Property Summary

NCBI Gene PubMed Count 105
Grant Count 71
R01 Count 35
Funding $17,000,155.44
PubMed Score 264.04
PubTator Score 127.22

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma 1.009 0.001
pancreatic ductal adenocarcinoma liver m... -1.595 0.001
psoriasis -1.200 0.000

Synonym

Accession Q9H221 Q53QN8
Symbols GBD4
STSL

Gene

PDB

5DO7  

Gene RIF (118)

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
26088706 Genetic polymorphism within the ABCG8 gene is a risk factor for diabetes.
25804128 A polymorphism of the sterol transporter ABCG8 has been associated with the prevalence of end-stage renal disease
25056759 Mutation in ABCG8 is associated with sitosterolaemia.
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.
24584735 HRD1 and RMA1 may therefore be negative regulators of disease-associated transporter ABCG5/ABCG8.
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.
23840693 A single nucleotide polymorphism of ABCG8 is associated with fasting plasma glucose levels in a cross-sectional study but do not predict hyperglycemia or incident type 2 diabetes. [meta-analysis]
More...

AA Sequence

MAGKAAEERGLPKGATPQDTSGLQDRLFSSESDNSLYFTYSGQPNTLEVRDLNYQVDLASQVPWFEQLAQ      1 - 70
FKMPWTSPSCQNSCELGIQNLSFKVRSGQMLAIIGSSGCGRASLLDVITGRGHGGKIKSGQIWINGQPSS     71 - 140
PQLVRKCVAHVRQHNQLLPNLTVRETLAFIAQMRLPRTFSQAQRDKRVEDVIAELRLRQCADTRVGNMYV    141 - 210
RGLSGGERRRVSIGVQLLWNPGILILDEPTSGLDSFTAHNLVKTLSRLAKGNRLVLISLHQPRSDIFRLF    211 - 280
DLVLLMTSGTPIYLGAAQHMVQYFTAIGYPCPRYSNPADFYVDLTSIDRRSREQELATREKAQSLAALFL    281 - 350
EKVRDLDDFLWKAETKDLDEDTCVESSVTPLDTNCLPSPTKMPGAVQQFTTLIRRQISNDFRDLPTLLIH    351 - 420
GAEACLMSMTIGFLYFGHGSIQLSFMDTAALLFMIGALIPFNVILDVISKCYSERAMLYYELEDGLYTTG    421 - 490
PYFFAKILGELPEHCAYIIIYGMPTYWLANLRPGLQPFLLHFLLVWLVVFCCRIMALAAAALLPTFHMAS    491 - 560
FFSNALYNSFYLAGGFMINLSSLWTVPAWISKVSFLRWCFEGLMKIQFSRRTYKMPLGNLTIAVSGDKIL    561 - 630
SVMELDSYPLYAIYLIVIGLSGGFMVLYYVSLRFIKQKPSQDW                               631 - 673
//

Text Mined References (106)

PMID Year Title
27144356 2016 Crystal structure of the human sterol transporter ABCG5/ABCG8.
26088706 2015 ABCG5 and ABCG8 gene polymorphisms in type 2 diabetes mellitus in the Turkish population.
25804128 2015 ABCG8 polymorphisms and renal disease in type 2 diabetic patients.
25056759 2014 Potential effects of NPC1L1 polymorphisms in protecting against clinical disease in a chinese family with sitosterolaemia.
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.
24584735 2014 Inhibition of post-translational N-glycosylation by HRD1 that controls the fate of ABCG5/8 transporter.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24252657 2014 ABCG5/ABCG8 in cholesterol excretion and atherosclerosis.
More...