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NPC intracellular cholesterol transporter 1 (Niemann-Pick C1 protein)

 F7DIC2_MACMU            Unreviewed;      1277 AA.
F7DIC2; I2CU31;
27-JUL-2011, integrated into UniProtKB/TrEMBL.
30-NOV-2016, sequence version 2.
25-OCT-2017, entry version 45.
SubName: Full=NPC intracellular cholesterol transporter 1 {ECO:0000313|Ensembl:ENSMMUP00000028303};
SubName: Full=Niemann-Pick C1 protein {ECO:0000313|EMBL:AFJ70466.1};
Name=NPC1 {ECO:0000313|EMBL:AFJ70466.1,
ECO:0000313|Ensembl:ENSMMUP00000028303};
Macaca mulatta (Rhesus macaque).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Cercopithecidae; Cercopithecinae; Macaca.
NCBI_TaxID=9544 {ECO:0000313|Ensembl:ENSMMUP00000028303, ECO:0000313|Proteomes:UP000006718};
[1] {ECO:0000313|Ensembl:ENSMMUP00000028303, ECO:0000313|Proteomes:UP000006718}
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
STRAIN=17573 {ECO:0000313|Ensembl:ENSMMUP00000028303,
ECO:0000313|Proteomes:UP000006718};
PubMed=17431167; DOI=10.1126/science.1139247;
Gibbs R.A., Rogers J., Katze M.G., Bumgarner R., Weinstock G.M.,
Mardis E.R., Remington K.A., Strausberg R.L., Venter J.C.,
Wilson R.K., Batzer M.A., Bustamante C.D., Eichler E.E., Hahn M.W.,
Hardison R.C., Makova K.D., Miller W., Milosavljevic A., Palermo R.E.,
Siepel A., Sikela J.M., Attaway T., Bell S., Bernard K.E., Buhay C.J.,
Chandrabose M.N., Dao M., Davis C., Delehaunty K.D., Ding Y.,
Dinh H.H., Dugan-Rocha S., Fulton L.A., Gabisi R.A., Garner T.T.,
Godfrey J., Hawes A.C., Hernandez J., Hines S., Holder M., Hume J.,
Jhangiani S.N., Joshi V., Khan Z.M., Kirkness E.F., Cree A.,
Fowler R.G., Lee S., Lewis L.R., Li Z., Liu Y.-S., Moore S.M.,
Muzny D., Nazareth L.V., Ngo D.N., Okwuonu G.O., Pai G., Parker D.,
Paul H.A., Pfannkoch C., Pohl C.S., Rogers Y.-H.C., Ruiz S.J.,
Sabo A., Santibanez J., Schneider B.W., Smith S.M., Sodergren E.,
Svatek A.F., Utterback T.R., Vattathil S., Warren W., White C.S.,
Chinwalla A.T., Feng Y., Halpern A.L., Hillier L.W., Huang X.,
Minx P., Nelson J.O., Pepin K.H., Qin X., Sutton G.G., Venter E.,
Walenz B.P., Wallis J.W., Worley K.C., Yang S.-P., Jones S.M.,
Marra M.A., Rocchi M., Schein J.E., Baertsch R., Clarke L., Csuros M.,
Glasscock J., Harris R.A., Havlak P., Jackson A.R., Jiang H., Liu Y.,
Messina D.N., Shen Y., Song H.X.-Z., Wylie T., Zhang L., Birney E.,
Han K., Konkel M.K., Lee J., Smit A.F.A., Ullmer B., Wang H., Xing J.,
Burhans R., Cheng Z., Karro J.E., Ma J., Raney B., She X., Cox M.J.,
Demuth J.P., Dumas L.J., Han S.-G., Hopkins J., Karimpour-Fard A.,
Kim Y.H., Pollack J.R., Vinar T., Addo-Quaye C., Degenhardt J.,
Denby A., Hubisz M.J., Indap A., Kosiol C., Lahn B.T., Lawson H.A.,
Marklein A., Nielsen R., Vallender E.J., Clark A.G., Ferguson B.,
Hernandez R.D., Hirani K., Kehrer-Sawatzki H., Kolb J., Patil S.,
Pu L.-L., Ren Y., Smith D.G., Wheeler D.A., Schenck I., Ball E.V.,
Chen R., Cooper D.N., Giardine B., Hsu F., Kent W.J., Lesk A.,
Nelson D.L., O'brien W.E., Pruefer K., Stenson P.D., Wallace J.C.,
Ke H., Liu X.-M., Wang P., Xiang A.P., Yang F., Barber G.P.,
Haussler D., Karolchik D., Kern A.D., Kuhn R.M., Smith K.E.,
Zwieg A.S.;
"Evolutionary and biomedical insights from the rhesus macaque
genome.";
Science 316:222-234(2007).
[2] {ECO:0000313|Ensembl:ENSMMUP00000028303}
IDENTIFICATION.
STRAIN=17573 {ECO:0000313|Ensembl:ENSMMUP00000028303};
Ensembl;
Submitted (JUL-2011) to UniProtKB.
[3] {ECO:0000313|EMBL:AFJ70466.1}
NUCLEOTIDE SEQUENCE.
TISSUE=Brain {ECO:0000313|EMBL:AFJ70466.1};
PubMed=25319552; DOI=10.1186/1745-6150-9-20;
Zimin A.V., Cornish A.S., Maudhoo M.D., Gibbs R.M., Zhang X.,
Pandey S., Meehan D.T., Wipfler K., Bosinger S.E., Johnson Z.P.,
Tharp G.K., Marcais G., Roberts M., Ferguson B., Fox H.S.,
Treangen T., Salzberg S.L., Yorke J.A., Norgren R.B.Jr.;
"A new rhesus macaque assembly and annotation for next-generation
sequencing analyses.";
Biol. Direct 9:20-20(2014).
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EMBL; JSUE03019311; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; JSUE03019312; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; JV565131; AFJ70466.1; -; mRNA.
RefSeq; XP_014977155.1; XM_015121669.1.
UniGene; Mmu.21991; -.
STRING; 9544.ENSMMUP00000028303; -.
Ensembl; ENSMMUT00000030245; ENSMMUP00000028303; ENSMMUG00000021484.
GeneID; 700835; -.
CTD; 4864; -.
eggNOG; KOG1933; Eukaryota.
eggNOG; ENOG410XR54; LUCA.
GeneTree; ENSGT00900000140845; -.
InParanoid; F7DIC2; -.
OrthoDB; EOG091G00JD; -.
TreeFam; TF300416; -.
Proteomes; UP000006718; Chromosome 18.
Bgee; ENSMMUG00000021484; -.
ExpressionAtlas; F7DIC2; baseline.
GO; GO:0005783; C:endoplasmic reticulum; IEA:Ensembl.
GO; GO:0005768; C:endosome; IEA:Ensembl.
GO; GO:0070062; C:extracellular exosome; IEA:Ensembl.
GO; GO:0005794; C:Golgi apparatus; IEA:Ensembl.
GO; GO:0005887; C:integral component of plasma membrane; IEA:Ensembl.
GO; GO:0005765; C:lysosomal membrane; IEA:Ensembl.
GO; GO:0045121; C:membrane raft; IEA:Ensembl.
GO; GO:0005635; C:nuclear envelope; IEA:Ensembl.
GO; GO:0048471; C:perinuclear region of cytoplasm; IEA:Ensembl.
GO; GO:0015485; F:cholesterol binding; IEA:Ensembl.
GO; GO:0005319; F:lipid transporter activity; IEA:InterPro.
GO; GO:0007628; P:adult walking behavior; IEA:Ensembl.
GO; GO:0006914; P:autophagy; IEA:Ensembl.
GO; GO:0071404; P:cellular response to low-density lipoprotein particle stimulus; IEA:Ensembl.
GO; GO:0071383; P:cellular response to steroid hormone stimulus; IEA:Ensembl.
GO; GO:0033344; P:cholesterol efflux; IEA:Ensembl.
GO; GO:0042632; P:cholesterol homeostasis; IEA:Ensembl.
GO; GO:0006897; P:endocytosis; IEA:Ensembl.
GO; GO:0090150; P:establishment of protein localization to membrane; IEA:Ensembl.
GO; GO:0031579; P:membrane raft organization; IEA:Ensembl.
GO; GO:0016242; P:negative regulation of macroautophagy; IEA:Ensembl.
GO; GO:2000189; P:positive regulation of cholesterol homeostasis; IEA:Ensembl.
GO; GO:0006486; P:protein glycosylation; IEA:Ensembl.
GO; GO:0042493; P:response to drug; IEA:Ensembl.
GO; GO:0046718; P:viral entry into host cell; IEA:Ensembl.
InterPro; IPR004765; NP_C_type.
InterPro; IPR032190; NPC1_N.
InterPro; IPR003392; Ptc/Disp.
InterPro; IPR000731; SSD.
Pfam; PF16414; NPC1_N; 1.
Pfam; PF02460; Patched; 1.
Pfam; PF12349; Sterol-sensing; 1.
TIGRFAMs; TIGR00917; 2A060601; 1.
PROSITE; PS50156; SSD; 1.
2: Evidence at transcript level;
Complete proteome {ECO:0000313|Proteomes:UP000006718};
Membrane {ECO:0000256|SAM:Phobius};
Reference proteome {ECO:0000313|Proteomes:UP000006718};
Signal {ECO:0000256|SAM:SignalP};
Transmembrane {ECO:0000256|SAM:Phobius};
Transmembrane helix {ECO:0000256|SAM:Phobius}.
SIGNAL 1 22 {ECO:0000256|SAM:SignalP}.
CHAIN 23 1277 {ECO:0000256|SAM:SignalP}.
/FTId=PRO_5010832712.
TRANSMEM 267 293 Helical. {ECO:0000256|SAM:Phobius}.
TRANSMEM 351 371 Helical. {ECO:0000256|SAM:Phobius}.
TRANSMEM 621 642 Helical. {ECO:0000256|SAM:Phobius}.
TRANSMEM 654 678 Helical. {ECO:0000256|SAM:Phobius}.
TRANSMEM 684 706 Helical. {ECO:0000256|SAM:Phobius}.
TRANSMEM 727 748 Helical. {ECO:0000256|SAM:Phobius}.
TRANSMEM 760 785 Helical. {ECO:0000256|SAM:Phobius}.
TRANSMEM 1098 1116 Helical. {ECO:0000256|SAM:Phobius}.
TRANSMEM 1123 1144 Helical. {ECO:0000256|SAM:Phobius}.
TRANSMEM 1150 1168 Helical. {ECO:0000256|SAM:Phobius}.
TRANSMEM 1189 1215 Helical. {ECO:0000256|SAM:Phobius}.
TRANSMEM 1227 1250 Helical. {ECO:0000256|SAM:Phobius}.
DOMAIN 620 785 SSD. {ECO:0000259|PROSITE:PS50156}.
SEQUENCE 1277 AA; 142130 MW; 2C84D37C9F62680E CRC64;
MSARGLALGL LLLLLCLAQV FSQSCVWYGE CGIAYGDKRY NCEYFGPPKP LPKDGYDLVQ
ELCPGFFFGN VSLCCDVQQL QTLKDNLQLP LQFLSRCPSC FYNLLNLFCE LTCSPRQSQF
LNVTATEDYV DPVTNQTKTN VKELQYFVGQ SFANAMYNAC RDVEAPSSND KALGLLCGKD
ADACNATNWI EYMFNKDNGQ APFTITPVFS DFPVHGMEPM NNATKGCDES VDEVTAPCSC
QDCSIVCGPK PQPPPPPAPW TILGLDAMYV IMWITYMAFL LVFFGAFFAV WCYRKRYFVS
EYTPIDSNIA FSVNASDKGE ASCCDPVSAA FEGCLRRLFT RWGSFCVRNP GCVIFFSLVF
IAVCSSGLVF VRVTTNPIDL WSAPSSQARL EKEYFDQHFG PFFRTEQLII RAPLTDKHTY
QPYPSGADVP FGPPLDIQIL HQVLDLQIAI ENITASYNNE TVTLQDICLA PLSPYNTNCT
IMSVLNYFQN SHSVLDHKKG DDFFVYADYH THFLYCVRAP ASLNDTSLLH DPCLGTFGGP
VFPWLVLGGY DDQNYNNATA LVITFPVNNY YNDTEKLQRA QAWEKEFINL VRNYKNPNLT
ISFSAERSIE DELNRESDSD IFTVVISYAI MFLYISLALG HIKSCRRLLV DSKISLGIAG
ILIVLSSVAC SLGIFSYIGL PLTLIVIEVI PFLVLAVGVD NIFILVQAYQ RDERLQGETL
DQQLGRVLGE VAPSMFLSSF SETVAFFLGA MSVMPAVHTF SLFAGLAVFI DFLLQITCFV
SLLGLDINRQ EKNRLDIFCC VRGAEDGTSV QASESCLFRF FKNSYSPLLL KDWMRPIVIA
IFVGVLSFSI AVLNKVDIGL DQFLSMPDDS YVVDYFKSMS QYLHAGPPVY FVLEEGHDYT
SPKGQNMVCG GMGCNNDSLV QQIFNAAQLD NYTRIGFAPS SWIDDYFDWV KPQSSCCRVD
NITDQFCNAS VVDPACVRCR PLTPEGKQRP QGGDFMRFLP MFLSDNPNPK CGKGGHAAYS
SAVNILGNGT RVGATYFMTY HTVLQTSADF IDALKKARLI ASNVTETMGI NGSAYRVFPY
SVFYVFYEQY LTIIDDTIFN LGVSLGAIFL VTMVLLGCEL WSAVIMCTTI AMVLVNMFGV
MWLWGISLNA VSLVNLVMSC GISVEFCSHI TRAFTVSTKG SRVERAEEAL AHMGSSVFSG
ITLTKFGGIV VLAFAKSQIF QIFYFRMYLA MVLLGATHGL IFLPVLLSYI GPSVNKAKSC
ATEERYKGTE RERLLNF


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