CPLM 1.0 - Compendium of Protein Lysine Modification
TagContent
CPLM ID CPLM-000600
UniProt Accession
Genbank Protein ID
Genbank Nucleotide ID
Protein Name
 Niemann-Pick C1 protein 
Protein Synonyms/Alias
  
Gene Name
 Npc1 
Gene Synonyms/Alias
  
Created Date
 July 27, 2013 
Organism
 Mus musculus (Mouse) 
NCBI Taxa ID
 10090 
Lysine Modification
Position
Peptide
Type
References
1179RAFTMSTKGSRVSRAubiquitination[1]
Reference
 [1] Proteomic analyses reveal divergent ubiquitylation site patterns in murine tissues.
 Wagner SA, Beli P, Weinert BT, Schölz C, Kelstrup CD, Young C, Nielsen ML, Olsen JV, Brakebusch C, Choudhary C.
 Mol Cell Proteomics. 2012 Dec;11(12):1578-85. [PMID: 22790023] 
Functional Description
 Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment. Both NPC1 and NPC2 function as the cellular 'tag team duo' (TTD) to catalyze the mobilization of cholesterol within the multivesicular environment of the late endosome (LE) to effect egress through the limiting bilayer of the LE. NPC2 binds unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes and transfers it to the cholesterol-binding pocket of the N-terminal domain of NPC1. Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket and is exported from the limiting membrane of late endosomes/ lysosomes to the ER and plasma membrane by an unknown mechanism. Binds oxysterol with higher affinity than cholesterol. May play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural and functional integrity of nerve terminals. 
Sequence Annotation
 DOMAIN 620 785 SSD.
 MOTIF 1274 1277 Di-leucine motif.
 CARBOHYD 70 70 N-linked (GlcNAc...) (Potential).
 CARBOHYD 122 122 N-linked (GlcNAc...) (Potential).
 CARBOHYD 137 137 N-linked (GlcNAc...) (Potential).
 CARBOHYD 185 185 N-linked (GlcNAc...) (Potential).
 CARBOHYD 222 222 N-linked (GlcNAc...) (Potential).
 CARBOHYD 228 228 N-linked (GlcNAc...) (Potential).
 CARBOHYD 414 414 N-linked (GlcNAc...) (Potential).
 CARBOHYD 459 459 N-linked (GlcNAc...) (Potential).
 CARBOHYD 478 478 N-linked (GlcNAc...) (Potential).
 CARBOHYD 524 524 N-linked (GlcNAc...) (Potential).
 CARBOHYD 868 868 N-linked (GlcNAc...) (Potential).
 CARBOHYD 898 898 N-linked (GlcNAc...) (Potential).
 CARBOHYD 916 916 N-linked (GlcNAc...) (Potential).
 CARBOHYD 961 961 N-linked (GlcNAc...) (Potential).
 CARBOHYD 968 968 N-linked (GlcNAc...) (Potential).
 CARBOHYD 1063 1063 N-linked (GlcNAc...) (Potential).  
Keyword
 Cholesterol metabolism; Complete proteome; Endosome; Glycoprotein; Lipid metabolism; Lysosome; Membrane; Reference proteome; Signal; Steroid metabolism; Sterol metabolism; Transmembrane; Transmembrane helix. 
Sequence Source
 UniProt (SWISSPROT/TrEMBL); GenBank; EMBL 
Protein Length
 1277 AA 
Protein Sequence
MGAHHPALGL LLLLLCPAQV FSQSCVWYGE CGIATGDKRY NCKYSGPPKP LPKDGYDLVQ 60
ELCPGLFFDN VSLCCDIQQL QTLKSNLQLP LQFLSRCPSC FYNLMTLFCE LTCSPHQSQF 120
LNVTATEDYF DPKTQENKTN VKELEYFVGQ SFANAMYNAC RDVEAPSSNE KALGLLCGRD 180
ARACNATNWI EYMFNKDNGQ APFTIIPVFS DLSILGMEPM RNATKGCNES VDEVTGPCSC 240
QDCSIVCGPK PQPPPPPMPW RIWGLDAMYV IMWVTYVAFL FVFFGALLAV WCHRRRYFVS 300
EYTPIDSNIA FSVNSSDKGE ASCCDPLGAA FDDCLRRMFT KWGAFCVRNP TCIIFFSLAF 360
ITVCSSGLVF VQVTTNPVEL WSAPHSQARL EKEYFDKHFG PFFRTEQLII QAPNTSVHIY 420
EPYPAGADVP FGPPLNKEIL HQVLDLQIAI ESITASYNNE TVTLQDICVA PLSPYNKNCT 480
IMSVLNYFQN SHAVLDSQVG DDFYIYADYH THFLYCVRAP ASLNDTSLLH GPCLGTFGGP 540
VFPWLVLGGY DDQNYNNATA LVITFPVNNY YNDTERLQRA WAWEKEFISF VKNYKNPNLT 600
ISFTAERSIE DELNRESNSD VFTVIISYVV MFLYISLALG HIQSCSRLLV DSKISLGIAG 660
ILIVLSSVAC SLGIFSYMGM PLTLIVIEVI PFLVLAVGVD NIFILVQTYQ RDERLQEETL 720
DQQLGRILGE VAPTMFLSSF SETSAFFFGA LSSMPAVHTF SLFAGMAVLI DFLLQITCFV 780
SLLGLDIKRQ EKNHLDILCC VRGADDGQGS HASESYLFRF FKNYFAPLLL KDWLRPIVVA 840
VFVGVLSFSV AVVNKVDIGL DQSLSMPNDS YVIDYFKSLA QYLHSGPPVY FVLEEGYNYS 900
SRKGQNMVCG GMGCDNDSLV QQIFNAAELD TYTRVGFAPS SWIDDYFDWV SPQSSCCRLY 960
NVTHQFCNAS VMDPTCVRCR PLTPEGKQRP QGKEFMKFLP MFLSDNPNPK CGKGGHAAYG 1020
SAVNIVGDDT YIGATYFMTY HTILKTSADY TDAMKKARLI ASNITETMRS KGSDYRVFPY 1080
SVFYVFYEQY LTIIDDTIFN LSVSLGSIFL VTLVVLGCEL WSAVIMCITI AMILVNMFGV 1140
MWLWGISLNA VSLVNLVMSC GISVEFCSHI TRAFTMSTKG SRVSRAEEAL AHMGSSVFSG 1200
ITLTKFGGIV VLAFAKSQIF EIFYFRMYLA MVLLGATHGL IFLPVLLSYI GPSVNKAKRH 1260
TTYERYRGTE RERLLNF 1277 
Gene Ontology
 GO:0005783; C:endoplasmic reticulum; ISS:UniProtKB.
 GO:0005768; C:endosome; IDA:MGI.
 GO:0005576; C:extracellular region; IDA:UniProtKB.
 GO:0005794; C:Golgi apparatus; IDA:MGI.
 GO:0005887; C:integral to plasma membrane; ISS:UniProtKB.
 GO:0031902; C:late endosome membrane; IEA:UniProtKB-SubCell.
 GO:0005765; C:lysosomal membrane; IEA:UniProtKB-SubCell.
 GO:0005764; C:lysosome; IDA:UniProtKB.
 GO:0045121; C:membrane raft; IDA:MGI.
 GO:0005635; C:nuclear envelope; ISS:UniProtKB.
 GO:0048471; C:perinuclear region of cytoplasm; ISS:UniProtKB.
 GO:0031982; C:vesicle; IDA:MGI.
 GO:0015485; F:cholesterol binding; ISS:UniProtKB.
 GO:0008158; F:hedgehog receptor activity; IEA:InterPro.
 GO:0007628; P:adult walking behavior; IGI:MGI.
 GO:0006914; P:autophagy; ISO:MGI.
 GO:0008206; P:bile acid metabolic process; ISS:UniProtKB.
 GO:0071404; P:cellular response to low-density lipoprotein particle stimulus; IDA:MGI.
 GO:0071383; P:cellular response to steroid hormone stimulus; IDA:MGI.
 GO:0033344; P:cholesterol efflux; IMP:MGI.
 GO:0042632; P:cholesterol homeostasis; ISS:UniProtKB.
 GO:0008203; P:cholesterol metabolic process; IEA:UniProtKB-KW.
 GO:0006897; P:endocytosis; IMP:MGI.
 GO:0007041; P:lysosomal transport; ISS:UniProtKB.
 GO:0016242; P:negative regulation of macroautophagy; IMP:MGI.
 GO:0006486; P:protein glycosylation; IDA:UniProtKB.
 GO:0042493; P:response to drug; IDA:MGI. 
Interpro
 IPR004765; NP_C_type.
 IPR003392; Patched.
 IPR000731; SSD. 
Pfam
 PF02460; Patched 
SMART
  
PROSITE
 PS50156; SSD 
PRINTS