eF-site ID 3jd8-A PDB Code 3jd8 Chain A click to enlarge Title cryo-EM structure of the full-length human NPC1 at 4.4 angstrom Classification MEMBRANE PROTEIN Compound Niemann-Pick C1 protein Source (NPC1_HUMAN) Sequence A:  QSCVWYGECGIAYGDKRYNCEYSGPPKPLPKDGYDLVQEL CPGFFFGNVSLCCDVRQLQTLKDNLQLPLQFLSRCPSCFY NLLNLFCELTCSPRQSQFLNVTATEDYVDPVTNQTKTNVK ELQYYVGQSFANAMYNACRDVEAPSSNDKALGLLCGKDAD ACNATNWIEYMFNKDNGQAPFTITPVFSDFPVHGMEPMNN ATKGCDESVDEVTAPCSCQDCSIVCGPKPQPPPPPAPWTI LGLDAMYVIMWITYMAFLLVFFGAFFAFEGCLRRLFTRWG SFCVRNPGCVIFFSLVFITACSSGLVFVRVTTNPVDLWSA PSSQARLEKEYFDQHFGPFFRTEQLIIRAPLTDKHIYQPY PSGADVPFGPPLDIQILHQVLDLQIAIENITASYDNETVT LQDICLAPLSPYNTNCTILSVLNYFQNSHSVLDHKKGDDF FVYADYHTHFLYCVRAPASLNDTSLLHDPCLGTFGGPVFP WLVLGGYDDQNYNNATALVITFPVNNYYNDTEKLQRAQAW EKEFINFVKNYKNPNLTISFTAERSIEDELNRESDSDVFT VVISYAIMFLYISLALGHMKSCRRLLVDSKVSLGIAGILI VLSSVACSLGVFSYIGLPLTLIVIEVIPFLVLAVGVDNIF ILVQAYQRDERLQGETLDQQLGRVLGEVAPSMFLSSFSET VAFFLGALSVMPAVHTFSLFAGLAVFIDFAEDGTSVQASE SCLFRFFKNSYSPLLLKDWMRPIVIAIFVGVLSFSIAVLN KVDIGLDQSLSMPDDSYMVDYFKSISQYLHAGPPVYFVLE EGHDYTSSKGQNMVCGGMGCNNDSLVQQIFNAAQLDNYTR IGFAPSSWIDDYFDWVKPQSSCCRVPEGKQRPQGGDFMRF LPMFLSDNPNPKCGKGGHAAYSSAVNILLGHGTRVGATYF MTYHTVLQTSADFIDALKKARLIASNVTETMGINGSAYRV FPYSVFYVFYEQYLTIIDDTIFNLGVSLGAIFLVTMVLLG CELWSAVIMCATIAMVLVNMFGVMWLWGISLNAVSLVNLV MSCGISVEFCSHITRAFTVSMKGSRVERAEEALAHMGSSV FSGITLTKFGGIVVLAFAKSQIFQIFYFRMYLAMVLLGAT HGLIFLPVLLSYI Description (1)  Niemann-Pick C1 protein Functional site 1) chain A residue 23-261 type TOPO_DOM sequence QSCVWYGECGIAYGDKRYNCEYSGPPKPLPKDGYDLVQEL CPGFFFGNVSLCCDVRQLQTLKDNLQLPLQFLSRCPSCFY NLLNLFCELTCSPRQSQFLNVTATEDYVDPVTNQTKTNVK ELQYYVGQSFANAMYNACRDVEAPSSNDKALGLLCGKDAD ACNATNWIEYMFNKDNGQAPFTITPVFSDFPVHGMEPMNN ATKGCDESVDEVTAPCSCQDCSIVCGPKPQPPPPPAPWT description Lumenal => ECO:0000269|PubMed:27238017 source Swiss-Prot : SWS_FT_FI1 2) chain A residue 108 type SITE sequence F description Important for cholesterol binding => ECO:0000269|PubMed:19563754 source Swiss-Prot : SWS_FT_FI10 3) chain A residue 70 type CARBOHYD sequence N description N-linked (GlcNAc...) asparagine => ECO:0000305|PubMed:10821832 source Swiss-Prot : SWS_FT_FI11 4) chain A residue 122 type CARBOHYD sequence N description N-linked (GlcNAc...) asparagine => ECO:0000269|PubMed:27238017, ECO:0000305|PubMed:10821832, ECO:0007744|PDB:3JD8 source Swiss-Prot : SWS_FT_FI12 5) chain A residue 185 type CARBOHYD sequence N description N-linked (GlcNAc...) asparagine => ECO:0000269|PubMed:27238017, ECO:0000305|PubMed:10821832, ECO:0007744|PDB:3JD8 source Swiss-Prot : SWS_FT_FI12 6) chain A residue 135 type CARBOHYD sequence N description N-linked (GlcNAc...) asparagine => ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:27238017, ECO:0007744|PDB:3JD8 source Swiss-Prot : SWS_FT_FI13 7) chain A residue 158 type CARBOHYD sequence N description N-linked (GlcNAc...) asparagine; atypical => ECO:0000269|PubMed:19563754, ECO:0000269|PubMed:27238017, ECO:0007744|PDB:3GKI, ECO:0007744|PDB:3GKJ, ECO:0007744|PDB:3JD8 source Swiss-Prot : SWS_FT_FI14 8) chain A residue 222 type CARBOHYD sequence N description N-linked (GlcNAc...) asparagine => ECO:0000269|PubMed:19563754, ECO:0000269|PubMed:27238017, ECO:0007744|PDB:3GKI, ECO:0007744|PDB:3GKJ, ECO:0007744|PDB:3JD8 source Swiss-Prot : SWS_FT_FI15 9) chain A residue 452 type CARBOHYD sequence N description N-linked (GlcNAc...) asparagine => ECO:0000269|PubMed:28784760, ECO:0007744|PDB:5U74 source Swiss-Prot : SWS_FT_FI16 10) chain A residue 459 type CARBOHYD sequence N description N-linked (GlcNAc...) asparagine => ECO:0000269|PubMed:28784760, ECO:0007744|PDB:5U74 source Swiss-Prot : SWS_FT_FI16 11) chain A residue 916 type CARBOHYD sequence N description N-linked (GlcNAc...) asparagine => ECO:0000269|PubMed:28784760, ECO:0007744|PDB:5U74 source Swiss-Prot : SWS_FT_FI16 12) chain A residue 931 type CARBOHYD sequence N description N-linked (GlcNAc...) asparagine => ECO:0000269|PubMed:28784760, ECO:0007744|PDB:5U74 source Swiss-Prot : SWS_FT_FI16 13) chain A residue 478 type CARBOHYD sequence N description N-linked (GlcNAc...) asparagine => ECO:0000269|PubMed:26846330, ECO:0000269|PubMed:28784760, ECO:0007744|PDB:5HNS, ECO:0007744|PDB:5U74 source Swiss-Prot : SWS_FT_FI17 14) chain A residue 557 type CARBOHYD sequence N description N-linked (GlcNAc...) asparagine => ECO:0000269|PubMed:26846330, ECO:0000269|PubMed:28784760, ECO:0007744|PDB:5HNS, ECO:0007744|PDB:5U74 source Swiss-Prot : SWS_FT_FI17 15) chain A residue 524 type CARBOHYD sequence N description N-linked (GlcNAc...) asparagine => ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:26846330, ECO:0000269|PubMed:27238017, ECO:0000269|PubMed:28784760, ECO:0007744|PDB:3JD8, ECO:0007744|PDB:5HNS, ECO:0007744|PDB:5U74 source Swiss-Prot : SWS_FT_FI18 16) chain A residue 572 type CARBOHYD sequence N description N-linked (GlcNAc...) asparagine => ECO:0000269|PubMed:26846330, ECO:0000269|PubMed:27238017, ECO:0007744|PDB:3JD8, ECO:0007744|PDB:5HNS source Swiss-Prot : SWS_FT_FI19 17) chain A residue 262-282 type TRANSMEM sequence ILGLDAMYVIMWITYMAFLLV description Helical => ECO:0000269|PubMed:27238017 source Swiss-Prot : SWS_FT_FI2 18) chain A residue 598 type CARBOHYD sequence N description N-linked (GlcNAc...) asparagine => ECO:0000269|PubMed:26846330, ECO:0000269|PubMed:27238017, ECO:0000269|PubMed:28784760, ECO:0007744|PDB:3JD8, ECO:0007744|PDB:5HNS, ECO:0007744|PDB:5U74 source Swiss-Prot : SWS_FT_FI20 19) chain A residue 1064 type CARBOHYD sequence N description N-linked (GlcNAc...) asparagine => ECO:0000269|PubMed:27238017, ECO:0000269|PubMed:28784760, ECO:0007744|PDB:3JD8, ECO:0007744|PDB:5U74 source Swiss-Prot : SWS_FT_FI21 20) chain A residue 1072 type CARBOHYD sequence N description N-linked (GlcNAc...) asparagine => ECO:0000255 source Swiss-Prot : SWS_FT_FI22 21) chain A residue 283-350 type TOPO_DOM sequence FFGAFFAFEGCLRRLFTRWGSFCVRNP description Cytoplasmic => ECO:0000269|PubMed:27238017 source Swiss-Prot : SWS_FT_FI3 22) chain A residue 351-371 type TRANSMEM sequence GCVIFFSLVFITACSSGLVFV description Helical => ECO:0000269|PubMed:27238017, ECO:0000269|PubMed:28784760 source Swiss-Prot : SWS_FT_FI4 23) chain A residue 621-641 type TRANSMEM sequence VFTVVISYAIMFLYISLALGH description Helical => ECO:0000269|PubMed:27238017, ECO:0000269|PubMed:28784760 source Swiss-Prot : SWS_FT_FI4 24) chain A residue 372-620 type TOPO_DOM sequence RVTTNPVDLWSAPSSQARLEKEYFDQHFGPFFRTEQLIIR APLTDKHIYQPYPSGADVPFGPPLDIQILHQVLDLQIAIE NITASYDNETVTLQDICLAPLSPYNTNCTILSVLNYFQNS HSVLDHKKGDDFFVYADYHTHFLYCVRAPASLNDTSLLHD PCLGTFGGPVFPWLVLGGYDDQNYNNATALVITFPVNNYY NDTEKLQRAQAWEKEFINFVKNYKNPNLTISFTAERSIED ELNRESDSD description Lumenal => ECO:0000269|PubMed:27238017, ECO:0000269|PubMed:28784760 source Swiss-Prot : SWS_FT_FI5 25) chain A residue 642-653 type TOPO_DOM sequence MKSCRRLLVDSK description Cytoplasmic => ECO:0000269|PubMed:28784760 source Swiss-Prot : SWS_FT_FI6 26) chain A residue 707-730 type TOPO_DOM sequence QAYQRDERLQGETLDQQLGRVLGE description Cytoplasmic => ECO:0000269|PubMed:28784760 source Swiss-Prot : SWS_FT_FI6 27) chain A residue 1119-1124 type TOPO_DOM sequence CELWSA description Cytoplasmic => ECO:0000269|PubMed:28784760 source Swiss-Prot : SWS_FT_FI6 28) chain A residue 1172-1194 type TOPO_DOM sequence TRAFTVSMKGSRVERAEEALAHM description Cytoplasmic => ECO:0000269|PubMed:28784760 source Swiss-Prot : SWS_FT_FI6 29) chain A residue 654-675 type TRANSMEM sequence VSLGIAGILIVLSSVACSLGVF description Helical => ECO:0000269|PubMed:28784760 source Swiss-Prot : SWS_FT_FI7 30) chain A residue 1224-1244 type TRANSMEM sequence FYFRMYLAMVLLGATHGLIFL description Helical => ECO:0000269|PubMed:28784760 source Swiss-Prot : SWS_FT_FI7 31) chain A residue 686-706 type TRANSMEM sequence VIEVIPFLVLAVGVDNIFILV description Helical => ECO:0000269|PubMed:28784760 source Swiss-Prot : SWS_FT_FI7 32) chain A residue 731-751 type TRANSMEM sequence VAPSMFLSSFSETVAFFLGAL description Helical => ECO:0000269|PubMed:28784760 source Swiss-Prot : SWS_FT_FI7 33) chain A residue 833-853 type TRANSMEM sequence WMRPIVIAIFVGVLSFSIAVL description Helical => ECO:0000269|PubMed:28784760 source Swiss-Prot : SWS_FT_FI7 34) chain A residue 1098-1118 type TRANSMEM sequence TIFNLGVSLGAIFLVTMVLLG description Helical => ECO:0000269|PubMed:28784760 source Swiss-Prot : SWS_FT_FI7 35) chain A residue 1125-1145 type TRANSMEM sequence VIMCATIAMVLVNMFGVMWLW description Helical => ECO:0000269|PubMed:28784760 source Swiss-Prot : SWS_FT_FI7 36) chain A residue 1151-1171 type TRANSMEM sequence AVSLVNLVMSCGISVEFCSHI description Helical => ECO:0000269|PubMed:28784760 source Swiss-Prot : SWS_FT_FI7 37) chain A residue 1195-1215 type TRANSMEM sequence GSSVFSGITLTKFGGIVVLAF description Helical => ECO:0000269|PubMed:28784760 source Swiss-Prot : SWS_FT_FI7 38) chain A residue 676-685 type TOPO_DOM sequence SYIGLPLTLI description Lumenal => ECO:0000269|PubMed:28784760 source Swiss-Prot : SWS_FT_FI8 39) chain A residue 752-759 type TOPO_DOM sequence SVMPAVHT description Lumenal => ECO:0000269|PubMed:28784760 source Swiss-Prot : SWS_FT_FI8 40) chain A residue 854-1097 type TOPO_DOM sequence NKVDIGLDQSLSMPDDSYMVDYFKSISQYLHAGPPVYFVL EEGHDYTSSKGQNMVCGGMGCNNDSLVQQIFNAAQLDNYT RIGFAPSSWIDDYFDWVKPQSSCCRVPEGKQRPQGGDFMR FLPMFLSDNPNPKCGKGGHAAYSSAVNILLGHGTRVGATY FMTYHTVLQTSADFIDALKKARLIASNVTETMGINGSAYR VFPYSVFYVFYEQYLTIIDD description Lumenal => ECO:0000269|PubMed:28784760 source Swiss-Prot : SWS_FT_FI8 41) chain A residue 1146-1150 type TOPO_DOM sequence GISLN description Lumenal => ECO:0000269|PubMed:28784760 source Swiss-Prot : SWS_FT_FI8 42) chain A residue 1216-1223 type TOPO_DOM sequence AKSQIFQI description Lumenal => ECO:0000269|PubMed:28784760 source Swiss-Prot : SWS_FT_FI8 43) chain A residue 41 type BINDING sequence N description BINDING => ECO:0000269|PubMed:19563754, ECO:0000305|PubMed:27238017, ECO:0007744|PDB:3GKI, ECO:0007744|PDB:3GKJ source Swiss-Prot : SWS_FT_FI9 44) chain A residue 79 type BINDING sequence Q description BINDING => ECO:0000269|PubMed:19563754, ECO:0000305|PubMed:27238017, ECO:0007744|PDB:3GKI, ECO:0007744|PDB:3GKJ source Swiss-Prot : SWS_FT_FI9

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