Names & Taxonomy
- Uniprot ID:
- O15118
- Entry Name:
- NPC1_HUMAN
- Status:
- reviewed
- Protein Names:
- Niemann-Pick C1 protein
- Gene Names:
- NPC1
- Gene Names Primary:
- NPC1
- Organism:
- Homo sapiens (Human)
Structure
- Length:
- 1278
- Sequence:
- MTARGLALGLLLLLLCPAQVFSQSCVWYGECGIAYGDKRYNCEYSGPPKPLPKDGYDLVQELCPGFFFGNVSLCCDVRQLQTLKDNLQLPLQFLSRCPSCFYNLLNLFCELTCSPRQSQFLNVTATEDYVDPVTNQTKTNVKELQYYVGQSFANAMYNACRDVEAPSSNDKALGLLCGKDADACNATNWIEYMFNKDNGQAPFTITPVFSDFPVHGMEPMNNATKGCDESVDEVTAPCSCQDCSIVCGPKPQPPPPPAPWTILGLDAMYVIMWITYMAFLLVFFGAFFAVWCYRKRYFVSEYTPIDSNIAFSVNASDKGEASCCDPVSAAFEGCLRRLFTRWGSFCVRNPGCVIFFSLVFITACSSGLVFVRVTTNPVDLWSAPSSQARLEKEYFDQHFGPFFRTEQLIIRAPLTDKHIYQPYPSGADVPFGPPLDIQILHQVLDLQIAIENITASYDNETVTLQDICLAPLSPYNTNCTILSVLNYFQNSHSVLDHKKGDDFFVYADYHTHFLYCVRAPASLNDTSLLHDPCLGTFGGPVFPWLVLGGYDDQNYNNATALVITFPVNNYYNDTEKLQRAQAWEKEFINFVKNYKNPNLTISFTAERSIEDELNRESDSDVFTVVISYAIMFLYISLALGHMKSCRRLLVDSKVSLGIAGILIVLSSVACSLGVFSYIGLPLTLIVIEVIPFLVLAVGVDNIFILVQAYQRDERLQGETLDQQLGRVLGEVAPSMFLSSFSETVAFFLGALSVMPAVHTFSLFAGLAVFIDFLLQITCFVSLLGLDIKRQEKNRLDIFCCVRGAEDGTSVQASESCLFRFFKNSYSPLLLKDWMRPIVIAIFVGVLSFSIAVLNKVDIGLDQSLSMPDDSYMVDYFKSISQYLHAGPPVYFVLEEGHDYTSSKGQNMVCGGMGCNNDSLVQQIFNAAQLDNYTRIGFAPSSWIDDYFDWVKPQSSCCRVDNITDQFCNASVVDPACVRCRPLTPEGKQRPQGGDFMRFLPMFLSDNPNPKCGKGGHAAYSSAVNILLGHGTRVGATYFMTYHTVLQTSADFIDALKKARLIASNVTETMGINGSAYRVFPYSVFYVFYEQYLTIIDDTIFNLGVSLGAIFLVTMVLLGCELWSAVIMCATIAMVLVNMFGVMWLWGISLNAVSLVNLVMSCGISVEFCSHITRAFTVSMKGSRVERAEEALAHMGSSVFSGITLTKFGGIVVLAFAKSQIFQIFYFRMYLAMVLLGATHGLIFLPVLLSYIGPSVNKAKSCATEERYKGTERERLLNF
- Proteomes:
- UP000005640
Subcellular location
- Subcellular Location:
- Late endosome membrane
Function
- Function:
- 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.
- Gene Ontology Go:
- endoplasmic reticulum
extracellular exosome
extracellular region
Golgi apparatus
integral component of membrane
integral component of plasma membrane
late endosome membrane
lysosomal membrane
lysosome
membrane
membrane raft
nuclear envelope
perinuclear region of cytoplasm
cholesterol binding
hedgehog receptor activity
receptor activity
sterol transporter activity
transmembrane signaling receptor activity
virus receptor activity
adult walking behavior
autophagy
bile acid metabolic process
cellular response to low-density lipoprotein particle stimulus
cellular response to steroid hormone stimulus
cholesterol efflux
cholesterol homeostasis
cholesterol metabolic process
cholesterol transport
endocytosis
establishment of protein localization to membrane
lysosomal transport
membrane raft organization
negative regulation of cell death
negative regulation of macroautophagy
positive regulation of cholesterol homeostasis
protein glycosylation
response to cadmium ion
response to drug
signal transduction
viral entry into host cell - Gene Ontology Biological Process:
- adult walking behavior
autophagy
bile acid metabolic process
cellular response to low-density lipoprotein particle stimulus
cellular response to steroid hormone stimulus
cholesterol efflux
cholesterol homeostasis
cholesterol metabolic process
cholesterol transport
endocytosis
establishment of protein localization to membrane
lysosomal transport
membrane raft organization
negative regulation of cell death
negative regulation of macroautophagy
positive regulation of cholesterol homeostasis
protein glycosylation
response to cadmium ion
response to drug
signal transduction
viral entry into host cell - Gene Ontology Molecular Function:
- cholesterol binding
hedgehog receptor activity
receptor activity
sterol transporter activity
transmembrane signaling receptor activity
virus receptor activity - Gene Ontology Cellular Component:
- endoplasmic reticulum
extracellular exosome
extracellular region
Golgi apparatus
integral component of membrane
integral component of plasma membrane
late endosome membrane
lysosomal membrane
lysosome
membrane
membrane raft
nuclear envelope
perinuclear region of cytoplasm - Keywords:
- 3D-structure
Alternative splicing
Cholesterol metabolism
Complete proteome
Disease mutation
Disulfide bond
Endosome
Glycoprotein
Host cell receptor for virus entry
Host-virus interaction
Lipid metabolism
Lysosome
Membrane
Niemann-Pick disease
Polymorphism
Receptor
Reference proteome
Signal
Steroid metabolism
Sterol metabolism
Transmembrane
Transmembrane helix
Publication
- PubMed ID:
- 9211849 10425213 11754101 14702039 16177791 15489334 9927649 10821832 17897319 18772377 19583955 19159218 18832164 20674853 21269460 21412152 21866103 25855742 25944712 19563754 9634529 10521290 10521297 10480349 11182931 11349231 11333381 11545687 11479732 12408188 12401890 12554680 12955717 16098014 15774455 16126423 16802107 23453666