ABCB6 p.Lys629Arg
| Predicted by SNAP2: | A: D (91%), C: D (91%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (95%), I: D (95%), L: D (95%), M: D (95%), N: D (95%), P: D (95%), Q: D (95%), R: D (95%), S: D (95%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] MTABC3, a novel mitochondrial ATP-binding cassette... J Biol Chem. 2000 Jun 9;275(23):17536-40. Mitsuhashi N, Miki T, Senbongi H, Yokoi N, Yano H, Miyazaki M, Nakajima N, Iwanaga T, Yokoyama Y, Shibata T, Seino S
MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis.
J Biol Chem. 2000 Jun 9;275(23):17536-40., [PMID:10837493]
Abstract [show]
Atm1p, a mitochondrial half-type ATP-binding cassette (ABC) protein in Saccharomyces cerevisiae, transports a precursor of the iron-sulfur (Fe/S) cluster from mitochondria to the cytosol. We have identified a novel half-type human ABC protein, designating it MTABC3 (mammalian mitochondrial ABC protein 3). MTABC3 mRNA is ubiquitously expressed in all of the rat and human tissues examined. MTABC3 protein is shown to be present in the mitochondria, as assessed by immunoblot analysis and confocal microscopic analysis of subcellular fractions of Chinese hamster ovary cells stably expressing MTABC3. Accumulation of iron in the mitochondria, mitochondrial DNA damage, and respiratory dysfunction in the yeast ATM1 mutant strain (atm1-1 mutant cells) were almost fully reversed by expressing MTABC3 in these mutant cells. These results indicate that MTABC3 is a novel ortholog of the yeast and suggest an important role in mitochondrial function. Interestingly, the human MTABC3 gene has been mapped to chromosome 2q36, a region within the candidate locus for lethal neonatal metabolic syndrome, a disorder of the mitochondrial function associated with iron metabolism, indicating that MTABC3 is a candidate gene for this disorder.
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No. Sentence Comment
67 Analysis of MTABC3 Function-The Walker A-encoding region of MTABC3 cDNA was mutated by a PCR-based method using oligonucleotides bearing mismatched bases at the residues to be mutated (5Ј-CCA TCT GGG GCA GCG AGG AGC ACA ATT TTG-3Ј and 5Ј-CAA AAT TGT GCT CCT CGC TGC CCC AGA TGG-3Ј for G628A and K629R, respectively) in combination with oligonucleotides (5Ј-GTT ACC AGT TAC GTC TTC CT-3Ј and 5Ј-TCT TTG AGA GGG AAG TGG CC-3Ј) (24).
X
ABCB6 p.Lys629Arg 10837493:67:319
status: NEW128 We then mutated the Walker A motif, GPSGAGKST of MTABC3 to GPSGAARST, and the resultant double mutant, MTABC3 (G628A, K629R), was introduced into atm1-1 mutant cells.
X
ABCB6 p.Lys629Arg 10837493:128:118
status: NEW139 In addition, only 30% of atm1-1 mutant cells transformed with the double mutant MTABC3 (G628A, K629R) maintained respiratory function.
X
ABCB6 p.Lys629Arg 10837493:139:95
status: NEW149 Interestingly, although the iron accumulation is only partially reversed (Fig. 3A), the damage of mitochondrial DNA (Fig. 3B) is almost fully reversed by the double mutant MTABC3 (G628A, K629R) in atm1-1 mutant cells.
X
ABCB6 p.Lys629Arg 10837493:149:187
status: NEW171 A, iron content of mitochondria isolated from yeast YM13-1c strain transformed with pYES2, ATM1, MTABC3, or MTABC3 double mutant (G628A, K629R) (values are mean Ϯ S.E.).
X
ABCB6 p.Lys629Arg 10837493:171:137
status: NEW174 C, the rates (%) of cells maintaining mitochondrial respiratory function obtained by transforming pYES2 vector (Ⅺ), ATM1 (f), MTABC3 (⅜), or MTABC3 double mutant G628A, K629R (q) into atm1-1 mutant cells at the indicated times are shown (mean Ϯ S.E.).
X
ABCB6 p.Lys629Arg 10837493:174:183
status: NEW66 Analysis of MTABC3 Function-The Walker A-encoding region of MTABC3 cDNA was mutated by a PCR-based method using oligonucleotides bearing mismatched bases at the residues to be mutated (5b18;-CCA TCT GGG GCA GCG AGG AGC ACA ATT TTG-3b18; and 5b18;-CAA AAT TGT GCT CCT CGC TGC CCC AGA TGG-3b18; for G628A and K629R, respectively) in combination with oligonucleotides (5b18;-GTT ACC AGT TAC GTC TTC CT-3b18; and 5b18;-TCT TTG AGA GGG AAG TGG CC-3b18;) (24).
X
ABCB6 p.Lys629Arg 10837493:66:319
status: NEW127 We then mutated the Walker A motif, GPSGAGKST of MTABC3 to GPSGAARST, and the resultant double mutant, MTABC3 (G628A, K629R), was introduced into atm1-1 mutant cells.
X
ABCB6 p.Lys629Arg 10837493:127:118
status: NEW138 In addition, only 30% of atm1-1 mutant cells transformed with the double mutant MTABC3 (G628A, K629R) maintained respiratory function.
X
ABCB6 p.Lys629Arg 10837493:138:95
status: NEW148 Interestingly, although the iron accumulation is only partially reversed (Fig. 3A), the damage of mitochondrial DNA (Fig. 3B) is almost fully reversed by the double mutant MTABC3 (G628A, K629R) in atm1-1 mutant cells.
X
ABCB6 p.Lys629Arg 10837493:148:187
status: NEW170 A, iron content of mitochondria isolated from yeast YM13-1c strain transformed with pYES2, ATM1, MTABC3, or MTABC3 double mutant (G628A, K629R) (values are mean afe; S.E.).
X
ABCB6 p.Lys629Arg 10837493:170:137
status: NEW173 C, the rates (%) of cells maintaining mitochondrial respiratory function obtained by transforming pYES2 vector (ǧa;), ATM1 (f), MTABC3 (Ǧc;), or MTABC3 double mutant G628A, K629R (cf;) into atm1-1 mutant cells at the indicated times are shown (mean afe; S.E.).
X
ABCB6 p.Lys629Arg 10837493:173:181
status: NEW