ABCMdb

PMID: 18343215

Tanaka AR, Kano F, Ueda K, Murata M
The ABCA1 Q597R mutant undergoes trafficking from the ER upon ER stress.
Biochem Biophys Res Commun. 2008 May 16;369(4):1174-8. Epub 2008 Mar 14., [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCA1 p.Gln597Arg The ABCA1 Q597R mutant undergoes trafficking from the ER upon ER stress Arowu R. Tanaka a , Fumi Kano a , Kazumitsu Ueda b , Masayuki Murata a,* a Department of Life Sciences, Graduate School of Arts and Sciences, The University of Tokyo, Komaba 3-8-1, Meguro-ku, Tokyo 153-8902, Japan b Laboratory of Cellular Biochemistry, Division of Applied Life Sciences, Graduate School of Agriculture, Kyoto University, Kyoto 606-8502, Japan a r t i c l e i n f o Article history: Received 4 March 2008 Available online 14 March 2008 Keywords: ABCA1 CFTR ABC protein Tangier disease Cholesterol COPII ER stress ATF6 Thapsigargin DTT a b s t r a c t Mutations in ATP binding cassette transporter 1 (ABCA1), a membrane protein associated with cellular cholesterol efflux, cause Tangier disease (TD). Login to comment 1 ABCA1 p.Gln597Arg Previously, we showed that an ABCA1 Q597R mutant (QR) identified in TD is retained in the endoplasmic reticulum. Login to comment 17 ABCA1 p.Gln597Arg We previously found that the Q597R (QR) mutation in ABCA1, which has been identified in cases of TD, disrupts both the trafficking of ABCA1 from the ER and its ability to facilitate apoA-I induced cholesterol efflux [17]. Login to comment 25 ABCA1 p.Gln597Arg The anti-ABCA1 antibody and the expression vectors encoding wild-type (WT) ABCA1 or the Q597R mutant, each fused with GFP, were generated as described previously [17]. Login to comment 30 ABCA1 p.Gln597Arg HEK293 cells stably expressing WT or Q597R mutant ABCA1-GFP (HEK-WT or HEK-QR) were selected and maintained in Dulbecco`s Modified Eagle`s Medium (DMEM) supplemented with 10% fetal calf 0006-291X/$ - see front matter Ó 2008 Elsevier Inc. All rights reserved. Login to comment 49 ABCA1 p.Gln597Arg Results Thapsigargin rescues the ABCA1-QR trafficking defect, but not its cholesterol efflux activity We have previously compared the intracellular localization of the wild-type ABCA1-GFP fusion protein with that of the Q597R mutant fused to GFP. Login to comment 101 ABCA1 p.Gln597Arg (A) Fluorescence microscopy of cells transfected with WT ABCA1-GFP and ABCA1-Q597R-GFP. Login to comment 102 ABCA1 p.Gln597Arg ABCA1 p.Gln597Arg (A) Fluorescence microscopy of cells transfected with WT ABCA1-GFP and ABCA1-Q597R-GFP. Login to comment 103 ABCA1 p.Gln597Arg ABCA1-Q597R-GFP is retained in the ER. Login to comment 115 ABCA1 p.Trp590Ser Previously, we reported that the W590S mutant of ABCA1 shows functional defects, but is localized to the PM [17]. Login to comment 116 ABCA1 p.Trp590Ser Previously, we reported that the W590S mutant of ABCA1 shows functional defects, but is localized to the PM [17]. Login to comment 141 ABCA1 p.Trp590Ser ABCA1 p.Gln597Arg W590S mutation and the Q597R mutation are within extracellular domain 1 (the ER-lumenal domain) of ABCA1, which is a mutational hotspot in TD. Login to comment 142 ABCA1 p.Trp590Ser ABCA1 p.Gln597Arg W590S mutation and the Q597R mutation are within extracellular domain 1 (the ER-lumenal domain) of ABCA1, which is a mutational hotspot in TD. Login to comment