ID   G3V3D1_HUMAN            Unreviewed;       221 AA.
AC   G3V3D1;
DT   16-NOV-2011, integrated into UniProtKB/TrEMBL.
DT   16-NOV-2011, sequence version 1.
DT   16-JAN-2019, entry version 48.
DE   SubName: Full=NPC intracellular cholesterol transporter 2 {ECO:0000313|Ensembl:ENSP00000451180};
DE   Flags: Fragment;
GN   Name=NPC2 {ECO:0000313|Ensembl:ENSP00000451180};
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606 {ECO:0000313|Ensembl:ENSP00000451180, ECO:0000313|Proteomes:UP000005640};
RN   [1] {ECO:0000313|Ensembl:ENSP00000451180, ECO:0000313|Proteomes:UP000005640}
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=12508121; DOI=10.1038/nature01348;
RA   Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA   Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA   Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S.,
RA   Sun H., Du H., Pepin K., Artiguenave F., Robert C., Cruaud C.,
RA   Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P.,
RA   Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N.,
RA   Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C.,
RA   Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S.,
RA   Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B.,
RA   Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M.,
RA   Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S.,
RA   Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D.,
RA   Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A.,
RA   Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA   Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA   Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L.,
RA   Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J.,
RA   Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W.,
RA   Quetier F., Waterston R., Hood L., Weissenbach J.;
RT   "The DNA sequence and analysis of human chromosome 14.";
RL   Nature 421:601-607(2003).
RN   [2] {ECO:0000213|PubMed:21269460}
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA   Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA   Burckstummer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT   "Initial characterization of the human central proteome.";
RL   BMC Syst. Biol. 5:17-17(2011).
RN   [3] {ECO:0000313|Ensembl:ENSP00000451180}
RP   IDENTIFICATION.
RG   Ensembl;
RL   Submitted (SEP-2011) to UniProtKB.
RN   [4] {ECO:0000213|PubMed:24275569}
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA   Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
RA   Wang L., Ye M., Zou H.;
RT   "An enzyme assisted RP-RPLC approach for in-depth analysis of human
RT   liver phosphoproteome.";
RL   J. Proteomics 96:253-262(2014).
RN   [5] {ECO:0000213|PubMed:25944712}
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=25944712;
RA   Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M.,
RA   Ayoub D., Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT   "N-terminome analysis of the human mitochondrial proteome.";
RL   Proteomics 15:2519-2524(2015).
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DR   EMBL; AC005479; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   SMR; G3V3D1; -.
DR   EPD; G3V3D1; -.
DR   jPOST; G3V3D1; -.
DR   MaxQB; G3V3D1; -.
DR   PeptideAtlas; G3V3D1; -.
DR   PRIDE; G3V3D1; -.
DR   Ensembl; ENST00000553490; ENSP00000451180; ENSG00000119655.
DR   UCSC; uc059dio.1; human.
DR   EuPathDB; HostDB:ENSG00000119655.8; -.
DR   HGNC; HGNC:14537; NPC2.
DR   OpenTargets; ENSG00000119655; -.
DR   eggNOG; KOG4063; Eukaryota.
DR   eggNOG; ENOG4111Q8S; LUCA.
DR   GeneTree; ENSGT00390000006223; -.
DR   ChiTaRS; NPC2; human.
DR   Proteomes; UP000005640; Chromosome 14.
DR   Bgee; ENSG00000119655; Expressed in 234 organ(s), highest expression level in corpus epididymis.
DR   ExpressionAtlas; G3V3D1; baseline and differential.
DR   GO; GO:0005623; C:cell; IEA:GOC.
DR   GO; GO:0032367; P:intracellular cholesterol transport; IEA:InterPro.
DR   CDD; cd00916; Npc2_like; 1.
DR   InterPro; IPR014756; Ig_E-set.
DR   InterPro; IPR003172; ML_dom.
DR   InterPro; IPR033916; ML_Npc2-like.
DR   InterPro; IPR039670; NPC2-like.
DR   PANTHER; PTHR11306; PTHR11306; 1.
DR   Pfam; PF02221; E1_DerP2_DerF2; 1.
DR   SMART; SM00737; ML; 1.
DR   SUPFAM; SSF81296; SSF81296; 1.
PE   1: Evidence at protein level;
KW   Complete proteome {ECO:0000313|Proteomes:UP000005640};
KW   Proteomics identification {ECO:0000213|EPD:G3V3D1,
KW   ECO:0000213|MaxQB:G3V3D1, ECO:0000213|PeptideAtlas:G3V3D1};
KW   Reference proteome {ECO:0000313|Proteomes:UP000005640};
KW   Signal {ECO:0000256|SAM:SignalP}.
FT   SIGNAL        1     19       {ECO:0000256|SAM:SignalP}.
FT   CHAIN        20    221       {ECO:0000256|SAM:SignalP}.
FT                                /FTId=PRO_5003457283.
FT   DOMAIN       24    145       ML. {ECO:0000259|SMART:SM00737}.
FT   NON_TER     221    221       {ECO:0000313|Ensembl:ENSP00000451180}.
SQ   SEQUENCE   221 AA;  23699 MW;  C1D1F7D186E733F4 CRC64;
     MRFLAATFLL LALSTAAQAE PVQFKDCGSV DGVIKEVNVS PCPTQPCQLS KGQSYSVNVT
     FTSNIQSKSS KAVVHGILMG VPVPFPIPEP DGCKSGINCP IQKDKTYSYL NKLPVKSEYP
     SIKLVVEWQL QDDKNQSLFC WEIPVQIVSL SGGFSSLSAS LSSVHLANES AETLDSTSSS
     AASTTVTCSP MVSSDSLKRR CSVAETELRV AGSQWLSHVS F
//