General Information of Drug Transporter (DT)
DT ID DTD0439 Transporter Info
Gene Name SLC65A2
Transporter Name Niemann-Pick C1-like protein 1
Gene ID
29881
UniProt ID
Q9UHC9
Mutation-induced Structural Variation (MSV) of This DT
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PDB ID
7N4X
Expression System Homo sapiens
Method EM
Resolution 3.33 Å
Corresponding chain A
Mutation Site(s) W347R; D1046T; T1047S; V1048R; A1049F; I1050M; L1051A; S1052Y; P1053H; R1054K; L1055P; E1056L; Y1057K; S1058N; G1059S; T1060Q; I1061D; S1062Y; A1063T; H1064E; C1065A; N1066L; L1067R; Y1068A; L1069A; L1070R; D1071E; S1072L; T1073A; S1074A; R1075N; F1076I; M1077T; Y1079D; H1080L; K1081R; P1082K; L1083V; K1084P; N1085G; S1086T; Q1087D; D1088P; Y1089A; T1090F; A1092V; L1093F; R1094P; A1095Y; A1096T; R1097I; E1098T; L1099N; A1100V; A1101F; N1102Y; I1103E; T1104Q; A1105Y; D1106L; L1107T; R1108I; K1109L; V1110P; P1111E; T1113L; D1114F; P1115M; A1116L; F1117S; E1118L; V1119C; F1120L; P1121V; Y1122P; I1124F; T1125A; N1126V; V1127S; F1128C; Y1129L; E1130L; Q1131L; Y1132G; T1134D; I1135L; L1136R; P1137S; E1138G; G1139L; F1141N; M1142L; L1145I; C1146V; L1147M; V1148I; P1149L; T1150V; F1151D; A1152T; S1154G; C1155F; L1156M; L1157A; G1159W; L1160G; D1161I; L1162S; R1163Y; S1164N; G1165A; L1166V; L1167S; N1168L; L1169I; L1170N; S1171L; I1172V; V1173S; M1174A; I1175A; L1176G; V1177M; D1178S; T1179V; V1180E; G1181F; F1182V; M1183S; A1184H; L1185I; W1186T; G1187R; I1188S; S1189F; Y1190A; N1191I; A1192S; V1193T; S1194K; L1195P; I1196T; N1197W; V1199E; S1200R; V1202K; G1203E; M1204A; S1205T; V1206I; E1207S; F1208M; V1209G; H1211A; I1212V; T1213F; R1214A; S1215G; F1216V; I1218M; S1219T; T1220N; K1221L; T1223G; W1224I; E1226V; R1227L; A1228G; K1229L; E1230A; A1231K; T1232A; I1233Q; S1234L; M1235I; G1236Q; S1237I; A1238F; V1239F; A1241R; G1242L; V1243N; A1244L; M1245L; T1246I; N1247T; P1249L; I1251L; V1253H; L1254G; G1255L; L1256V; A1257F; K1258L; A1259P; Q1260V; L1261I; I1262L; Q1263S; I1264Y; F1265V; F1266G; F1267P; R1268D; L1269V; L1271P; L1272A; I1273L; T1274A; L1276E; G1277Q; L1278K; L1279R; H1280A; G1281E; L1282E; V1283A; F1284V; L1285A; P1286A; I1288M, L1289V; S1290A; Y1291S; V1292C; G1293P; P1294N; D1295H; V1296P; N1297S; P1298R; A1299V; L1300S; A1301T; L1302A; E1303D; Q1304N; K1305I; R1306Y; A1307V; E1308N; E1309H; A1310S; V1311F; A1312E; A1313G; V1314S; M1315I; V1316K; A1317G; S1318A; C1319G; P1320A; N1321I; H1322S; P1323N; S1324F; R1325L; V1326P; S1327N; T1328N; A1329G; D1330R; N1331Q; I1332F [1]
Structure Details
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Modeling Method EM
Publication year 2021
Closely Related Crystal Structure of This MSV
PDB ID Scanning Method Resolution Mutation Sites Details Ref
7N4X EM 3.33 Å W347R; D1046T; T1047S; V1048R; A1049F; I1050M; L1051A; S1052Y; P1053H; R1054K; L1055P; E1056L; Y1057K; S1058N; G1059S; T1060Q; I1061D; S1062Y; A1063T; H1064E; C1065A; N1066L; L1067R; Y1068A; L1069A; L1070R; D1071E; S1072L; T1073A; S1074A; R1075N; F1076I; M1077T; Y1079D; H1080L; K1081R; P1082K; L1083V; K1084P; N1085G; S1086T; Q1087D; D1088P; Y1089A; T1090F; A1092V; L1093F; R1094P; A1095Y; A1096T; R1097I; E1098T; L1099N; A1100V; A1101F; N1102Y; I1103E; T1104Q; A1105Y; D1106L; L1107T; R1108I; K1109L; V1110P; P1111E; T1113L; D1114F; P1115M; A1116L; F1117S; E1118L; V1119C; F1120L; P1121V; Y1122P; I1124F; T1125A; N1126V; V1127S; F1128C; Y1129L; E1130L; Q1131L; Y1132G; T1134D; I1135L; L1136R; P1137S; E1138G; G1139L; F1141N; M1142L; L1145I; C1146V; L1147M; V1148I; P1149L; T1150V; F1151D; A1152T; S1154G; C1155F; L1156M; L1157A; G1159W; L1160G; D1161I; L1162S; R1163Y; S1164N; G1165A; L1166V; L1167S; N1168L; L1169I; L1170N; S1171L; I1172V; V1173S; M1174A; I1175A; L1176G; V1177M; D1178S; T1179V; V1180E; G1181F; F1182V; M1183S; A1184H; L1185I; W1186T; G1187R; I1188S; S1189F; Y1190A; N1191I; A1192S; V1193T; S1194K; L1195P; I1196T; N1197W; V1199E; S1200R; V1202K; G1203E; M1204A; S1205T; V1206I; E1207S; F1208M; V1209G; H1211A; I1212V; T1213F; R1214A; S1215G; F1216V; I1218M; S1219T; T1220N; K1221L; T1223G; W1224I; E1226V; R1227L; A1228G; K1229L; E1230A; A1231K; T1232A; I1233Q; S1234L; M1235I; G1236Q; S1237I; A1238F; V1239F; A1241R; G1242L; V1243N; A1244L; M1245L; T1246I; N1247T; P1249L; I1251L; V1253H; L1254G; G1255L; L1256V; A1257F; K1258L; A1259P; Q1260V; L1261I; I1262L; Q1263S; I1264Y; F1265V; F1266G; F1267P; R1268D; L1269V; L1271P; L1272A; I1273L; T1274A; L1276E; G1277Q; L1278K; L1279R; H1280A; G1281E; L1282E; V1283A; F1284V; L1285A; P1286A; I1288M, L1289V; S1290A; Y1291S; V1292C; G1293P; P1294N; D1295H; V1296P; N1297S; P1298R; A1299V; L1300S; A1301T; L1302A; E1303D; Q1304N; K1305I; R1306Y; A1307V; E1308N; E1309H; A1310S; V1311F; A1312E; A1313G; V1314S; M1315I; V1316K; A1317G; S1318A; C1319G; P1320A; N1321I; H1322S; P1323N; S1324F; R1325L; V1326P; S1327N; T1328N; A1329G; D1330R; N1331Q; I1332F
Show Detail
[1]
Structure
Expression System Homo sapiens
Corresponding chain A
Sequence Length 1-1359 Mutation Yes
References
1 Structures of dimeric human NPC1L1 provide insight into mechanisms for cholesterol absorption. Sci Adv. 2021;7(34).

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