UCSF Pharmacogenetics of Membrane Transporters
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Common Name:ABC8
HGNC Symbol:ABCG1
HGNC Description:ATP-binding cassette, sub-family G (WHITE), member 1
HGNC ID:73
Chromosome:Chr.21(+): 42492868-42590423
Location:21q22.3
OMIM:603076
OMIM Phenotype:None
Accessions:NM_004915
Nucleotide RefSeq:NM_004915
Protein RefSeq:NP_004906
Entrez:9619
Isoforms:6
Evidence:Substrate In Vitro Evidence: Cholesterol 1. Lipid-loaded macrophages. PNAS. 2000; 97: 817-22. Substrate In Vivo Evidence: Cholesterol 1. ABCG1 adenovirus expression in mice. Ito T. Drug News Perspect. 2003; 16: 490-2. Tissue Distribution Evidence: Lung and Spleen 1. TaqMan RT-PCR. Langmann T. Clinical Chemistry. 2003; 49: 230-8. Macrophages (lipid-loaded) 1. mRNA differential display. JBC. 2000; 275:14700-7.
Tissues:Lung, Spleen, Macrophages
Type:protein coding
Sets:V
PharmGKB ID:PA24408
HPRD ID:04355
Substrates:Cholesterol
Trivial Names:ABC8, WHITE1, MGC34313
Transcripts:NM_004915 [Chr.21(+): 42512336-42590423]
NM_016818 [Chr.21(+): 42512336-42590423]
NM_207174 [Chr.21(+): 42513077-42590423]
NM_207627 [Chr.21(+): 42492868-42590423]
NM_207628 [Chr.21(+): 42492991-42590423]
NM_207629 [Chr.21(+): 42509256-42590423]
NM_207630 [Chr.21(+): 42549263-42590423]
View on UCSC Genome Browser or Ensembl Genome Browser
ABCG1 Resequencing
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Study Name:ABCG1 Resequencing
Experiments:
SNP impact: P - Public  D - Discovered  E - Exclusive  (dbSNP build 130)
SNP array availability: I - found on Illumina Human1M-Duo BeadChip  A - found on Affymetrix Genome-Wide SNP Array 6.0  
FeaturePMT SNP IDdbSNP/ PubMedSNP Array AvailabilityGenomic PositionTranscript PositionCoding PositionNucleotide ChangeStrand, '+' or '-'Amino Acid PositionAmino Acid ChangeStatisticsAA FreqCA FreqAS FreqME FreqSample Set
 
4290
PDE
rs2234715
I42511924-412-518
GGCGGGAAGGGAAGAAGCAGCAGCA A → G GAAAGAAGCCCCCTGGCCCTCACTC
+ 
 
n=
A/A=
A/G=
G/G=
G=
130
64
1
0
0.008
118
46
11
2
0.127
132
49
15
2
0.144
122
49
12
0
0.098
PMT-272
 
4291
PDE
rs72542411
 42512018-318-424
TTGAGGCTTGGAGGCAGTGGATTTC C → T GAGCCTGGGAACCCCGGCGTCTGTC
+ 
 
n=
C/C=
C/T=
T/T=
T=
130
62
3
0
0.023
118
59
0
0
0.000
132
66
0
0
0.000
122
61
0
0
0.000
PMT-272
 
4292
PDE
rs72542412
 42512078-258-364
CGCAGCCTCACCCGTGCTGGCCCAG C → T CCCCGCGAGTTCGGGACCCGGGGTT
+ 
 
n=
C/C=
C/T=
T/T=
T=
130
65
0
0
0.000
118
59
0
0
0.000
132
66
0
0
0.000
122
60
1
0
0.008
PMT-272
Promoter
4293
PDE
rs57137919
 42512087-249-355
ACCCGTGCTGGCCCAGCCCCCGCGA G → A TTCGGGACCCGGGGTTTCCGGGGTG
+ 
 
n=
G/G=
G/A=
A/A=
A=
130
57
3
5
0.100
118
42
11
6
0.195
132
38
10
18
0.348
122
35
17
9
0.287
PMT-272
Promoter
4294
PDE
rs72542413
 42512097-239-345
GCCCAGCCCCCGCGAGTTCGGGACC C → T GGGGTTTCCGGGGTGGCAGGGGGTT
+ 
 
n=
C/C=
C/T=
T/T=
T=
130
65
0
0
0.000
118
59
0
0
0.000
132
66
0
0
0.000
122
60
1
0
0.008
PMT-272
Promoter
4295
PDE
rs72542414
 42512230-106-212
GCAAAACAAGAGCACGCGCACCTGC C → T GGCCCGCCCGCCCCCTTGGTGCCGG
+ 
 
n=
C/C=
C/T=
T/T=
T=
130
65
0
0
0.000
118
59
0
0
0.000
132
65
1
0
0.008
122
61
0
0
0.000
PMT-272
Promoter
4296
PDE
rs72542415
 42512237-99-205
AAGAGCACGCGCACCTGCCGGCCCG C → A CCGCCCCCTTGGTGCCGGCCAATCG
+ 
 
n=
C/C=
C/A=
A/A=
A=
130
64
1
0
0.008
118
51
8
0
0.068
132
66
0
0
0.000
122
57
4
0
0.033
PMT-272
Promoter
4297
PDE
rs72542416
 42512319-17-123
CCAGAGCCGGAGCCGGATCCCAGCC G → C GAGCCCAAGCGCAGCCCGCACCCCG
+ 
 
n=
G/G=
G/C=
C/C=
C=
130
64
1
0
0.008
118
59
0
0
0.000
132
66
0
0
0.000
122
61
0
0
0.000
PMT-272

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.
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