UCSF Pharmacogenetics of Membrane Transporters
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Common Name:ABCA10
HGNC Symbol:ABCA10
HGNC Description:ATP-binding cassette, sub-family A (ABC1), member 10
HGNC ID:30
Chromosome:Chr.17(-): 64655743-64752551
Location:17q24
OMIM:
OMIM Phenotype:None
Accessions:AL832004,AY028900
Nucleotide RefSeq:NM_080282
Protein RefSeq:NP_525021
Entrez:10349
Isoforms:1
Evidence:Substrate In Vivo Evidence: 1. ABCA10 was cloned from human macrophages. Seven SNPs identified in ABCA10 transcripts. High amino acid sequence homology with ABCA6, ABCA8, and ABCA9. ABCA10 is a cholesterol-responsive gene (expression is suppressed by cholesterol import). Suggested role in macrophage lippid homeostasis. Wenzel, JJ et al. Biochem Biophys Res Comm 2003 Jul 11, 306(4):1089-98 PMID 12821155. Tissue Distribution Evidence: 1. RNA dot blot showed highest expression in heart, brain, and GI tract. Wenzel, JJ et al. Biochem Biophys Res Comm 2003 Jul 11, 306(4):1089-98 PMID 12821155.
Tissues:heart, brain, GI tract
Type:protein coding
Sets:0
PharmGKB ID:PA24374
HPRD ID:12400
Substrates:unknown
Trivial Names:EST698739
Transcripts:NM_080282 [Chr.17(-): 64655743-64752551]
View on UCSC Genome Browser or Ensembl Genome Browser
ABCA10 Resequencing
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Study Name:ABCA10 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
Promoter
5502
 64752737-186-19643
ACAGGGCCAAAACTGATAGTCATCC G → A AGTTCTCTCCAAAGAATCCATTTCT
+ 
 
n=
G/G=
G/A=
A/A=
A=
96
48
0
0
0.000
84
42
0
0
0.000
106
53
0
0
0.000
132
65
1
0
0.008
PMT-272
Promoter
5501
 64752628-77-19534
TAGTTAGTTATATAAAATAATAGCT AGTTATATA → - AGTTATATAAGTAATAT
+ 
 
n=
AGTTATATA/AGTTATATA=
AGTTATATA/-=
-/-=
-=
96
48
0
0
0.000
84
39
3
0
0.036
106
53
0
0
0.000
132
66
0
0
0.000
PMT-272
Exon: 5UTR
5500
 6475246389-19369
AATACAGTATGGTATTTTAACAAAC T → C CAGGGCACAATTAGAATGAAGTTTT
+ 
 
n=
T/T=
T/C=
C/C=
C=
96
47
1
0
0.010
84
42
0
0
0.000
106
53
0
0
0.000
132
66
0
0
0.000
PMT-272
Exon: 5UTR
5499
 64752345207-19251
TAGGAAATAAGCTATTTCAGGAAAG A → G AAATAAAAAATCAATGTTAGCAAAT
+ 
 
n=
A/A=
A/G=
G/G=
G=
96
44
4
0
0.042
84
42
0
0
0.000
106
53
0
0
0.000
132
66
0
0
0.000
PMT-272
Exon: 5UTR
5498
 64752290262-19196
CTGATAAGAATAGCTGATATAAAAA T → C TATTCATCTGAGAATAAATTCTTTC
+ 
 
n=
T/T=
T/C=
C/C=
C=
96
47
1
0
0.010
84
42
0
0
0.000
106
53
0
0
0.000
132
66
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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