Property Summary

NCBI Gene PubMed Count 620
Grant Count 570
R01 Count 305
Funding $83,998,869.08
PubMed Score 1383.17
PubTator Score 1223.21

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (59)

Disease Z-score Confidence
Atherosclerosis 275 6.465 3.2
Lipid metabolism disorder 102 5.993 3.0
Coronary artery disease 240 4.558 2.3
Alzheimer's disease 644 4.169 2.1
diabetes mellitus 1,663 3.958 2.0
Metabolic syndrome X 155 3.422 1.7
Obesity 616 3.372 1.7
Age related macular degeneration 84 3.367 1.7
Allergic rhinitis (disorder) 12
Apolipoprotein A-I deficiency 2
Carcinoma 2,147 1.0
Cardiovascular system disease 194 2.0
Colorectal Neoplasms 217
Down syndrome 548
Familial HDL deficiency 1
Hypercholesterolemia 27
Hypercholesterolemia, Familial 16
Hyperlipidemia 25
Hyperlipoproteinemia Type IIa 7
Hypoalphalipoproteinemia, Familial 2
Hypoalphalipoproteinemias 2
IGA Glomerulonephritis 454
Kidney Failure, Chronic 45
Peripheral Neuropathy 303
Pick disease 1,893
Tangier disease 8 5.0
Type 2 diabetes mellitus 189 1.0
Vascular disease 281 1.0
active ulcerative colitis 477
acute quadriplegic myopathy 1,157
adrenocortical carcinoma 1,427
astrocytoma 1,493
atypical teratoid / rhabdoid tumor 4,369
autosomal dominant Emery-Dreifuss muscul... 499 
colon cancer 1,475
cystic fibrosis 1,665
dermatomyositis 933
ductal carcinoma in situ 1,745
ependymoma 2,514
facioscapulohumeral dystrophy 286
glioblastoma 5,572
group 3 medulloblastoma 2,254
invasive ductal carcinoma 2,950
juvenile dermatomyositis 1,189
lung cancer 4,466
lung carcinoma 2,844
malignant mesothelioma 3,162
oligodendroglioma 2,849
osteosarcoma 7,933
ovarian cancer 8,484
pancreatic ductal adenocarcinoma liver m... 1,795 
pediatric high grade glioma 2,712
pilocytic astrocytoma 3,086
primary Sjogren syndrome 789
progressive supranuclear palsy 674
pterygium 74
sarcoidosis 358
subependymal giant cell astrocytoma 2,287
tuberculosis 1,557

Expression

  Differential Expression (34)

Disease log2 FC p
malignant mesothelioma -6.900 0.000
astrocytoma 2.400 0.003
ependymoma 2.500 0.047
oligodendroglioma 1.700 0.046
glioblastoma 2.900 0.000
osteosarcoma 1.872 0.000
atypical teratoid / rhabdoid tumor 2.200 0.000
autosomal dominant Emery-Dreifuss muscul... 1.216 0.003
juvenile dermatomyositis 1.147 0.000
acute quadriplegic myopathy 1.868 0.000
adrenocortical carcinoma -1.955 0.001
tuberculosis -2.900 0.000
pancreatic ductal adenocarcinoma liver m... -2.516 0.001
lung cancer -1.600 0.000
colon cancer -1.600 0.013
active ulcerative colitis -1.879 0.021
sarcoidosis 1.300 0.013
diabetes mellitus -1.200 0.012
cystic fibrosis 1.100 0.001
pediatric high grade glioma 2.300 0.000
group 3 medulloblastoma 1.300 0.035
pilocytic astrocytoma 2.100 0.000
primary Sjogren syndrome 1.200 0.004
subependymal giant cell astrocytoma 3.536 0.006
lung carcinoma -2.100 0.000
Pick disease 1.200 0.014
progressive supranuclear palsy -1.200 0.035
pterygium 1.100 0.013
ductal carcinoma in situ -1.200 0.005
invasive ductal carcinoma -1.400 0.004
ovarian cancer 1.300 0.002
Down syndrome 1.700 0.000
dermatomyositis 1.100 0.000
facioscapulohumeral dystrophy -1.400 0.045

Synonym

Accession O95477 Q5VX33 Q96S56 Q96T85 Q9NQV4 Q9UN06 Q9UN07 Q9UN08 Q9UN09
Symbols TGD
ABC1
CERP
ABC-1
HDLDT1

Gene

Gene RIF (611)

PMID Text
27239842 This review focuses on the role of ABC transporters A1 and G1 in the pathogenesis of atherosclerosis
26891315 The present study shows that there is no significant difference in the genotypic and allelic frequencies of ABCA1 rs2230806, rs3890182 and rs1800976 polymorphisms between a normal weight group and an overweight/obese group.
26828509 ABCA1 gene polymorphisms may be associated with low HDL-C disease; the low HDL-C disease might partly result from interactions between ABCA1 gene polymorphisms and obesity.
26791180 Data suggest that SNPs in ABCA1 alleles and promoter region are associated with variations in (1) DNA methylation, (2) expression of ABCA1, and (3) plasma HDL cholesterol/EPA (eicosapentaenoic acid) levels. [META-ANALYSIS]
26776055 Eicosapentaenoic acid membrane incorporation impairs ABCA1-dependent cholesterol efflux via a protein kinase A signaling pathway in primary human macrophages.
26774504 this study aimed to investigate the relationship between ABCA1 polymorphism and apoA-I and HDL-C in an attempt to elucidate its correlation with abdominal aortic aneurysm occurrence.
26772887 Our study demonstrates that CSE/H2S system is regulated by miR-216a, and regulates ABCA1-mediated cholesterol efflux and cholesterol levels through the PI3K/AKT pathway.
26722555 Our results suggest that ABCA1 polymorphisms influence plasma lipid variability and coronary heart disease risk
26718613 miR-28-5p participates in atherosclerosis via ERK2-mediated upregulation of the ABCA1 pathway.
26681752 Niacin increases HDL particles and total cholesterol efflux capacity but not ABCA1-specific cholesterol efflux in statin-treated subjects.
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AA Sequence

MACWPQLRLLLWKNLTFRRRQTCQLLLEVAWPLFIFLILISVRLSYPPYEQHECHFPNKAMPSAGTLPWV      1 - 70
QGIICNANNPCFRYPTPGEAPGVVGNFNKSIVARLFSDARRLLLYSQKDTSMKDMRKVLRTLQQIKKSSS     71 - 140
NLKLQDFLVDNETFSGFLYHNLSLPKSTVDKMLRADVILHKVFLQGYQLHLTSLCNGSKSEEMIQLGDQE    141 - 210
VSELCGLPREKLAAAERVLRSNMDILKPILRTLNSTSPFPSKELAEATKTLLHSLGTLAQELFSMRSWSD    211 - 280
MRQEVMFLTNVNSSSSSTQIYQAVSRIVCGHPEGGGLKIKSLNWYEDNNYKALFGGNGTEEDAETFYDNS    281 - 350
TTPYCNDLMKNLESSPLSRIIWKALKPLLVGKILYTPDTPATRQVMAEVNKTFQELAVFHDLEGMWEELS    351 - 420
PKIWTFMENSQEMDLVRMLLDSRDNDHFWEQQLDGLDWTAQDIVAFLAKHPEDVQSSNGSVYTWREAFNE    421 - 490
TNQAIRTISRFMECVNLNKLEPIATEVWLINKSMELLDERKFWAGIVFTGITPGSIELPHHVKYKIRMDI    491 - 560
DNVERTNKIKDGYWDPGPRADPFEDMRYVWGGFAYLQDVVEQAIIRVLTGTEKKTGVYMQQMPYPCYVDD    561 - 630
IFLRVMSRSMPLFMTLAWIYSVAVIIKGIVYEKEARLKETMRIMGLDNSILWFSWFISSLIPLLVSAGLL    631 - 700
VVILKLGNLLPYSDPSVVFVFLSVFAVVTILQCFLISTLFSRANLAAACGGIIYFTLYLPYVLCVAWQDY    701 - 770
VGFTLKIFASLLSPVAFGFGCEYFALFEEQGIGVQWDNLFESPVEEDGFNLTTSVSMMLFDTFLYGVMTW    771 - 840
YIEAVFPGQYGIPRPWYFPCTKSYWFGEESDEKSHPGSNQKRISEICMEEEPTHLKLGVSIQNLVKVYRD    841 - 910
GMKVAVDGLALNFYEGQITSFLGHNGAGKTTTMSILTGLFPPTSGTAYILGKDIRSEMSTIRQNLGVCPQ    911 - 980
HNVLFDMLTVEEHIWFYARLKGLSEKHVKAEMEQMALDVGLPSSKLKSKTSQLSGGMQRKLSVALAFVGG    981 - 1050
SKVVILDEPTAGVDPYSRRGIWELLLKYRQGRTIILSTHHMDEADVLGDRIAIISHGKLCCVGSSLFLKN   1051 - 1120
QLGTGYYLTLVKKDVESSLSSCRNSSSTVSYLKKEDSVSQSSSDAGLGSDHESDTLTIDVSAISNLIRKH   1121 - 1190
VSEARLVEDIGHELTYVLPYEAAKEGAFVELFHEIDDRLSDLGISSYGISETTLEEIFLKVAEESGVDAE   1191 - 1260
TSDGTLPARRNRRAFGDKQSCLRPFTEDDAADPNDSDIDPESRETDLLSGMDGKGSYQVKGWKLTQQQFV   1261 - 1330
ALLWKRLLIARRSRKGFFAQIVLPAVFVCIALVFSLIVPPFGKYPSLELQPWMYNEQYTFVSNDAPEDTG   1331 - 1400
TLELLNALTKDPGFGTRCMEGNPIPDTPCQAGEEEWTTAPVPQTIMDLFQNGNWTMQNPSPACQCSSDKI   1401 - 1470
KKMLPVCPPGAGGLPPPQRKQNTADILQDLTGRNISDYLVKTYVQIIAKSLKNKIWVNEFRYGGFSLGVS   1471 - 1540
NTQALPPSQEVNDAIKQMKKHLKLAKDSSADRFLNSLGRFMTGLDTKNNVKVWFNNKGWHAISSFLNVIN   1541 - 1610
NAILRANLQKGENPSHYGITAFNHPLNLTKQQLSEVALMTTSVDVLVSICVIFAMSFVPASFVVFLIQER   1611 - 1680
VSKAKHLQFISGVKPVIYWLSNFVWDMCNYVVPATLVIIIFICFQQKSYVSSTNLPVLALLLLLYGWSIT   1681 - 1750
PLMYPASFVFKIPSTAYVVLTSVNLFIGINGSVATFVLELFTDNKLNNINDILKSVFLIFPHFCLGRGLI   1751 - 1820
DMVKNQAMADALERFGENRFVSPLSWDLVGRNLFAMAVEGVVFFLITVLIQYRFFIRPRPVNAKLSPLND   1821 - 1890
EDEDVRRERQRILDGGGQNDILEIKELTKIYRRKRKPAVDRICVGIPPGECFGLLGVNGAGKSSTFKMLT   1891 - 1960
GDTTVTRGDAFLNKNSILSNIHEVHQNMGYCPQFDAITELLTGREHVEFFALLRGVPEKEVGKVGEWAIR   1961 - 2030
KLGLVKYGEKYAGNYSGGNKRKLSTAMALIGGPPVVFLDEPTTGMDPKARRFLWNCALSVVKEGRSVVLT   2031 - 2100
SHSMEECEALCTRMAIMVNGRFRCLGSVQHLKNRFGDGYTIVVRIAGSNPDLKPVQDFFGLAFPGSVLKE   2101 - 2170
KHRNMLQYQLPSSLSSLARIFSILSQSKKRLHIEDYSVSQTTLDQVFVNFAKDQSDDDHLKDLSLHKNQT   2171 - 2240
VVDVAVLTSFLQDEKVKESYV                                                    2241 - 2261
//

Text Mined References (629)

PMID Year Title
27239842 [Role of the ABC transporters A1 and G1, key reverse cholesterol transport proteins, in atherosclerosis].
26891315 2016 Association between Polymorphisms and Haplotype in the ABCA1 Gene and Overweight/Obesity Patients in the Uyghur Population of China.
26828509 2016 Interactions of Six SNPs in ABCA1gene and Obesity in Low HDL-C Disease in Kazakh of China.
26791180 2016 Interaction of methylation-related genetic variants with circulating fatty acids on plasma lipids: a meta-analysis of 7 studies and methylation analysis of 3 studies in the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium.
26776055 2016 Eicosapentaenoic acid membrane incorporation impairs ABCA1-dependent cholesterol efflux via a protein kinase A signaling pathway in primary human macrophages.
26774504 2016 Correlation Between ABCA1 Gene Polymorphism and aopA-I and HDL-C in Abdominal Aortic Aneurysm.
26772887 2016 Cystathionine ?-lyase(CSE)/hydrogen sulfide system is regulated by miR-216a and influences cholesterol efflux in macrophages via the PI3K/AKT/ABCA1 pathway.
26722555 2015 Association of ATP-binding cassette transporter A1 gene polymorphisms with plasma lipid variability and coronary heart disease risk.
26718613 2016 MicroRNA 28-5p regulates ATP-binding cassette transporter A1 via inhibiting extracellular signal-regulated kinase 2.
26681752 2016 Niacin Therapy Increases High-Density Lipoprotein Particles and Total Cholesterol Efflux Capacity But Not ABCA1-Specific Cholesterol Efflux in Statin-Treated Subjects.
More...