Names & Taxonomy
- Uniprot ID:
- Q9UHC9
- Entry Name:
- NPCL1_HUMAN
- Status:
- reviewed
- Protein Names:
- Niemann-Pick C1-like protein 1
- Gene Names:
- NPC1L1
- Gene Names Primary:
- NPC1L1
- Organism:
- Homo sapiens (Human)
Structure
- Length:
- 1359
- Sequence:
- MAEAGLRGWLLWALLLRLAQSEPYTTIHQPGYCAFYDECGKNPELSGSLMTLSNVSCLSNTPARKITGDHLILLQKICPRLYTGPNTQACCSAKQLVSLEASLSITKALLTRCPACSDNFVNLHCHNTCSPNQSLFINVTRVAQLGAGQLPAVVAYEAFYQHSFAEQSYDSCSRVRVPAAATLAVGTMCGVYGSALCNAQRWLNFQGDTGNGLAPLDITFHLLEPGQAVGSGIQPLNEGVARCNESQGDDVATCSCQDCAASCPAIARPQALDSTFYLGQMPGSLVLIIILCSVFAVVTILLVGFRVAPARDKSKMVDPKKGTSLSDKLSFSTHTLLGQFFQGWGTWVASWPLTILVLSVIPVVALAAGLVFTELTTDPVELWSAPNSQARSEKAFHDQHFGPFFRTNQVILTAPNRSSYRYDSLLLGPKNFSGILDLDLLLELLELQERLRHLQVWSPEAQRNISLQDICYAPLNPDNTSLYDCCINSLLQYFQNNRTLLLLTANQTLMGQTSQVDWKDHFLYCANAPLTFKDGTALALSCMADYGAPVFPFLAIGGYKGKDYSEAEALIMTFSLNNYPAGDPRLAQAKLWEEAFLEEMRAFQRRMAGMFQVTFMAERSLEDEINRTTAEDLPIFATSYIVIFLYISLALGSYSSWSRVMVDSKATLGLGGVAVVLGAVMAAMGFFSYLGIRSSLVILQVVPFLVLSVGADNIFIFVLEYQRLPRRPGEPREVHIGRALGRVAPSMLLCSLSEAICFFLGALTPMPAVRTFALTSGLAVILDFLLQMSAFVALLSLDSKRQEASRLDVCCCVKPQELPPPGQGEGLLLGFFQKAYAPFLLHWITRGVVLLLFLALFGVSLYSMCHISVGLDQELALPKDSYLLDYFLFLNRYFEVGAPVYFVTTLGYNFSSEAGMNAICSSAGCNNFSFTQKIQYATEFPEQSYLAIPASSWVDDFIDWLTPSSCCRLYISGPNKDKFCPSTVNSLNCLKNCMSITMGSVRPSVEQFHKYLPWFLNDRPNIKCPKGGLAAYSTSVNLTSDGQVLDTVAILSPRLEYSGTISAHCNLYLLDSTSRFMAYHKPLKNSQDYTEALRAARELAANITADLRKVPGTDPAFEVFPYTITNVFYEQYLTILPEGLFMLSLCLVPTFAVSCLLLGLDLRSGLLNLLSIVMILVDTVGFMALWGISYNAVSLINLVSAVGMSVEFVSHITRSFAISTKPTWLERAKEATISMGSAVFAGVAMTNLPGILVLGLAKAQLIQIFFFRLNLLITLLGLLHGLVFLPVILSYVGPDVNPALALEQKRAEEAVAAVMVASCPNHPSRVSTADNIYVNHSFEGSIKGAGAISNFLPNNGRQF
- Proteomes:
- UP000005640
Subcellular location
- Subcellular Location:
- Apical cell membrane
Function
- Function:
- Plays a major role in cholesterol homeostasis. Is critical for the uptake of cholesterol across the plasma membrane of the intestinal enterocyte. Is the direct molecular target of ezetimibe, a drug that inhibits cholesterol absorption. Lack of activity leads to multiple lipid transport defects. The protein may have a function in the transport of multiple lipids and their homeostasis, and may play a critical role in regulating lipid metabolism. Acts as a negative regulator of NPC2 and down-regulates its expression and secretion by inhibiting its maturation and accelerating its degradation.
- Cross Reference Drug Bank:
- DB00973
- Gene Ontology Go:
- apical plasma membrane
brush border membrane
cytoplasmic vesicle membrane
integral component of membrane
plasma membrane
drug binding
hedgehog receptor activity
myosin V binding
Rab GTPase binding
cholesterol biosynthetic process
cholesterol transport
intestinal cholesterol absorption
lipoprotein metabolic process
response to drug
small molecule metabolic process
sterol transport - Gene Ontology Biological Process:
- cholesterol biosynthetic process
cholesterol transport
intestinal cholesterol absorption
lipoprotein metabolic process
response to drug
small molecule metabolic process
sterol transport - Gene Ontology Molecular Function:
- drug binding
hedgehog receptor activity
myosin V binding
Rab GTPase binding - Gene Ontology Cellular Component:
- apical plasma membrane
brush border membrane
cytoplasmic vesicle membrane
integral component of membrane
plasma membrane - Keywords:
- 3D-structure
Alternative splicing
Cell membrane
Cholesterol metabolism
Complete proteome
Cytoplasmic vesicle
Disulfide bond
Glycoprotein
Lipid metabolism
Membrane
Polymorphism
Reference proteome
Signal
Steroid metabolism
Sterol metabolism
Transmembrane
Transmembrane helix