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?)

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with symbols according to the nomenclature for human ABC-transporter genes
( with links to M. Deans Book and "Nice"Swiss-Prot and other updates)
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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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 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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 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
 

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 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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NCBI Bookshelf		   NM018672
 

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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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NCBI Bookshelf		   NM080284
 

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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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NCBI Bookshelf		 Online Mendelian Inheritance in Man NM019112
 

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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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NCBI Bookshelf		   NM007168
 

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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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NCBI Bookshelf		   NM080283
 

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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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 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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NCBI Bookshelf		 Online Mendelian Inheritance in Man NM015657

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 		 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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 		 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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NCBI Bookshelf		 Online Mendelian Inheritance in Man NM000927
 

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

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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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