ABCMdb

PMID: 15347662

Fitzgerald ML, Okuhira K, Short GF 3rd, Manning JJ, Bell SA, Freeman MW
ATP-binding cassette transporter A1 contains a novel C-terminal VFVNFA motif that is required for its cholesterol efflux and ApoA-I binding activities.
J Biol Chem. 2004 Nov 12;279(46):48477-85. Epub 2004 Sep 3., [PubMed]

Sentences

No. Mutations Sentence Comment

49 ABCA4 p.Phe2219Ala Mutations of the VFVNFA motif of ABCA1 (2215 VFVNFA2220 3 2215 AAAAA- A2220 , 2215 VFVNFA2220 3 2215 VFLYFS2220 , V2215A, F2216A, V2217A, V2217L, N2218A, and F2219A) were generated by overlap PCR. Login to comment 113 ABCA1 p.Arg2144* ABCA1 p.Arg2144* ABCA1 p.Gln2215* The ABCA1 C Terminus Is Essential for Efflux but the PDZ Protein-binding Motif Is Not-To test the functional importance of the C terminus, we engineered the 46-amino acid Tangier deletion (Q2215X, ⌬46) as well as a larger deletion described by Clee et al. (R2144X, ⌬117) (33) into our cDNA constructs. Login to comment 163 ABCA4 p.Phe2219Ala To further dissect the motif itself, the contributions of the individual residues within the VFVNFA motif were defined by generating single alanine substitutions (V2215A, F2216A, V2217A, N2218A, and F2219A). Login to comment 164 ABCA4 p.Phe2219Ala ABCA4 p.Phe2219Ala To further dissect the motif itself, the contributions of the individual residues within the VFVNFA motif were defined by generating single alanine substitutions (V2215A, F2216A, V2217A, N2218A, and F2219A). Login to comment 165 ABCA4 p.Phe2219Ala At moderate expression levels in 293 cells, all of the single mutations showed a near complete loss of efflux activity with the exception of the F2219A mutant, whose activity was similar to that of wild type ABCA1 (Fig. 7A). Login to comment