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

ABC1 (subfamily A)

  Name/Symbol  Properties Links Phenotype Access Animals Tissue/Regulation Function/Substrates
1 ABC1
TGD
HDLDT1
CERP

ABCA1

9q22-q31
52 Exons
SeqView
 

6.9 kB

2261 AA
254284 Da

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Online Mendelian Inheritance in Man
Mutations in this gene have been associated with Tangier Disease T1
 and familial high-density lipoprotein deficiency.


also Tangier

NM005502
 

LocusLink
Swiss-Prot
GeneCard
 

Mouse
PubMed:12586783,12551894,12547832,12511593,12488454,12487373,12466851,12384498,12215451,12196520,12151852,12105210,12050168,11972062,11909955,11896206,11893753,11752403,11741998,11559713,11352567,11217851,11076861,11042159,10760292,10655069,10581369,10349636,8088782,7774911RefSeq Nucleotide:NM_013454GenBank Nucleotide:AF287263,AK019548,AK045442,X75926,noneProtein:AAG39073,CAA53530,NP_038482,P41233Homologene dataUniGene:Mm.369
Rat
PubMed:12746305RefSeq Nucleotide:NM_178095,XM_232954GenBank Nucleotide:AY208182Protein:AAO53557,NP_835196,XP_232954Homologene dataUniGene:Rn.6579
Many tissues

 

PubMed
ABCA1 is a major regulator of cellular cholesterol and phospholipid homeostasis. It mediates e.g. the efflux of phospholipids (PS) and cholesterol from macrophages to apoA-I, reversing foam cell formation. Likely not involved in hepatic cholesterol secrection and intestinal apical cholesterol transport (→ ABCG5/G8).

LXRa
2 ABCA2
ABCA2

9q34
48 Exons
SeqView
 

8 kB

2436 AA

 

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Online Mendelian Inheritance in Man NM001606 
 

LocusLink
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GeneCard

 

Mouse
PubMed:12466851,8088782RefSeq Nucleotide:NM_007379GenBank Nucleotide:X75927,noneProtein:CAA53531,NP_031405,P41234Homologene dataUniGene:Mm.2210
Rat
PubMed:12483687,12210128,10970803RefSeq Nucleotide:NM_024396GenBank Nucleotide:AB037937Protein:BAB16596,NP_077372Homologene dataUniGene:Rn.13115
Brain
Kidney
Lung
Heart

PubMed

 

3 ABCA3
ABC-C
ABCA3
16p13.3
SeqView
 

6.5 kB

1704 AA

 

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Online Mendelian Inheritance in Man NM001089
 

LocusLink
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Mouse
PubMed:12477932,12466851,11940594,11217851,11076861,11042159,10708515,10349636RefSeq Nucleotide:NM_013855,XM_128465GenBank Nucleotide:AF213394,AK007703,AK084778,AK089794,AY083616,BC020183,BC042663Protein:AAF31433,AAH42663,AAL99380,BAB25200,NP_038883,XP_128465Homologene dataUniGene:Mm.239470Variation data
Rat
RefSeq Nucleotide:XM_220219Protein:XP_220219Homologene data
Lung
+ other tissues
PubMed
4 ABCR
RP19, ABC10
FFM, STGD1
STGD, RIM,
RMP

ABCA4

1p22
50 Exons.
SeqView
 

7.3 kB

2273 AA
 

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Online Mendelian Inheritance in Man
Mutations in this gene are found in patients diagnosed with
Stargardt disease-1 and are associated with Age-related Mac.dyst.2
Ret. pigmentosa

Retina Mut. Db

NM000350
 

LocusLink
Swiss-Prot

GeneCard

 

Mouse
PubMed:12466851,11217851,11076861,11042159,10852960,10412977,10349636,9202155,8889548RefSeq Nucleotide:NM_007378GenBank Nucleotide:AF000149Protein:AAC23916,NP_031404Homologene dataUniGene:Mm.3918
Rat


Bos taurus
PubMed:9222095,9092582RefSeq Nucleotide:NM_174221GenBank Nucleotide:U78767,U90126Protein:AAB81233,AAC48716,NP_776646Homologene dataUniGene:Bt.5067

Retina, photoreceptor cells

PubMed
This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane.

5 ABCA5
ABCA5
17q21-q24
 

6.5 kB

1642 AA
 

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  NM018672
 

LocusLink
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Mouse
PubMed:12532264,12466851,11217851,11076861,11042159,10349636RefSeq Nucleotide:NM_147219GenBank Nucleotide:AB097675,AF491842,AK034961,AK046203,AK047188Protein:AAM90895,BAC28896,BAC32984,BAC66658,NP_671752Homologene dataUniGene:Mm.41942
Rat
PubMed:12504089RefSeq Nucleotide:NM_173307GenBank Nucleotide:AJ426052Protein:CAD19800,NP_775429UniGene:Rn.60309
Muscle
Heart
Testes

upregulated in cultured hepatocytes

PubMed
6 ABCA6
ABCA6
17q21
 

5.3 kB

1617 AA

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  NM080284
 

LocusLink
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Mouse
PubMed:12532264,11217851,11076861,11042159,10349636RefSeq Nucleotide:NM_147218GenBank Nucleotide:AF498361,AK018242,AK040652,AK042934,AK053384Protein:AAM90907,BAC30657,BAC31409,BAC35372,NP_671751Homologene dataUniGene:Mm.159704Variation data
Rat

 

Liver

 

PubMed
7 ABCA7
ABCX

ABCA7

19p13.3
SeqView
 

6.6 kB

2146 AA
 

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Online Mendelian Inheritance in Man NM019112
 

LocusLink
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Mouse
PubMed:12466851,11435699,10708515RefSeq Nucleotide:NM_013850GenBank Nucleotide:AF287142,AF213395,AF287141Protein:AAF31434,AAK56862,AAK56863,NP_038878Homologene dataUniGene:Mm.103351Variation data
Rat
PubMed:12727224RefSeq Nucleotide:XM_216829Protein:XP_216829Homologene data
Peripheral leukocytes, Thymus, Spleen, Bone marrow

PubMed
This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. Alternative splicing of this gene results in two transcript variants.

8 ABCA8
ABCA8
17q24
 

5.7 kB

1581 AA
 

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  NM007168
 

LocusLink
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Mouse
PubMed:12532264,12466851,11217851,11076861,11042159,10708515,10349636RefSeq Nucleotide:NM_013851GenBank Nucleotide:AF213393,AF498362Protein:AAF31432,AAM90908,NP_038879Homologene dataUniGene:Mm.38377
Rat
Ovary

PubMed
This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known.

9 ABCA9
ABCA9
17q24
 

6 kB

1624 AA

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  NM080283
 

LocusLink
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Mouse
PubMed:12532264,12466851,11217851,11076861,11042159,10349636RefSeq Nucleotide:NM_147220GenBank Nucleotide:AF491299,AK028451,AK029256,AK085555Protein:AAM90894,BAC25959,BAC26358,NP_671753Homologene dataUniGene:Mm.31164
Rat

 

Heart

PubMed
This gene is clustered among 4 other ABC1 family members on 17q24 and may play a role in monocyte differentiation and macrophage lipid homeostasis.

10 ABCA10
ABCA10
17q24
 

6.18 kB

1543 AA

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LocusLink
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Mouse

Rat

 

Muscle
Heart

also in monocytes and M-CSF differentiated macrophages

PubMedPubMed
This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known.
ABCA10 expression is suppressed by cholesterol import into macrophages, indicating that it is a cholesterol-responsive gene.

11 ABCA12
ABCA12
2q35
 

7 kB

2595 AA

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Online Mendelian Inheritance in Man NM015657

LocusLink
Swiss-Prot
GeneCard

 
Mouse
RefSeq Nucleotide:XM_129867GenBank Nucleotide:AF420436Protein:AAN40877,XP_129867UniGene:Mm.234284
Rat

 

Stomach PubMedPubMed
12 ABCA13
ABCA13
7p11-q11

gene 450 kB
62 exons


5058 AA!!

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Online Mendelian Inheritance in Man NM152701

LocusLink
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Mouse
PubMed:12466851,11217851,11076861,11042159,10349636RefSeq Nucleotide:NM_178259,XM_193593GenBank Nucleotide:AK044229,AY160971Protein:AAO18684,BAC31829,NP_839990,XP_193593Homologene dataUniGene:Mm.39270Variation data
Rat

 

Major transcript shows highest expression in human trachea, testis, and bone marrow

PubMed
The predicted ABCA13 protein consists of 5,058 amino acid residues making it the largest ABC protein described to date. ABCA13 contains a hydrophobic, predicted transmembrane segment at the N-terminus, followed by a large hydrophilic region.

MDR/TAP (subfamily B)

  Name/Symbol Properties Links Phenotype Access Animal Tissue/Regulation Function/Substrates
1 PGY1
MDR1
P-GP
GP170

ABCB1

7q21
28 exons

 

4.5

1280 AA

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Online Mendelian Inheritance in Man NM000927
 

LocusLink
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Mouse Abcb1a
PubMed:12466851,12445692,12213137,12150717,11984826,11741934,11678173,11217851,11076861,11042159,10349636,8453638,7734734,2473069,2471060,1972547,1969610,1969609RefSeq Nucleotide:NM_011076GenBank Nucleotide:M33580,AK008292,M24417,M30697,M33581,noneProtein:AAA03243,AAA39514,AAA39517,AAA39518,BAB25582,NP_035206,P21447Homologene dataUniGene:Mm.16086
Rat Abcb1a

PubMed:8104413RefSeq Nucleotide:NM_133401GenBank Nucleotide:X61103,AF257746,AF286167,S66618Protein:AAF69007,AAK83023,CAA43415,NP_596892Homologene dataUniGene:Rn.89635
Mouse Abcb1b
PubMed:12662900,12466851,12376467,12296850,12213137,11217851,11076861,11042159,10349636,7592715,3768958,2887402,2570420,2473069,2248681,1972547,1969610,1783386,1671222RefSeq Nucleotide:NM_011075GenBank Nucleotide:AF033025,M57524,M60348,AK030328,AK048297,M14757,noneProtein:AAA39513,AAA79005,AAB86971,NP_035205,P06795Homologene dataUniGene:Mm.6404
Rat Abcb1b
PubMed:12626638,12423064,12138126,1682220,1348630RefSeq Nucleotide:NM_012623GenBank Nucleotide:AY082609,M81855Protein:AAL92458,NP_036755Homologene dataUniGene:Rn.82691
Many tissues (especially those with barrier functions such as liver, BBB, kidney, intestine, placenta)

apical membranes
 

PubMed
The protein (also called P-glycoprotein) is an ATP-dependent drug efflux pump for xenobiotic compounds with broad substrate specificity. It is responsible for decreased drug accumulation in multidrug-resistant cells and often mediates the development of resistance to anticancer drugs.

 
2 TAP1
PSF1
RING4
ABC17
APT1
D6S114E

ABCB2

6p21.3
11 exons

2.5

808 AA

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Online Mendelian Inheritance in Man
Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease.
NM000593
 

LocusLink
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Mouse
PubMed:12594855,12477932,12466851,11870626,11858821,11217851,11076861,11042159,10349636,9164943,2270487,1855816,1711220,1473153RefSeq Nucleotide:NM_013683GenBank Nucleotide:AF027865,BC013802,BC024897,M55637,U60018,U60019,U60020,U60021,U60022,U60023,X59615,noneProtein:AAA39570,AAB41962,AAB41963,AAB41964,AAB41965,AAB41966,AAB41967,AAB81534,AAH13802,AAH24897,CAA42178,NP_038711,P21958UniGene:Mm.207996Variation data
Rat
PubMed:12470953,11532014,1979660RefSeq Nucleotide:NM_032055GenBank Nucleotide:X57523,Y10230,Y10231,Y10232,Y10233,Y10234,Y10235Protein:CAA40742,CAA71279,CAA71280,CAA71281,CAA71282,CAA71283,CAA71284,NP_114444UniGene:Rn.10763
Most cells
ER

PubMed
The protein is a half-abc transporter functioning as peptide transporter involved in the pumping of degraded cytosolic peptides across the endoplasmic reticulum into the membrane-bound compartment where class I molecules assemble.

3 TAP2
PSF2
RING11
D6S217E
ABC18

ABCB3

6p21.3
11 ex.

2.8

653

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Online Mendelian Inheritance in Man
Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease.

NM000544
 

LocusLink
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GeneCard

 

Mouse
PubMed:12594855,12477932,12466851,11217851,11076861,11042159,10349636,9164943,2270487,1538753,1339432RefSeq Nucleotide:NM_011530GenBank Nucleotide:AF027865,AF307513,AK020022,BC005578,M90459,U60087,U60088,U60089,U60090,U60091,U60092,noneProtein:AAA39609,AAB41968,AAB41969,AAB41970,AAB41971,AAB41972,AAB41973,AAB81533,AAG59809,AAH05578,NP_035660,P36371UniGene:Mm.14814Variation data
Rat
PubMed:1758495RefSeq Nucleotide:NM_032056GenBank Nucleotide:X63854,X75305,X75306,X75307Protein:CAA45339,CAA53053,CAA53054,CAA53055,NP_114445Homologene dataUniGene:Rn.10372
Most cells
ER

PubMed
The protein is a half-abc transporter functioning as peptide transporter involved in antigen presentation. It forms a heterodimer with TAP1/ABCB2 in order to transport peptides from the cytoplasm to the endoplasmic reticulum. Alternative splicing of this gene produces two products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules.

4 PGY3
MDR2/3
MDR3
PFIC-3
ABC21 

ABCB4

7q21
28 exons

4.5

1279

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Online Mendelian Inheritance in Man

PFIC-3
ICP
NM000443

LocusLink
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Mouse
PubMed:12466851,12381268,3405218,2570420,2248681RefSeq Nucleotide:NM_008830GenBank Nucleotide:M74151,J03398,noneProtein:AAA39515,AAA39516,NP_032856,P21440Homologene dataUniGene:Mm.14172
Rat
PubMed:8103593,1348630RefSeq Nucleotide:NM_012690GenBank Nucleotide:X61105,L15079Protein:AAA02937,CAA43417,NP_036822Homologene dataUniGene:Rn.9679
Hepatocyte

apical membranes
 

 

PubMed
Most likely involved in biliary phosphatidylcholine secretion from hepatocytes in a bile salt-dependent manner. Biliary PC is necessary to keep the bile "non-toxic".

PPARa?, FXR?
5 ABCB5
ABCB5
7p14
 

7.5

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  U66692
AC002486

XM291215
 

LocusLink
Swiss-Prot
Genecard

 

Mouse

Rat

 

Ubiquitous PubMed
6 ABCB6
ABC14
UMAT
MTABC3

ABCB6
2q33-q36
19 ex.

3.5

842

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Online Mendelian Inheritance in Man
This gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function.
NM 005689
 

LocusLink
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Mouse
PubMed:12477932,12466851,11217851,11076861,11042159,10349636RefSeq Nucleotide:NM_023732GenBank Nucleotide:AF045562,AK004605,BC006634Protein:AAC05261,AAH06634,BAB23404,NP_076221Homologene dataUniGene:Mm.28663
Rat
PubMed:9705847,9288777RefSeq Nucleotide:NM_080582GenBank Nucleotide:AF106563,AJ003004Protein:AAC83936,CAA05793,NP_542149Homologene dataUniGene:Rn.54408
Mitochondria

PubMed
This half-transporter likely plays a role in mitochondrial function and possibly transports iron.

7 ABC7
ATM1P
ASAT

ABCB7
Xq13.1-q13.3
 

2.4

752

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Mutations in this gene have been implicated in X-linked sideroblastic anemia with ataxia.

NM004299
 

LocusLink
Swiss-Prot
GeneCard

 

Mouse
PubMed:12480705,11217851,11076861,11042159,10349636,9143506GenBank Nucleotide:AA517758,AK040069,AK084853,AU019072,BC035534,U43892,noneProtein:AAC53152,Q61102UniGene:Mm.4739
Rat
Mitochondria

PubMed
This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis.

8 M-ABC1

ABCB8
7q35-q36

2.4

718

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Online Mendelian Inheritance in Man NM 007188
 

LocusLink
Swiss-Prot
GeneCard
 

Mouse
PubMed:10708515GenBank Nucleotide:AA544556,AF213391Protein:AAF31430UniGene:Mm.195099Variation data
Rat
Mitochondria PubMed
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

723 AA
766 AA

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Online Mendelian Inheritance in Man NM 019624
NM019625


LocusLink
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Mouse
PubMed:12466851,11217851,11076861,11042159,11011155,10748049,10349636RefSeq Nucleotide:NM_019875GenBank Nucleotide:AB045382,AB093298,AF216495,AK020749,AK044140Protein:AAF89994,BAA97990,BAB32200,BAC31796,BAC41480,NP_063928Homologene dataUniGene:Mm.41213
Rat
PubMed:10471785RefSeq Nucleotide:NM_022238GenBank Nucleotide:AB027520Protein:BAA85306,NP_071574Homologene dataUniGene:Rn.44870
Heart
Brain
Lysosomes

PubMed
The function of this half-transporter has not yet been determined; however, this protein may play a role in lysosomes. Alternative splicing of this gene results in two known products which are likely to have different substrate specifications.

10 ABCB10
M-ABC2
MTABC2

ABCB10

1q42
(Pseudogene on 15q13-14)

4.1 kB

738 AA

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Online Mendelian Inheritance in Man NM 012089

LocusLink
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Mouse
PubMed:12477932,12466851,11217851,11076861,11042159,10835348,10349636RefSeq Nucleotide:NM_019552GenBank Nucleotide:AF266284,AK011569,AK081143,AK081782,BC046818Protein:AAF76889,AAH46818,BAB27704,BAC38331,NP_062425Homologene dataUniGene:Mm.143731Variation data
Rat
Mitochondria PubMed
Peptides?
11 BSEP
SPGP
PFIC2
PGY4
ABC16

ABCB11

2q24

5.4 kB

1321 AA

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Online Mendelian Inheritance in Man
Mutations in this gene cause a form of progressive familial intrahepatic cholestases (PFIC-2) which are a group of inherited disorders with severe cholestatic liver disease from early infancy.

NM 003742
NP 003733

LocusLink
Swiss-Prot
GeneCard

 
Mouse
PubMed:12562825,12466851,12399219,10708515,10607905RefSeq Nucleotide:NM_021022GenBank Nucleotide:AF133903,AF186585,AF213392Protein:AAD56419,AAF14372,AAF31431,NP_066302Homologene dataUniGene:Mm.26728
Rat
PubMed:12135489,9545351RefSeq Nucleotide:NM_031760GenBank Nucleotide:AF010597,U69487Protein:AAC24753,AAC40084,NP_113948Homologene dataUniGene:Rn.14539
Hepatocytes apical membranes

  PubMed
BSEP is the major canalicular bile salt export pump in man responsible for active transport of bile salts across the hepatocyte canalicular membrane into bile. It represents the molecular basis of the bile-salt-dependent bile flow. BSEP activity is necessary for PC secretion via PGY3/ABCB4.

FXR

CFTR/MRP (subfamily C)

  Name/Symbol Properties Links Phenotype Access Rodent Tissue/Regulation  Function/Substrates
1 MRP1
MRP, ABCC,
GS-X,  ABC29

ABCC1

16p13.1
31 exons

6.5 kB

1531 AA

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Online Mendelian Inheritance in Man
This transporter is involved in multi-drug resistance.
NM 004996
NP_004987

LocusLink
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GeneCard

 

Mouse
PubMed:12466851,11689020,11217851,11076861,11042159,10944550,10708515,10675353,10581366,10413292,10349636,9778357,8885844,8649356RefSeq Nucleotide:NM_008576GenBank Nucleotide:AF022908,AF213389,AK029876,AK033750,AK045109,AK049174,BC026509Protein:AAB80938,AAF31429,BAC26654,BAC32226,BAC33586,NP_032602Homologene dataUniGene:Mm.196634Variation data
Rat
PubMed:12125073,11689020,11208926,8662992RefSeq Nucleotide:NM_022281GenBank Nucleotide:AF487549,AJ277881,AY170916,AY174892,AY174893,X96394Protein:AAN86532,AAO44983,AAO44984,AAO85437,CAA65258,CAB97204,NP_071617UniGene:Rn.10495
Many tissues
Lung
Testes
PBMC
lateral membranes

PubMed
MRP1 functions as a multispecific organic anion transporter, with (oxidized) glutathione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. It also transports drugs and other hydrophobic compounds in presence of glutathione.

 
2 MRP2
CMOAT 

ABCC2

10q24
32 exons

5.5 kB

1545 AA

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Online Mendelian Inheritance in Man

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

LocusLink
Swiss-Prot

GeneCard

 

Mouse
PubMed:12466851,11004524,10944550,10708515,10581368,10581366RefSeq Nucleotide:NM_013806GenBank Nucleotide:AF213388,AF227274,AF282772,AF282773Protein:AAF31428,AAF61707,AAL36985,AAL36986,NP_038834Homologene dataUniGene:Mm.39054
Rat
PubMed:12623073,12085350,11897625,8662992,8599091RefSeq Nucleotide:NM_012833GenBank Nucleotide:D86086,L49379,X96393Protein:AAC42087,BAA13016,CAA65257,NP_036965Homologene dataUniGene:Rn.10265
Liver
Intestine Kidney

apical membranes

PubMed
MRP2 is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport of mainly anionic conjugates with glutathione, with sulfate or with glucuronosyl e.g. glucuronosyl bilirubin. Other substrates include anticancer drugs such as vinblastine (similar specificity as MRP1/ABCC1); appears to contribute to drug resistance.

FXR?
3 MRP3

ABCC3

17q21.3

6.5 kB

1527 AA

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Online Mendelian Inheritance in Man NM 003786

LocusLink
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Mouse
PubMed:11217851,11076861,11042159,10349636RefSeq Nucleotide:NM_029600GenBank Nucleotide:AK006128Protein:BAB24422,NP_083876Homologene dataUniGene:Mm.23942
Rat
PubMed:11897632,9614210RefSeq Nucleotide:NM_080581GenBank Nucleotide:AB010467Protein:BAA28955,NP_542148Homologene dataUniGene:Rn.88248
Intestine
Kidney

up-regulated in cholestatic livers

lateral membranes

PubMed
The specific function of this protein has not yet been determined; however, this protein may play a role in the transport of biliary and intestinal excretion of organic anions including bile salts.

LRH-1, FXR?
4 MRP4

ABCC4

13q32

6.5

1325

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Online Mendelian Inheritance in Man NM 005845

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Mouse
PubMed:12499391,12466851,11217851,11076861,11042159,10349636RefSeq Nucleotide:XM_139262GenBank Nucleotide:AK032802,AK052778Protein:XP_139262Homologene dataUniGene:Mm.238046Variation data
Rat
RefSeq Nucleotide:XM_224522GenBank Nucleotide:AF376781Protein:AAK55412,XP_224522Homologene dataUniGene:Rn.13195
Many tissues

PubMed
The human multidrug resistance protein MRP4 is an organic anion transporter that transports cyclic nucleotides and some nucleoside monophosphate analogs including nucleoside-based antiviral drugs (specificity similar to MRP5)
MRP4 also transports prostaglandins.

5 MRP5 

ABCC5

3q27
 

6.6 kB

1437 AA

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Online Mendelian Inheritance in Man NM 005688
NP 005679

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Mouse
PubMed:12466851,10944550,10721709,10708515,10581366RefSeq Nucleotide:NM_013790GenBank Nucleotide:AB012090,AB019003,AF213387Protein:AAF31427,BAA32782,BAA76609,NP_038818Homologene dataUniGene:Mm.20845Variation data
Rat
Many tissues

Liver

PubMed
The human multidrug resistance protein MRP5 is an organic anion transporter that transports cyclic nucleotides and some nucleoside
monophosphate analogs including nucleoside-based antiviral drugs (specificity similar to MRP4)

 
6 MRP6

ABCC6

16p13.1

6.5 kB

1503 AA

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Online Mendelian Inheritance in Man
Pseudoxanthoma
elasticum

NM 001171

LocusLink
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Mouse
PubMed:12466851,10708515RefSeq Nucleotide:NM_018795,XM_193033GenBank Nucleotide:AB028737,BC040400Protein:BAA83820,NP_061265,XP_193033UniGene:Mm.63514
Rat
PubMed:9614210RefSeq Nucleotide:NM_031013GenBank Nucleotide:AB010466,U73038Protein:AAD12747,BAA28954,NP_112275Homologene dataUniGene:Rn.29976
Kidney
Hepatocyte

lateral membranes

PubMed
In humans, MRP6 is highly expressed in the liver and kidney. Lower expression was found in tissues affected by pseudoxanthoma elasticum, including skin, retina, and vessel walls. Functional studies suggests that small peptides (BQ123) are transported by rat Mrp6. Recent studies show also transport of glutathione conjugates.

 
7 CFTR

ABCC7

7q31.2
27 exons
 

6 kB

1480 AA
 

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Online Mendelian Inheritance in Man
Mutations in this gene have been observed in patients with the autosomal recessive disorders
Cystic Fibrosis (CF) and congenital bilateral aplasia of the vas deferens (CBAVD).

NM 000492

LocusLink
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Mouse
PubMed:12709507,12529261,12482874,12475744,12466851,12194970,11988083,11904291,11823443,11815669,11217851,11076861,11042159,10655503,10556281,10349636,8889548,7691356,7689012,7545404,7526924,1717363,1716243,1712752,1377165,1284480RefSeq Nucleotide:NM_021050GenBank Nucleotide:AF162137,AF176095,AY005797,L04873,M84614,S65940,S65941,S65942,AK078912,M60493,M69298,M84613,X72693,X72694,noneProtein:AAA18903,AAA37417,AAA73562,AAB28391,AAF15512,AAF30300,AAF97814,CAA51242,CAA51243,NP_066388,P26361Homologene dataUniGene:Mm.15621Variation data
Rat
PubMed:12110684,11937500RefSeq Nucleotide:XM_231510GenBank Nucleotide:M89906Protein:AAA40918,XP_231510Homologene dataUniGene:Rn.92299
Lung
Intestine (crypt)
Cholangiocytes

apical membranes

PubMed
This protein functions as a chloride channel and controls the regulation of other transport pathways.
 
8 SUR1

ABCC8

11p15.1
39 exons

5 kB

1581 AA

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Online Mendelian Inheritance in Man
Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion.

NM 000352

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Mouse
PubMed:12511769,12496311,12466851,12149271,11981044,11217851,11076861,11042159,10708515,10370080,10349636RefSeq Nucleotide:XM_133448GenBank Nucleotide:AF037274,AF037275,AF037276,AF037277,AF037278,AF037279,AF037280,AF037281,AF037282,AF037283,AF037284,AF037285,AF037286,AF037287,AF037288,AF037289,AF037290,AF037291,AF037292,AF037293,AF037294,AF037295,AF037296,AF037297,AF037298,AF037299,AF037300,AF037301,AF037302,AF037303,AF037304,AF037305,AF037306,AF037307,AF037308,AF037309,AF037310,AF037311,AF037312,AA419733,AF213386,AK083916Protein:AAC72292,AAC72293,AAF31426,BAC39060,XP_133448Homologene dataUniGene:Mm.147824
Rat
PubMed:12496311,12163042,7716548,7716547RefSeq Nucleotide:NM_013039GenBank Nucleotide:AB052294,AF039595,L40624,X97279Protein:AAA99237,AAB96684,BAB19011,CAA65934,NP_037171Homologene dataUniGene:Rn.11187
Pancreas

PubMed
This protein functions as a modulator of ATP-sensitive potassium channels and insulin release.

 
9 SUR2

ABCC9

12p12.1
38 exons

5 kB

1549 AA

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No disease has been associated with this gene thus far.
NM 005691

LocusLink
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Mouse
PubMed:12122112,11217851,11076861,11042159,10708515,10349636,10224138,10022826,9321483,8826984,8798681RefSeq Nucleotide:NM_011511,NM_021041,NM_021042,NM_021043GenBank Nucleotide:AF003531,AK036423,AK048665,AK052291,D86037,D86038,U97066,noneProtein:AAB58701,AAB58753,BAA12969,BAA12970,BAC34920,NP_035641,NP_066378,NP_066379,NP_066380,P70170Homologene dataUniGene:Mm.35670Variation data
Rat
PubMed:12677015,12163042,11967023,11927600,8630239RefSeq Nucleotide:NM_013040GenBank Nucleotide:AB045281,AF019628,AF087838,D83598Protein:AAC24758,AAC36347,BAA12020,BAA97256,NP_037172Homologene dataUniGene:Rn.10528
Heart and skeletal muscle, with lower levels in all other tissues

PubMed
This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extrapancreatic ATP-sensitive potassium channels.

 
10 ABCC10
MRP7

ABCC10

6p21
22 exons

5.5 kB

1464 AA

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  NM033450
NP258261

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Mouse
PubMed:12466851,11943485RefSeq Nucleotide:NM_145140,NM_170680GenBank Nucleotide:AF406642,AF417121Protein:AAM18535,AAM18536,NP_660122,NP_733780Homologene dataUniGene:Mm.76543
Rat
Low in all tissues

PubMed
MRP7/ABCC7 has shown to transport estradiol(2)17beta glucuronide and less well also LTC4. E(2)17betaG transport was saturable, with Km and Vmax values of 57.8 microM and 53.1  pmol/mg/min.

 
11 ABCC11
MRP8

ABCC11

16q12.1
28 exons

4.6 kB

1382 AA

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NM032583
NP115972

AF367202
NM033151
NP149163
NM145186
NP660187

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Mouse

Rat
Low in all tissues
Liver
Breast

PubMed
MRP8/ABCC11 is expressed at low levels in all tissues, except kidney, spleen, and colon. This gene and family member ABCC12 are determined to be derived by duplication and are both localized to chromosome 16q12.1. Their chromosomal localization, potential function, and expression patterns identify them as candidates for paroxysmal kinesigenic choreoathetosis, a disorder characterized by attacks of involuntary movements and postures, chorea, and dystonia. Multiple alternatively spliced transcript variants have been described for this gene.

 
12 ABCC12

ABCC12

16q12
29 exons

5 kB

1359 AA

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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
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Mouse
PubMed:12801629,12466851,11217851,11076861,11042159,10349636RefSeq Nucleotide:NM_172912GenBank Nucleotide:AK029684,AK030123Protein:BAC26794,NP_766500Homologene dataUniGene:Mm.67485
Low in all tissues

PubMed
ABCC12 is expressed at low levels in testes, ovary + prostate tissues. This gene and family member ABCC11 are determined to be derived by duplication and are both localized to chromosome 16q12.1.  Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene but some of their full length sequences are not available.

 
13 ABCC13
21q11.2
14 exons
 

325 AA

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  NM138726
NP620054 
NM172024
NP742021
NM172025
NP742022
NM172026
NP742023
LocusLink

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  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

PubMed
 

ALD (subfamily D)
  Name/Symbol Properties Links Phenotype Access Rodent Tissue/Regulation Function/Substrates
1 ALD
ALDP

ABCD1

Xq28

2.8 kB

745 AA

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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

LocusLink
Swiss-Prot
GeneCard
 

Mouse
PubMed:12509471,12477932,12466851,11217851,11076861,11042159,10708515,10504404,10349636,8838803,7894167RefSeq Nucleotide:NM_007435GenBank Nucleotide:AF133093,AJ009991,AF213385,AK009552,AK088792,BC011273,Z33637,noneProtein:AAF22146,AAF31425,AAH11273,BAB26353,BAC40574,CAA08935,CAA83917,NP_031461,P48410Homologene dataUniGene:Mm.365Variation data
Rat
Peroxisomes

PubMed
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. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids.

 
2 ALDL1
ALDR

ABCD2

12q11 

3.5 kB

740 AA

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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

LocusLink
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Mouse
PubMed:12477932,12466851,11217851,11076861,11042159,10504404,10349636,8577752RefSeq Nucleotide:NM_011994GenBank Nucleotide:AJ009992,AJ009993,AK051445,AK082588,AK087653,BC019187,Z48670Protein:AAH19187,BAC34641,BAC38542,CAA88589,CAB52294,CAB52395,NP_036124Homologene dataUniGene:Mm.4817Variation data
Rat
PubMed:11342107RefSeq Nucleotide:NM_033352GenBank Nucleotide:AF131294Protein:AAF22142,NP_203503Homologene dataUniGene:Rn.19678
Peroxisomes PubMed
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 

ABCD3

1p21-22 

3.3 kB

659 AA

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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 

LocusLink
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Mouse
PubMed:12466851,11217851,11076861,11042159,10349636,9521874,7551822,7544098RefSeq Nucleotide:NM_008991GenBank Nucleotide:AF028806,L28836,AK004660,BC009119,X89569,noneProtein:AAA39958,AAC02967,AAH09119,BAB23450,CAA61748,NP_033017,P55096Homologene dataUniGene:Mm.1519
Rat
PubMed:12176987,11883951,1968461RefSeq Nucleotide:NM_012804GenBank Nucleotide:D90038Protein:BAA14086,NP_036936Homologene dataUniGene:Rn.7024
Peroxisomes PubMed
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 

ABCD4

14q24.3 

2.9 kB

606 AA

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Online Mendelian Inheritance in Man NM005050
NP005041
NM020323
NP064719
NM020324
NP064720
NM020325
NP064730
NM020326
NP064731

LocusLink
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Mouse
PubMed:12477932,12466851,10708515,10504404,9738957RefSeq Nucleotide:NM_008992GenBank Nucleotide:AF213384,AJ001166,BC050102,noneProtein:AAF31424,AAH50102,CAA04570,NP_033018,O89016Homologene dataUniGene:Mm.229109Variation data
Rat
Peroxisomes PubMed
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 

ABCE1

4q31 

2.9 kB

402 AA

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Online Mendelian Inheritance in Man NM 002940

LocusLink
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Mouse
PubMed:12466851,11217851,11076861,11042159,10708515,10349636,9524254,9234238RefSeq Nucleotide:NM_015751GenBank Nucleotide:AK049299,AK088265,BC005422,U90446Protein:AAC24730,AAH05422,BAC40245,NP_056566Homologene dataUniGene:Mm.5831
Rat
Ovary
Testes
Spleen

PubMed
This protein is a member of the OABP subfamily. Alternatively referred to as the RNase L inhibitor, this protein functions to block the activity of ribonuclease L. Activation of ribonuclease L leads to inhibition of protein synthesis in the 2-5A/RNase L system, the central pathway for viral interferon action.

GCN20 (subfamily F)
  Name/Symbol Properties Links Phenotype Access Animals Tissue/Regulation  Function/Substrates
1 ABC50
ABCF1
6p21.33

3.14

807

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Online Mendelian Inheritance in Man NM 001090

LocusLink
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Mouse
PubMed:12477932,11217851,11076861,11042159,10708515,10349636RefSeq Nucleotide:XM_128626GenBank Nucleotide:BC040783,BC046965Protein:XP_128626Homologene dataUniGene:Mm.190534
Rat
PubMed:10931828RefSeq Nucleotide:XM_215301GenBank Nucleotide:AF293383Protein:AAG23960,XP_215301Homologene dataUniGene:Rn.14350
All

PubMed
Unlike other members of the superfamily, this protein lacks the transmembrane domains which are characteristic of most ABC transporters. This protein may be regulated by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis and the inflammation process.

2 ABCF2
ABCF2
7q35-q36 

2.2 kB

623 AA

PubMed
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  NM 005692
 

LocusLink
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Mouse
PubMed:12477932,12466851,11217851,11076861,11042159,10708515,10349636RefSeq Nucleotide:NM_013853GenBank Nucleotide:AF213382,AK003005,AK087990,BC003300Protein:AAF31422,AAH03300,BAC40079,NP_038881Homologene dataUniGene:Mm.21629
Rat
All

Iron inhibited ABC-transporter?

3 ABCF3
ABCF3
3q25.1
-q25.2

2.8 kB

709 AA

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Mammalian Gene Collection
  NM018358
NP060828

LocusLink
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Mouse
PubMed:12477932,12466851,11217851,11076861,11042159,10708515,10349636RefSeq Nucleotide:NM_013852,XM_148007GenBank Nucleotide:AF213381,AK003527,AK030626,BC032923Protein:AAF31421,AAH32923,NP_038880,XP_148007Homologene dataUniGene:Mm.27135Variation data

Rat
All PubMed
White (subfamily G)
  Name/Symbol Properties Links Phenotype Access Animals Tissue/Regulation  Function/Substrates
1 ABCG1
ABC8
White

ABCG1

21q22.3
AB038161

2.7 kB

638 AA

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Online Mendelian Inheritance in Man NM 004915

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Mouse
PubMed:12466851,11909955,11217851,11162488,11076861,11042159,10708515,10349636,9034316,8703120RefSeq Nucleotide:NM_009593GenBank Nucleotide:AF323659,AK037241,U34920,Z48745,noneProtein:AAB47738,AAK27442,CAA88636,NP_033723,Q64343Homologene dataUniGene:Mm.15691Variation data
Rat
RefSeq Nucleotide:NM_053502GenBank Nucleotide:AJ303374Protein:CAC21556,NP_445954Homologene dataUniGene:Rn.8398
Brain
Spleen
Lung

PubMed
ABCG1 is involved in macrophage cholesterol efflux and may regulate cellular lipid homeostasis in other cell types.

LXRa, PPARg

ZNF202 (repressor)
SHP (repressor by binding to LXR)
2 ABCG2
BCRP1
MXR1
ABCP

ABCG2
4q22

2.4 kB

655 AA

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Online Mendelian Inheritance in Man NM 004827

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Mouse
PubMed:12649196,12466851,12218177,10708515,10485464,9850061RefSeq Nucleotide:NM_011920GenBank Nucleotide:AF103875,AF140218Protein:AAD09189,AAD54216,NP_036050Homologene dataUniGene:Mm.196728Variation data
Rat
RefSeq Nucleotide:NM_181381,XM_231835GenBank Nucleotide:AY089996,AY089997,AY089998Protein:AAM09106,AAM09107,AAM09108,NP_852046,XP_231835Homologene dataUniGene:Rn.13131
Placenta
Breast
Liver
Intestine
apical membranes

PubMed
This protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Recently it has been shown to transport organic anions but also steroids (cholesterol, estradiol, progesterone, testosterone) and
certain chlorophyll metabolites.

 
3 ABCG3?

ABCG3?
no human gene?

8p12

?

   

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Mouse
PubMed:12466851,11217851,11178751,11076861,11042159,10349636RefSeq Nucleotide:NM_030239GenBank Nucleotide:AF324242,AK030831,AK037614,AK051880Protein:AAK14241,BAC34799,NP_084515UniGene:Mm.100671Variation data
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

ABCG4

11q23.3

3.5 kB

627 AA

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Online Mendelian Inheritance in Man NM 022169

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Mouse
PubMed:12477932,12466851,11856881,11217851,11076861,11042159,10349636RefSeq Nucleotide:NM_138955GenBank Nucleotide:AF378330,AF411084,AF425077,AJ426047,AK018283,AK043147,AY040865,BC016200,BC023077,BC026477Protein:AAH16200,AAH23077,AAH26477,AAK91781,AAL57369,AAN03012,AAO13805,BAB31147,BAC31475,CAD19779,NP_620405Homologene dataUniGene:Mm.101876Variation data
Rat
Macrophage
Brain
Eye
Spleen
PubMed
LXRa
5 ABCG5
White 3
Sterolin1

ABCG5

2p21

2.3 kB

651 AA

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Online Mendelian Inheritance in Man
Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with
Sitosterolemia.
NM 022436
NP071881

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Mouse
PubMed:12601003,12466851,12444248,12208867,12208859,11907139,11901146,11138003RefSeq Nucleotide:NM_031884GenBank Nucleotide:AF312713Protein:AAG53097,NP_114090Homologene dataUniGene:Mm.34004Variation data
Rat
PubMed:11138003RefSeq Nucleotide:NM_053754GenBank Nucleotide:AF312714Protein:AAG53098,NP_446206Homologene dataUniGene:Rn.74258

 

Liver
Small Intestine

Apical

PubMed
ABCG5 functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8.

LXRa
6 ABCG8
White 4
Sterolin2

ABCG8

2p21

2  kB

673 AA

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Online Mendelian Inheritance in Man
Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with Sitosterolemia.
NM 022437
NP071882

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Mouse
PubMed:12601003,12466851,12444248,12208867,12208859,11907139,11901146,11452359,11217851,11076861,11042159,10349636RefSeq Nucleotide:NM_026180GenBank Nucleotide:AF351811,AF324495,AK004871,AK008188,AK050938Protein:AAK84079,AAL82898,BAB23630,NP_080456Homologene dataUniGene:Mm.26581
Rat

 

Liver
Small Intestine

Apical

PubMed
ABCG8 functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5.

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