels in all other tissues |
|
| 10 |
ABCC10 MRP7 |
6p21 22 exons 5.5 kB 1464 AA |
|
NM033450 NP258261 |
Mouse Rat |
Low in all tissues |
|
|
| 11 |
ABCC11 MRP8 |
16q12.1 28 exons 4.6 kB 1382 AA |
|
|
NM032583 NP115972 AF367202 NM033151 NP149163 NM145186 NP660187 |
Mouse Rat |
Low in all
tissues Liver Breast |
|
| 12 | ABCC12 | 16q12 29 exons 5 kB 1359 AA |
|
candidate for paroxysmal kinesigenic choreoathetosis, a disorder characterized by attacks of involuntary movements and postures, chorea, and dystonia. |
NM033226 NP150229 NM145187 NP660188 NM145188 NP660189 NM145189 NP660190 NM145190 NP660191 LocusLink Swiss-Prot GeneCard |
Mouse |
Low in all tissues |
|
| 13 |
ABCC13 |
21q11.2 14 exons 325 AA |
|
NM138726 NP620054 NM172024 NP742021 NM172025 NP742022 NM172026 NP742023 LocusLink Swiss-Prot GeneCard |
High
expression in the fetal liver also bone marrow in peripheral blood leukocytes of adult humans much lower and no detectable levels in differentiated hematopoietic cells |
|||
| ALD (subfamily D) | ||||||||
| Name/Symbol | Properties | Links | Phenotype | Access | Rodent | Tissue/Regulation | Function/Substrates | |
| 1 |
ALD ALDP |
Xq28 2.8 kB 745 AA |
|
Defects in this gene have been identified as the underlying cause of Adrenoleuko- dystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. Mutation DB GeneClinics |
NM 000033 | Mouse Rat |
Peroxisomes |
|
| 2 |
ALDL1 ALDR |
12q11 3.5 kB 740 AA |
|
Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis. |
NM 005164 | Mouse Rat |
Peroxisomes |
This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of ABCD1 and/or other peroxisomal ABC transporters. |
| PPARa | ||||||||
| 3 |
PXMP1 PMP70 |
1p21-22 3.3 kB 659 AA |
|
This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. |
NM 002858 NP002849 |
Mouse Rat |
Peroxisomes |
This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. |
| PPARa | ||||||||
| 4 |
PXMP1L P70R |
14q24.3 2.9 kB 606 AA |
|
|
NM005050 NP005041 NM020323 NP064719 NM020324 NP064720 NM020325 NP064730 NM020326 NP064731 |
Mouse Rat |
Peroxisomes |
This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. |
| OABP (subfamily E) | ||||||||
| Name/Symbol | Properties | Links | Phenotype | Access | Animals | Tissue/Regulation | Function/Substrates | |
| 1 | RNASELI OABP |
4q31 2.9 kB 402 AA |
|
|
NM 002940 | Mouse Rat |
Ovary Testes Spleen |
|
| GCN20 (subfamily F) | ||||||||
| Name/Symbol | Properties | Links | Phenotype | Access | Animals | Tissue/Regulation | Function/Substrates | |
| 1 | ABC50 ABCF1 |
6p21.33 3.14 807 |
|
|
NM 001090 LocusLink Swiss-Prot GeneCard |
Mouse Rat |
All |
|
| 2 | ABCF2 ABCF2 |
7q35-q36 2.2 kB 623 AA |
|
NM 005692 |
Mouse Rat |
All |
Iron inhibited ABC-transporter? |
|
| 3 | ABCF3 ABCF3 |
3q25.1 -q25.2 2.8 kB 709 AA |
|
NM018358 NP060828 LocusLink Swiss-Prot GeneCard |
Mouse Rat |
All |
|
|
| White (subfamily G) | ||||||||
| Name/Symbol | Properties | Links | Phenotype | Access | Animals | Tissue/Regulation | Function/Substrates | |
| 1 |
ABCG1 ABC8 White |
21q22.3 AB038161 2.7 kB 638 AA |
|
|
NM 004915 | Mouse Rat |
Brain Spleen Lung |
|
| LXRa,
PPARg ZNF202 (repressor) SHP (repressor by binding to LXR) |
||||||||
| 2 |
ABCG2 BCRP1 MXR1 ABCP ABCG2 |
4q22 2.4 kB 655 AA |
|
|
NM 004827 | Mouse Rat |
Placenta Breast Liver Intestine apical membranes |
|
| 3 | ABCG3? ABCG3? |
8p12 ? |
Mouse Rat |
In mouse high in spleen and thymus |
No human gene was found until now. High levels of expression in the thymus and spleen in mice suggest a potential role in the transport of specific peptides or hydrophobic compounds from lymphocytes. |
|||
| 4 |
ABCG4 White 2 |
11q23.3 3.5 kB 627 AA |
|
|
NM 022169 | Mouse Rat |
Macrophage Brain Eye Spleen |
|
| LXRa | ||||||||
| 5 |
ABCG5 White 3 Sterolin1 |
2p21 2.3 kB 651 AA |
|
Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with Sitosterolemia. |
NM 022436 NP071881 |
Mouse Rat
|
Liver Small Intestine Apical |
|
| LXRa | ||||||||
| 6 |
ABCG8 White 4 Sterolin2 |
2p21 2 kB 673 AA |
|
Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with Sitosterolemia. |
NM 022437 NP071882 |
Mouse Rat
|
Liver Small Intestine Apical |
|
| LXRa | ||||||||
Original reference (for
the EST mapping and sub-family assignments):
Allikmets et al. Human Molecular Genetics (1996) 5: 1649-1655.
see also
Dean M, Hamon Y, Chimini G.
The human ATP-binding cassette (ABC) transporter superfamily. J
Lipid Res. 2001 Jul;42(7):1007-17.
Dean M, Rzhetsky A, Allikmets R. The human ATP-binding cassette (ABC) transporter
superfamily. Genome Res. 2001 Jul;11(7):1156-66.
| Fly | Worm | Yeast | Plant Arabidopsis | Mouse | Human | |
| ABC-Transporter Genes | 56 | 56 | 31 | 129 | 51 | 49 |
Thanks to Rando Allikmets, Susan Cole, Michael Dean, Stefan Gruenwald, Toshihisa Ishikawa, Wolfgang Kaminski, Stephan Kemp, Dietrich Keppler, Marcia Lachtermacher, Thomas Langmann, Roland Lill, Amanda Lumsden, Lorella Pascolo, Mustafa Porsch-Özürümez, Wolfgang Sattler, Erasmus Schneider, Steve Sutton, Hester Wain for helpful comments and support.
October 20, 1996 by MM
update 11-2006
© M.Müller
corrections and comments to Michael Müller