ABCMdb

ABCC3 p.Arg99Gln

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Publications

PMID: 20103563 [PubMed] Klaassen CD et al: "Xenobiotic, bile acid, and cholesterol transporters: function and regulation."

No. Sentence Comment

7118 Nucleotide Change Amino Acid Change In Vitro Function Protein Expression/Localization ABCC1 MRP1 G128C C43S 1↔ Intracellular C218T T73I 1↔ Normal C257T S92F 2↔ Normal C350T T117M 2↔ Normal G689A R230Q ↔ Normal G1057A V353M N.D. N.D. G1299T R433S 2↔ Normal G1898A R633Q 2↔ Normal G2012T G671V ↔ Normal G2168A R723Q 2 Normal G2965A A989T 2↔ Normal G3140C C1047S 1↔ Normal G3173A R1058Q ↔ Normal C4535T S1512L ↔ Normal ABCC2 MRP2 C-24T N.D. N.D. G1058A R353H N.D. N.D. G1249A V417I ↔ Normal C2366T S789F 12 Intracellular T2780G L927R N.D. N.D. C3298T R1100C N.D. N.D. G3299A R1100H N.D. N.D. T3563A V1188E N.D. N.D. G4348A A1450T ↔ Normal/Intracellular G4544A C1515Y N.D. N.D. ABCC3 MRP3 G32A G11D ↔ Normal C202T H68Y N.D. N.D. G296A R99Q N.D. Normal C1037T S346F 2 Normal C1537A Q513K N.D. N.D. T1643A L548Q N.D. N.D. G1820A S607N 2 Normal C2221T Gln741STOP N.D. N.D. G2293C V765L ↔ Normal G2395A V799M N.D. N.D. C2758T P920S 1 Normal G2768A R923Q 1 Normal C3657A S1219R N.D. N.D. C3856G R1286G ↔ Normal G3890A R1297H N.D. N.D. C4042T R1348C 1 Normal A4094G Q1365R ↔ Normal C4141A R1381S ↔ Intracellular C4217T T1406M N.D. N.D. G4267A G1423R N.D. N.D. ABCC4 MRP4 C52A L18I N.D. N.D. C232G P78A 2↔ Normal T551C M184T N.D. N.D. G559T G187W 2 Reduced A877G K293E ↔ Normal G912T K304N ↔ Normal C1067T T356M N.D. N.D. C1208T P403L 2↔ Normal G1460A G487E 2 Normal A1492G K498E ↔ Normal A1875G I625M N.D. N.D. C2000T P667L N.D. N.D. A2230G M744V ↔ Normal G2269A E757K N.D. Intracellular G2459T R820I N.D. N.D. G2560T V854F N.D. N.D. G2698T V900L N.D. N.D. G2867C C956S 1↔ Normal G3211A V1071I ↔ Normal C3425T T1142M N.D. N.D. G3659A R1220Q N.D. N.D. A3941G Q1314R N.D. N.D. 2, reduced function; 1, increased function; ↔, no change in function; N.D. not determined. Login to comment
7115 Nucleotide Change Amino Acid Change In Vitro Function Protein Expression/Localization ABCC1 MRP1 G128C C43S 1࢒ Intracellular C218T T73I 1࢒ Normal C257T S92F 2࢒ Normal C350T T117M 2࢒ Normal G689A R230Q ࢒ Normal G1057A V353M N.D. N.D. G1299T R433S 2࢒ Normal G1898A R633Q 2࢒ Normal G2012T G671V ࢒ Normal G2168A R723Q 2 Normal G2965A A989T 2࢒ Normal G3140C C1047S 1࢒ Normal G3173A R1058Q ࢒ Normal C4535T S1512L ࢒ Normal ABCC2 MRP2 C-24T N.D. N.D. G1058A R353H N.D. N.D. G1249A V417I ࢒ Normal C2366T S789F 12 Intracellular T2780G L927R N.D. N.D. C3298T R1100C N.D. N.D. G3299A R1100H N.D. N.D. T3563A V1188E N.D. N.D. G4348A A1450T ࢒ Normal/Intracellular G4544A C1515Y N.D. N.D. ABCC3 MRP3 G32A G11D ࢒ Normal C202T H68Y N.D. N.D. G296A R99Q N.D. Normal C1037T S346F 2 Normal C1537A Q513K N.D. N.D. T1643A L548Q N.D. N.D. G1820A S607N 2 Normal C2221T Gln741STOP N.D. N.D. G2293C V765L ࢒ Normal G2395A V799M N.D. N.D. C2758T P920S 1 Normal G2768A R923Q 1 Normal C3657A S1219R N.D. N.D. C3856G R1286G ࢒ Normal G3890A R1297H N.D. N.D. C4042T R1348C 1 Normal A4094G Q1365R ࢒ Normal C4141A R1381S ࢒ Intracellular C4217T T1406M N.D. N.D. G4267A G1423R N.D. N.D. ABCC4 MRP4 C52A L18I N.D. N.D. C232G P78A 2࢒ Normal T551C M184T N.D. N.D. G559T G187W 2 Reduced A877G K293E ࢒ Normal G912T K304N ࢒ Normal C1067T T356M N.D. N.D. C1208T P403L 2࢒ Normal G1460A G487E 2 Normal A1492G K498E ࢒ Normal A1875G I625M N.D. N.D. C2000T P667L N.D. N.D. A2230G M744V ࢒ Normal G2269A E757K N.D. Intracellular G2459T R820I N.D. N.D. G2560T V854F N.D. N.D. G2698T V900L N.D. N.D. G2867C C956S 1࢒ Normal G3211A V1071I ࢒ Normal C3425T T1142M N.D. N.D. G3659A R1220Q N.D. N.D. A3941G Q1314R N.D. N.D. 2, reduced function; 1, increased function; ࢒, no change in function; N.D. not determined. Login to comment

PMID: 18698235 [PubMed] Kobayashi K et al: "Functional analysis of nonsynonymous single nucleotide polymorphism type ATP-binding cassette transmembrane transporter subfamily C member 3."

No. Sentence Comment

6 In contrast, the cellular localization, protein expression and function of other eight kinds of SNPs type ABCC3 (G11D, R99Q, V765L, P920S, R923Q, R1286G, R1348C, and Q1365R ABCC3) remained normal. Login to comment
40 Using site-directed mutagenesis, SNP-type ABCC3 (G11D, R99Q, S346F, S607N, V765L, P920S, R923Q, R1286G, R1348C, Q1365R, and R1381S ABCC3) was constructed on a pBluescript SK ( - ) vector. Login to comment
93 Protein expression of ATP-binding cassette transmembrane transporter subfamily C member 3 in HeLa cells The protein expression and modification of ABCC3 in HeLa cells were determined by Western blot analysis Fig. 1 G11D 0.18% R99Q 0.54% S346F 0.91% S607N 0.99% V765L 1.09% P920S 3.88% R923Q 0.55% R1286G 0.18% R1348C 1.65% R1381S 0.22% Q1365R 0.33% Outside Inside NBD2 NBD1 Predicted secondary structure of ATP-binding cassette transmembrane transporter subfamily C member 3 showing the position of the eleven nonsynonymous variants. Login to comment
118 Transport activities of the ATP-binding cassette transmembrane transporter subfamily C member 3 variants The transport function of wild-type and SNP-type ABCC3 was studied by examining the ATP-dependent uptake of [3 H]E217bG into membrane vesicles isolated from Sf9 cells infected with recombinant baculoviruses Table 1 Allele frequency of ABCC3 SNPs examined in this study Ethnic population SNP sequence Asian (%) African-American (%) Pacific islander (%) Mexican (%) Caucasian (%) SubSaharan- African (%) Total (%) Reference G11D 0.83 (120) 0 (160) 0 (12) 0 (100) 0 (160) 0.18 (552) PharmGKB 0.6 (178)a Fukushima-Uesaka et al. 0.5 (206) Lang et al. R99Q 0 (120) 1.88 (160) 0 (12) 0 (100) 0 (160) 0.54 (552) PharmGKB S346F 0 (120) 0.62 (160) 0 (12) 0 (100) 2.5 (160) 0.91 (552) PharmGKB 0.5 (206) Lang et al. S607N 0 (296) 2.76 (290) 0 (10) 1 (100) 0 (210) 0.99 (906) PharmGKB 11.7 (120) dbSNP V765L 0 (120) 3.12 (160) 0 (12) 1 (100) 0 (160) 1.09 (552) PharmGKB P920S 0 (292) 10.3 (290) 0 (12) 0 (100) 2.4 (280) 3.88 (902) PharmGKB R923Q 0 (108) 0.62 (160) 0 (12) 0 (100) 1.25 (160) 0.55 (550) PharmGKB R1286G 0 (120) 0.62 (160) 0 (12) 0 (100) 0 (160) 0.18 (552) PharmGKB R1348C 0 (298) 5.17 (290) 0 (12) 0 (100) 0 (210) 1.65 (910) PharmGKB 7.5 (120) dbSNP Q1365R 0 (298) 1.05 (286) 0 (12) 0 (100) 0 (208) 0.33 (904) PharmGKB R1381S 0 (298) 0 (290) 0 (12) 2 (100) 0 (210) 0.22 (910) PharmGKB Allele frequencies (%) in individual ethnic population are shown. Login to comment
124 ABCC3 SNP analysis Kobayashi et al. 827 Fig. WT R1381S G11D R99Q S346F S607N V765L P920S R923Q R1286G WT ABCC3 Calnexin Calnexin merge R1381S merge ABCC3 R1348C Q1365R (a) (b) Subcellular localization of ATP-binding cassette transmembrane transporter subfamily C member 3 (ABCC3) in HeLa cells. Login to comment
140 Discussion On account of its inducible nature under cholestatic conditions, ABCC3/Abcc3 is considered to provide a compensatory efflux pathway for endogenous and exo- Table 2 Corresponding amino acid residues in other ABCC family proteins Protein Species G11D R99Q S346F S607N V765L P920S R923Q R1286G R1348C Q1365R R1381S ABCC3 Human G R S S V P R R R Q R Abcc3 Mouse G S T N V T K R V Q R Abcc3 Rat G S T N V P K S F Q R ABCC1 Human S I D S V R N V I K R ABCC2 Human - A L G T K R K I K R ABCC4 Human - - L L V Q R E W K R ABCC5 Human - - L L L - D E K K R Amino acid residues in other ABCC family proteins at the corresponding positions to 11 amino acid residues in human ABCC3 examined in this study. Login to comment
142 Fig. 3 (a) (b) Treatment WT R1381S Endo HPNGaseEndo HPNGase 190 kDa 180 kDa 170 kDa 160 kDa 190 kDa 170 kDa 160 kDa WT G11D S346F R99Q S607N V765L P920S R923Q R1286G R1348C Q1365R R1381S pcDNA3.1(+) Western blot analysis of wild-type and single nucleotide polymorphism-type ATP-binding cassette transmembrane transporter subfamily C member 3 (ABCC3) proteins expressed in HeLa cells. Login to comment