Property Summary

NCBI Gene PubMed Count 97
Grant Count 49
R01 Count 34
Funding $7,152,486.45
PubMed Score 163.62
PubTator Score 110.20

Knowledge Summary

Patent

No data available

Expression

Gene RIF (94)

PMID Text
27144356 crystallization in lipid bilayers to determine the X-ray structure of human G5G8 in a nucleotide-free state at 3.9 A resolution, generating the first atomic model of an ABC sterol transporter
26892138 first case of a Mexican family with sitosterolemia carrying two new ABCG5 gene mutations
26088706 Genetic polymorphism within the ABCG5 gene is a risk factor for diabetes.
24811295 Sitosterolemia is caused by a genetic defect of sterolins (ABCG5/ABCG8) mapped to the STSL locus. Polymorphic variations in STSL have been linked to lipid levels and gallstone disease
24691589 ABCG5/8 variants are associated with susceptibility to coronary heart disease.
24657701 MI and gallstones, 2 seemingly unrelated diseases, are intrinsically linked via the function of the ABCG5/8 cholesterol transporter.
24623560 A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis.
24584735 HRD1 and RMA1 may therefore be negative regulators of disease-associated transporter ABCG5/ABCG8.
24498041 No association of T400K and Y54C polymorphism with hepatic ABCG8/G5 mRNA expression.
24252657 ATP-binding cassette (ABC) transporters G5 (ABCG5) and G8 (ABCG8) form an obligate heterodimer that limits intestinal absorption and facilitates biliary secretion of cholesterol and phytosterols.
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AA Sequence

MGDLSSLTPGGSMGLQVNRGSQSSLEGAPATAPEPHSLGILHASYSVSHRVRPWWDITSCRQQWTRQILK      1 - 70
DVSLYVESGQIMCILGSSGSGKTTLLDAMSGRLGRAGTFLGEVYVNGRALRREQFQDCFSYVLQSDTLLS     71 - 140
SLTVRETLHYTALLAIRRGNPGSFQKKVEAVMAELSLSHVADRLIGNYSLGGISTGERRRVSIAAQLLQD    141 - 210
PKVMLFDEPTTGLDCMTANQIVVLLVELARRNRIVVLTIHQPRSELFQLFDKIAILSFGELIFCGTPAEM    211 - 280
LDFFNDCGYPCPEHSNPFDFYMDLTSVDTQSKEREIETSKRVQMIESAYKKSAICHKTLKNIERMKHLKT    281 - 350
LPMVPFKTKDSPGVFSKLGVLLRRVTRNLVRNKLAVITRLLQNLIMGLFLLFFVLRVRSNVLKGAIQDRV    351 - 420
GLLYQFVGATPYTGMLNAVNLFPVLRAVSDQESQDGLYQKWQMMLAYALHVLPFSVVATMIFSSVCYWTL    421 - 490
GLHPEVARFGYFSAALLAPHLIGEFLTLVLLGIVQNPNIVNSVVALLSIAGVLVGSGFLRNIQEMPIPFK    491 - 560
IISYFTFQKYCSEILVVNEFYGLNFTCGSSNVSVTTNPMCAFTQGIQFIEKTCPGATSRFTMNFLILYSF    561 - 630
IPALVILGIVVFKIRDHLISR                                                     631 - 651
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Text Mined References (98)

PMID Year Title
27144356 2016 Crystal structure of the human sterol transporter ABCG5/ABCG8.
26892138 Two novel mutations in the ABCG5 gene, c.144 -1G>A and c.1523 delC, in a Mexican family with sitosterolemia.
26088706 2015 ABCG5 and ABCG8 gene polymorphisms in type 2 diabetes mellitus in the Turkish population.
24811295 2014 Recent advances in understanding the STSL locus and ABCG5/ABCG8 biology.
24691589 2014 ABCG5/8 variants are associated with susceptibility to coronary heart disease.
24657701 2014 The ABCG5/8 cholesterol transporter and myocardial infarction versus gallstone disease.
24623560 2014 A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis.
24584735 2014 Inhibition of post-translational N-glycosylation by HRD1 that controls the fate of ABCG5/8 transporter.
24498041 2014 Association of three common single nucleotide polymorphisms of ATP binding cassette G8 gene with gallstone disease: a meta-analysis.
24252657 2014 ABCG5/ABCG8 in cholesterol excretion and atherosclerosis.
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