• Gene id: 19

Gene Summary

• Gene Symbol: ABCA1   Gene   UCSC   Ensembl
• Aliases: ABC-1, ABC1, CERP, HDLCQTL13, HDLDT1, HPALP1, TGD
• Gene name: ATP binding cassette subfamily A member 1
• Alternate names: phospholipid-transporting ATPase ABCA1, ATP-binding cassette sub-family A member 1, ATP-binding cassette transporter A1, ATP-binding cassette, sub-family A (ABC1), member 1, cholesterol efflux regulatory protein, membrane-bound,
• Gene location: 9q31.1 (104928231: 104781005)     Exons: 58     NC_000009.12
• Gene summary(Entrez): The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct s
• OMIM: 600046

SNPs

rs587777031

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000010.11   g.119030032_119030034CTC[1]
NC_000010.11   g.119030032_119030034CTC[3]
NC_000010.11   g.119030032_119030034CTC[5]
NC_000010.10   g.120789544_120789546CTC[1]
NC_000010.10   g.120789544_120789546CTC[3]
NC_000010.10   g.120789544_120789546CTC[5]
NG_0  

rs397515563

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.34517468G>A
NC_000009.11   g.34517466G>A
NG_008127.1   g.63656G>A|SEQ=[G/A]|GENE=DNAI1

rs397515363

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000009.12   g.34459055dup
NC_000009.11   g.34459053dup
NG_008127.1   g.5243dup
NG_027971.1   g.4516dup|SEQ=[T/TT]|GENE=DNAI1
FAM219A   203259

rs397515358

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.74286974T>G
NC_000017.10   g.72283113T>G
NG_016865.1   g.17728T>G|SEQ=[T/G]|GENE=DNAI2

rs397514561

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.780097T>C
NC_000007.13   g.819734T>C
NG_033137.1   g.58397T>C
NM_017802.4   c.2384T>C
NM_017802.3   c.2384T>C
NR_075098.1   n.2342T>C
XM_024446814.1   c.1778T>C
NP_060272.3   p.Leu795Pro
XP_024302582.1   p.Leu593Pro|SEQ=[T/C]|GENE=DNAAF5

rs376252276

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.34513112G>A
NC_000009.12   g.34513112G>C
NC_000009.12   g.34513112G>T
NC_000009.11   g.34513110G>A
NC_000009.11   g.34513110G>C
NC_000009.11   g.34513110G>T
NG_008127.1   g.59300G>A
NG_008127.1   g.59300G>C
NG_008127.1   g.59300G>T
NM_012144.4   c.1490G

rs62180545

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.216859821A>G
NC_000002.11   g.217724544A>G|SEQ=[A/G]|GENE=TNP1
LOC101928278   101928278

rs35576928

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281137C>A
NC_000016.10   g.11281137C>G
NC_000016.9   g.11374994C>A
NC_000016.9   g.11374994C>G
NM_002761.3   c.102G>T
NM_002761.3   c.102G>C
NM_002761.2   c.102G>T
NM_002761.2   c.102G>C
NP_002752.1   p.Arg34Ser
NP_002752.1   p.Arg34Ser|SEQ=[C/A/G]|GE

rs35262993

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281185C>T
NC_000016.9   g.11375042C>T
NM_002761.3   c.54G>A
NM_002761.2   c.54G>A|SEQ=[C/T]|GENE=PRM1
LOC105371082   105371082

rs16891278

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.42401679A>G
NC_000008.11   g.42401679A>T
NC_000008.10   g.42259197A>G
NC_000008.10   g.42259197A>T|SEQ=[A/G/T]|GENE=VDAC3

rs10250822

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17293365C>A
NC_000007.14   g.17293365C>G
NC_000007.14   g.17293365C>T
NC_000007.13   g.17332989C>A
NC_000007.13   g.17332989C>G
NC_000007.13   g.17332989C>T|SEQ=[C/A/G/T]|GENE=LOC101927609

rs10247158

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17285544A>T
NC_000007.13   g.17325168A>T|SEQ=[A/T]|GENE=LOC101927609

rs7811989

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17331739A>C
NC_000007.14   g.17331739A>G
NC_000007.14   g.17331739A>T
NC_000007.13   g.17371363A>C
NC_000007.13   g.17371363A>G
NC_000007.13   g.17371363A>T|SEQ=[A/C/G/T]|GENE=AHR

rs7558708

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.73291739G>A
NC_000002.11   g.73518867G>A
NM_001965.4   c.1179C>T
NM_001965.3   c.1488C>T|SEQ=[G/A]|GENE=EGR4

rs7004637

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.42392929A>G
NC_000008.10   g.42250447A>G|SEQ=[A/G]|GENE=VDAC3
DKK4   27121

rs6960165

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17328461G>A
NC_000007.14   g.17328461G>C
NC_000007.14   g.17328461G>T
NC_000007.13   g.17368085G>A
NC_000007.13   g.17368085G>C
NC_000007.13   g.17368085G>T|SEQ=[G/A/C/T]|GENE=AHR

rs6124715

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.45548848C>G
NC_000020.11   g.45548848C>T
NC_000020.10   g.44177487C>G
NC_000020.10   g.44177487C>T|SEQ=[C/G/T]|GENE=EPPIN
EPPIN-WFDC6   100526773

rs2301365

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281429G>T
NC_000016.9   g.11375286G>T|SEQ=[G/T]|GENE=PRM1
LOC105371082   105371082

rs2282885

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17305990A>G
NC_000007.13   g.17345614A>G|SEQ=[A/G]|GENE=AHR

rs2229294

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.73291405G>A
NC_000002.11   g.73518533G>A
NM_001965.4   c.*52C>T
NM_001965.3   c.*52C>T|SEQ=[G/A]|GENE=EGR4

rs2227290

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.45547503G>C
NC_000020.11   g.45547503G>T
NC_000020.10   g.44176142G>C
NC_000020.10   g.44176142G>T|SEQ=[G/C/T]|GENE=EPPIN
EPPIN-WFDC6   100526773

rs2066853

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17339486G>A
NC_000007.13   g.17379110G>A
NM_001621.5   c.1661G>A
NM_001621.4   c.1661G>A
NP_001612.1   p.Arg554Lys|SEQ=[G/A]|GENE=AHR

rs1129332

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.2404771C>T
NC_000001.10   g.2336210C>T
NG_016128.1   g.17997C>T
NM_007033.5   c.*1647C>T
NM_007033.4   c.*1647C>T
NG_008342.1   g.12801G>A
NM_002617.4   c.*995G>A
NM_153818.2   c.*995G>A
NM_001374426.1   c.*995G>A
NM_001374427.1   c.*995G>A
NM_001374425  

rs937283

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.68808384A>G
NC_000012.11   g.69202164A>G
NG_016708.1   g.5194A>G
NM_002392.5   c.-94A>G
NM_001145339.2   c.-94A>G
XM_006719400.4   c.-281A>G|SEQ=[A/G]|GENE=MDM2

rs737008

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281009G>A
NC_000016.10   g.11281009G>T
NC_000016.9   g.11374866G>A
NC_000016.9   g.11374866G>T
NM_002761.3   c.139C>T
NM_002761.3   c.139C>A
NM_002761.2   c.139C>T
NM_002761.2   c.139C>A
NP_002752.1   p.Arg47Ter|SEQ=[G/A/T]|GENE=PRM1
LOC1053710  

rs12348

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.25677217T>C
NC_000009.12   g.25677217T>G
NC_000009.11   g.25677215T>C
NC_000009.11   g.25677215T>G
NG_012031.1   g.6642A>G
NG_012031.1   g.6642A>C
NM_001004125.2   c.*466A>G
NM_001004125.2   c.*466A>C|SEQ=[T/C/G]|GENE=TUSC1

rs6773

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.42405639T>C
NC_000008.10   g.42263157T>C
NM_005662.7   c.*177T>C
NM_005662.6   c.*177T>C
NM_001135694.2   c.*177T>C
XM_006716394.1   c.*177T>C|SEQ=[T/C]|GENE=VDAC3

rs16937456

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.71165720A>G
NC_000008.11   g.71165720A>T
NC_000008.10   g.72077955A>G
NC_000008.10   g.72077955A>T|SEQ=[A/G/T]|GENE=LOC105375894

rs10762738

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.76935709A>G
NC_000010.10   g.78695467A>G
NG_012270.1   g.707111T>C|SEQ=[A/G]|GENE=KCNMA1
KCNMA1-AS1   101929328

rs36065902

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.41841870A>T
NW_003571052.1   g.128512A>T
NG_051246.1   g.11186A>T
NM_152467.5   c.242A>T
NM_152467.4   c.242A>T
NM_152467.3   c.242A>T
NM_001329596.2   c.-23A>T
NM_001329596.1   c.-23A>T
NM_001329595.1   c.242A>T
NC_000017.10   g.39998122A>T
NP_689680.2  

rs61752339

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.41845328T>C
NW_003571052.1   g.131970T>C
NG_051246.1   g.14644T>C
NM_152467.5   c.887T>C
NM_152467.4   c.887T>C
NM_152467.3   c.887T>C
NM_001329596.2   c.623T>C
NM_001329596.1   c.623T>C
NM_001329595.1   c.887T>C
NC_000017.10   g.40001580T>C
NP_689680.2  

rs79170274

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.119030036T>A
NC_000010.11   g.119030036T>C
NC_000010.10   g.120789548T>A
NC_000010.10   g.120789548T>C
NG_050764.1   g.5321T>A
NG_050764.1   g.5321T>C
NM_199461.4   c.235T>A
NM_199461.4   c.235T>C
NM_199461.3   c.235T>A
NM_199461.3   c.235T>C
NM_199461.  

rs10249788

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17298523C>G
NC_000007.14   g.17298523C>T
NC_000007.13   g.17338147C>G
NC_000007.13   g.17338147C>T
XR_927073.2   n.16G>C
XR_927073.2   n.16G>A|SEQ=[C/G/T]|GENE=AHR
LOC101927609   101927609

rs3757824

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17296411T>C
NC_000007.14   g.17296411T>G
NC_000007.13   g.17336035T>C
NC_000007.13   g.17336035T>G|SEQ=[T/C/G]|GENE=LOC101927609

rs498422

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.32318984T>G
NC_000006.11   g.32286761T>G
NT_113891.3   g.3757457T>G
NT_113891.2   g.3757563T>G
NT_167248.2   g.3542362G>T
NT_167248.1   g.3547958G>T
NT_167245.2   g.3560446T>G
NT_167245.1   g.3566031T>G
NT_167249.2   g.3635248T>G
NT_167249.1   g.3634546

rs4938723

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.111511840T>C
NC_000011.9   g.111382565T>C|SEQ=[T/C]|GENE=BTG4
MIR34B   407041
MIR34C   407042
LOC728196   728196

rs3212293

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000024.10   g.13479612C>G
NC_000024.10   g.13479612C>T
NC_000024.9   g.15591492C>G
NC_000024.9   g.15591492C>T
NM_007125.4   c.54G>C
NM_007125.4   c.54G>A
XM_006724875.4   c.54G>C
XM_006724875.4   c.54G>A
XM_005262518.4   c.54G>C
XM_005262518.4   c.54G>A
XM_005262518  

rs5335

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.147542688G>A
NC_000004.12   g.147542688G>C
NC_000004.11   g.148463840G>A
NC_000004.11   g.148463840G>C
NG_013343.1   g.66772G>A
NG_013343.1   g.66772G>C
NM_001957.4   c.*70G>A
NM_001957.4   c.*70G>C
NM_001957.3   c.*70G>A
NM_001957.3   c.*70G>C
NR_04595  

rs1801708

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.147481217G>A
NC_000004.12   g.147481217G>C
NC_000004.11   g.148402369G>A
NC_000004.11   g.148402369G>C
NG_013343.1   g.5301G>A
NG_013343.1   g.5301G>C
NM_001957.4   c.-230G>A
NM_001957.4   c.-230G>C
NM_001957.3   c.-230G>A
NM_001957.3   c.-230G>C
NR_045  

rs1476080

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17318249T>A
NC_000007.14   g.17318249T>G
NC_000007.13   g.17357873T>A
NC_000007.13   g.17357873T>G|SEQ=[T/A/G]|GENE=AHR

rs10506398

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.59717545A>C
NC_000012.12   g.59717545A>G
NC_000012.11   g.60111326A>C
NC_000012.11   g.60111326A>G|SEQ=[A/C/G]|GENE=SLC16A7

rs10506399

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.59780712G>A
NC_000012.12   g.59780712G>C
NC_000012.11   g.60174493G>A
NC_000012.11   g.60174493G>C
NM_004731.4   c.*1033G>A
NM_004731.4   c.*1033G>C
NM_004731.5   c.*1033G>A
NM_004731.5   c.*1033G>C
XM_005269231.4   c.*1033G>A
XM_005269231.4   c.*1033G>

rs6836703

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.76108994G>A
NC_000004.11   g.77030147G>A|SEQ=[G/A]|GENE=ART3

rs771189047

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000002.12   g.73293568dup
NC_000002.11   g.73520696dup|SEQ=[-/C]|GENE=EGR4

rs561568849

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.73293413G>A
NC_000002.12   g.73293413G>T
NC_000002.11   g.73520541G>A
NC_000002.11   g.73520541G>T
NM_001965.4   c.-96C>T
NM_001965.4   c.-96C>A
NM_001965.3   c.214C>T
NM_001965.3   c.214C>A|SEQ=[G/A/T]|GENE=EGR4

rs763487015

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.73293391G>A
NC_000002.11   g.73520519G>A
NM_001965.4   c.-74C>T
NM_001965.3   c.236C>T|SEQ=[G/A]|GENE=EGR4

rs546250227

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.73291933C>A
NC_000002.11   g.73519061C>A
NM_001965.4   c.985G>T
NM_001965.3   c.1294G>T
NP_001956.4   p.Val329Leu|SEQ=[C/A]|GENE=EGR4

rs115948271

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.73292360G>C
NC_000002.11   g.73519488G>C
NM_001965.4   c.558C>G
NM_001965.3   c.867C>G|SEQ=[G/C]|GENE=EGR4

rs528939702

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.73291997C>T
NC_000002.11   g.73519125C>T
NM_001965.4   c.921G>A
NM_001965.3   c.1230G>A|SEQ=[C/T]|GENE=EGR4

Protein Summary

Gene ontology

GO accession	Term name	Evidence code	Go category

KEGG pathways

Pathway id	Pathway name
hsa04975	Fat digestion and absorption
hsa04979	Cholesterol metabolism

Diseases

Associated diseases	References
Cancer	GAD: 18676680
Coronary heart disease	GAD: 11975906
Atherosclerosis	GAD: 11975906
Myocardial Ischemia	GAD: 11975906
Hypoalphalipoproteinemia	KEGG: H00930
Macular degeneration	GAD: 15829498
Diabetes	GAD: 15721294
Hypercholesterolemia	GAD: 16030523
Hypercholesterolemia	GAD: 15135251
Metabolic syndrome	GAD: 19056482
Dyslipidemias	GAD: 19341173
Alzheimer's disease	GAD: 16157450
Schizophrenia	GAD: 19721717
Dementia	GAD: 19606474
Chronic kidney failure	GAD: 19578796
Polycystic ovary syndrome (PCOS)	INFBASE: 22035022
Female infertility	INFBASE: 22035022
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Plays an important role in lipid transport in Sertoli cells and influences male fertility	MIK: 15026428
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
15026428	Plays an important role in lipid transport in Sertoli cells and influences male fertility				Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R