ID E7EMS2_HUMAN Unreviewed; 201 AA. AC E7EMS2; DT 08-MAR-2011, integrated into UniProtKB/TrEMBL. DT 08-MAR-2011, sequence version 1. DT 16-JAN-2019, entry version 59. DE SubName: Full=NPC intracellular cholesterol transporter 2 {ECO:0000313|Ensembl:ENSP00000412103}; GN Name=NPC2 {ECO:0000313|Ensembl:ENSP00000412103}; 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:ENSP00000412103, ECO:0000313|Proteomes:UP000005640}; RN [1] {ECO:0000313|Ensembl:ENSP00000412103, 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:ENSP00000412103} RP IDENTIFICATION. RG Ensembl; RL Submitted (JUL-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). CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC ----------------------------------------------------------------------- DR EMBL; AC005479; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR ProteinModelPortal; E7EMS2; -. DR SMR; E7EMS2; -. DR jPOST; E7EMS2; -. DR MaxQB; E7EMS2; -. DR PeptideAtlas; E7EMS2; -. DR PRIDE; E7EMS2; -. DR Ensembl; ENST00000434013; ENSP00000412103; ENSG00000119655. DR UCSC; uc059dil.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 PhylomeDB; E7EMS2; -. 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; E7EMS2; 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:E7EMS2, KW ECO:0000213|MaxQB:E7EMS2, ECO:0000213|PeptideAtlas:E7EMS2}; KW Reference proteome {ECO:0000313|Proteomes:UP000005640}; KW Signal {ECO:0000256|SAM:SignalP}. FT SIGNAL 1 19 {ECO:0000256|SAM:SignalP}. FT CHAIN 20 201 {ECO:0000256|SAM:SignalP}. FT /FTId=PRO_5003217303. FT DOMAIN 24 145 ML. {ECO:0000259|SMART:SM00737}. SQ SEQUENCE 201 AA; 22441 MW; 0F377D8BDBD6937B CRC64; MRFLAATFLL LALSTAAQAE PVQFKDCGSV DGVIKEVNVS PCPTQPCQLS KGQSYSVNVT FTSNIQSKSS KAVVHGILMG VPVPFPIPEP DGCKSGINCP IQKDKTYSYL NKLPVKSEYP SIKLVVEWQL QDDKNQSLFC WEIPVQIMFP CLFSAHCPML ATEHRCLQLQ METKSLRFWS RRGMSVWLPS PAGAWRRTAP F //