NPC1L1
entrez
29881
canonical
uniprot
Q9UHC9
canonical
ensembl
ENSG00000015520
resolver
ensp
ENSP00000289547
resolver
ensp
ENSP00000370552
resolver
ensp
ENSP00000404670
resolver
ensp
ENSP00000535364
resolver
ensp
ENSP00000657117
resolver
enst
ENST00000381160
resolver
genesymbol
NPC1L1
resolver
hgnc
HGNC:7898
resolver
uniprot
A0A0C4DFX6
resolver
uniprot
A4D2J7
resolver
uniprot
B7ZLE6
resolver
uniprot
D3DVK9
resolver
uniprot
Q17RV5
resolver
uniprot
Q6R3Q4
resolver
uniprot
Q9UHC8
resolver
uniprot_entry
A0A0C4DFX6_HUMAN
resolver
uniprot_entry
NPCL1_HUMAN
resolver
uniprot_sec
A4D2J7
resolver
uniprot_sec
B7ZLE6
resolver
uniprot_sec
D3DVK9
resolver
uniprot_sec
Q17RV5
resolver
uniprot_sec
Q6R3Q4
resolver
uniprot_sec
Q9UHC8
resolver
amino_acid_sequence
MAEAGLRGWLLWALLLRLAQSEPYTTIHQPGYCAFYDECGKNPELSGSLMTLSNVSCLSNTPARKITGDHLILLQKICPRLYTGPNTQACCSAKQLVSLEASLSITKALLTRCPACSDNFVNLHCHNTCSPNQSLFINVTRVAQLGAGQLPAVVAYEAFYQHSFAEQSYDSCSRVRVPAAATLAVGTMCGVYGSALCNAQRWLNFQGDTGNGLAPLDITFHLLEPGQAVGSGIQPLNEGVARCNESQGDDVATCSCQDCAASCPAIARPQALDSTFYLGQMPGSLVLIIILCSVFAVVTILLVGFRVAPARDKSKMVDPKKGTSLSDKLSFSTHTLLGQFFQGWGTWVASWPLTILVLSVIPVVALAAGLVFTELTTDPVELWSAPNSQARSEKAFHDQHFGPFFRTNQVILTAPNRSSYRYDSLLLGPKNFSGILDLDLLLELLELQERLRHLQVWSPEAQRNISLQDICYAPLNPDNTSLYDCCINSLLQYFQNNRTLLLLTANQTLMGQTSQVDWKDHFLYCANAPLTFKDGTALALSCMADYGAPVFPFLAIGGYKGKDYSEAEALIMTFSLNNYPAGDPRLAQAKLWEEAFLEEMRAFQRRMAGMFQVTFMAERSLEDEINRTTAEDLPIFATSYIVIFLYISLALGSYSSWSRVMVDSKATLGLGGVAVVLGAVMAAMGFFSYLGIRSSLVILQVVPFLVLSVGADNIFIFVLEYQRLPRRPGEPREVHIGRALGRVAPSMLLCSLSEAICFFLGALTPMPAVRTFALTSGLAVILDFLLQMSAFVALLSLDSKRQEASRLDVCCCVKPQELPPPGQGEGLLLGFFQKAYAPFLLHWITRGVVLLLFLALFGVSLYSMCHISVGLDQELALPKDSYLLDYFLFLNRYFEVGAPVYFVTTLGYNFSSEAGMNAICSSAGCNNFSFTQKIQYATEFPEQSYLAIPASSWVDDFIDWLTPSSCCRLYISGPNKDKFCPSTVNSLNCLKNCMSITMGSVRPSVEQFHKYLPWFLNDRPNIKCPKGGLAAYSTSVNLTSDGQVLDTVAILSPRLEYSGTISAHCNLYLLDSTSRFMAYHKPLKNSQDYTEALRAARELAANITADLRKVPGTDPAFEVFPYTITNVFYEQYLTILPEGLFMLSLCLVPTFAVSCLLLGLDLRSGLLNLLSIVMILVDTVGFMALWGISYNAVSLINLVSAVGMSVEFVSHITRSFAISTKPTWLERAKEATISMGSAVFAGVAMTNLPGILVLGLAKAQLIQIFFFRLNLLITLLGLLHGLVFLPVILSYVGPDVNPALALEQKRAEEAVAAVMVASCPNHPSRVSTADNIYVNHSFEGSIKGAGAISNFLPNNGRQF
uniprot
proteins
function
FUNCTION: Plays a major role in cholesterol homeostasis (PubMed:22095670). Critical for the uptake of cholesterol across the plasma membrane of the intestinal enterocyte (PubMed:22095670). Involved in plant sterol absorption, it transports sitosterol, although at lower rates than cholesterol (By similarity). Is the direct molecular target of ezetimibe, a drug that inhibits cholesterol absorption and is approved for the treatment of hypercholesterolemia (PubMed:15928087). May have a function in the transport of multiple lipids and their homeostasis, thereby influencing lipid metabolism regulation (PubMed:15671032). May be involved in caveolin trafficking from the plasma membrane (By similarity). In addition, acts as a negative regulator of NPC2 and down-regulates its expression and secretion by inhibiting its maturation and accelerating its degradation (PubMed:22095670). {ECO:0000250|UniProtKB:Q6T3U3, ECO:0000250|UniProtKB:Q6T3U4, ECO:0000269|PubMed:15928087, ECO:0000269|PubMed:22095670, ECO:0000305|PubMed:15671032}.
uniprot
proteins
mass_dalton
148728
uniprot
proteins
mutagenesis
MUTAGEN 1300..1303; /note="LALE->AAAA: Does not affect interaction with LIMA1."; /evidence="ECO:0000269|PubMed:29880681"; MUTAGEN 1304..1306; /note="QKR->AAA: Abolishes interaction with LIMA1."; /evidence="ECO:0000269|PubMed:29880681"; MUTAGEN 1308..1309; /note="EE->AA: Does not affect interaction with LIMA1."; /evidence="ECO:0000269|PubMed:29880681
uniprot
proteins
post_translational_modification
PTM: Highly glycosylated. {ECO:0000250}.
uniprot
proteins
protein_family
Patched family
uniprot
proteins
pubmed
10783261
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14976318
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15604518
uniprot
proteins
pubmed
15671032
uniprot
proteins
pubmed
15679830
uniprot
proteins
pubmed
15928087
uniprot
proteins
pubmed
19325169
uniprot
proteins
pubmed
19542231
uniprot
proteins
pubmed
21525977
uniprot
proteins
pubmed
22095670
uniprot
proteins
pubmed
25390462
uniprot
proteins
pubmed
29880681
uniprot
proteins
sequence_length
1359
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:15671032}; Multi-pass membrane protein {ECO:0000269|PubMed:15671032}. Cell membrane {ECO:0000250|UniProtKB:Q6T3U3}; Multi-pass membrane protein {ECO:0000250}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:15671032}; Multi-pass membrane protein {ECO:0000269|PubMed:15671032}. Note=Subfractionation of brush border membranes from proximal enterocytes suggests considerable association with the apical membrane fraction. Exists as a predominantly cell surface membrane expressed protein (By similarity). According to PubMed:15671032, localizes in a subcellular vesicular compartment rich in RAB5. {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 285..305; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 352..372; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 633..653; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 667..687; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 697..717; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 743..763; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 777..797; /note="Helical; Name=7"; /evidence="ECO:0000255"; TRANSMEM 847..867; /note="Helical; Name=8"; /evidence="ECO:0000255"; TRANSMEM 1140..1160; /note="Helical; Name=9"; /evidence="ECO:0000255"; TRANSMEM 1169..1189; /note="Helical; Name=10"; /evidence="ECO:0000255"; TRANSMEM 1192..1212; /note="Helical; Name=11"; /evidence="ECO:0000255"; TRANSMEM 1237..1257; /note="Helical; Name=12"; /evidence="ECO:0000255"; TRANSMEM 1269..1289; /note="Helical; Name=13"; /evidence="ECO:0000255
uniprot
proteins