Property Summary

NCBI Gene PubMed Count 97
PubMed Score 163.62
PubTator Score 110.20

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9H222 Q2T9G2 Q96QZ2 Q96QZ3
Symbols STSL

Gene

PDB

5DO7  

  Ortholog (14)

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.
More...