| Name |
Niemann-Pick C1-like protein 1 |
| Synonyms |
2547 |
| Gene name |
NPC1L1 |
| General function |
Involved in hedgehog receptor activity |
| Specific function |
Play 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 absorbtion. 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 |
| Gene sequence |
+ ...
ATGGCGGAGGCCGGCCTGAGGGGCTGGCTGCTGTGGGCCCTGCTCCTGCGCTTGGCCCAGAGTGAGCCTTACACAACCATCCACCAGCCTGGCTACTGCGCCTTCTATGACGAATGTGGGAAGAACCCAGAGCTGTCTGGAAGCCTCATGACACTCTCCAACGTGTCCTGCCTGTCCAACACGCCGGCCCGCAAGATCACAGGTGATCACCTGATCCTATTACAGAAGATCTGCCCCCGCCTCTACACCGGCCCCAACACCCAAGCCTGCTGCTCCGCCAAGCAGCTGGTATCACTGGAAGCGAGTCTGTCGATCACCAAGGCCCTCCTCACCCGCTGCCCAGCCTGCTCTGACAATTTTGTGAACCTGCACTGCCACAACACGTGCAGCCCCAATCAGAGCCTCTTCATCAATGTGACCCGCGTGGCCCAGCTAGGGGCTGGACAACTCCCAGCTGTGGTGGCCTATGAGGCCTTCTACCAGCATAGCTTTGCCGAGCAGAGCTATGACTCCTGCAGCCGTGTGCGCGTCCCTGCAGCTGCCACGCTGGCTGTGGGCACCATGTGTGGCGTGTATGGCTCTGCCCTTTGCAATGCCCAGCGCTGGCTCAACTTCCAGGGAGACACAGGCAATGGTCTGGCCCCACTGGACATCACCTTCCACCTCTTGGAGCCTGGCCAGGCCGTGGGGAGTGGGATTCAGCCTCTGAATGAGGGGGTTGCACGTTGCAATGAGTCCCAAGGTGACGACGTGGCGACCTGCTCCTGCCAAGACTGTGCTGCATCCTGTCCTGCCATAGCCCGCCCCCAGGCCCTCGACTCCACCTTCTACCTGGGCCAGATGCCGGGCAGTCTGGTCCTCATCATCATCCTCTGCTCTGTCTTCGCTGTGGTCACCATCCTGCTTGTGGGATTCCGTGTGGCCCCCGCCAGGGACAAAAGCAAGATGGTGGACCCCAAGAAGGGCACCAGCCTCTCTGACAAGCTCAGCTTCTCCACCCACACCCTCCTTGGCCAGTTCTTCCAGGGCTGGGGCACGTGGGTGGCTTCGTGGCCTCTGACCATCTTGGTGCTATCTGTCATCCCGGTGGTGGCCTTGGCAGCGGGCCTGGTCTTTACAGAACTCACTACGGACCCCGTGGAGCTGTGGTCGGCCCCCAACAGCCAAGCCCGGAGTGAGAAAGCTTTCCATGACCAGCATTTCGGCCCCTTCTTCCGAACCAACCAGGTGATCCTGACGGCTCCTAACCGGTCCAGCTACAGGTATGACTCTCTGCTGCTGGGGCCCAAGAACTTCAGCGGAATCCTGGACCTGGACTTGCTGCTGGAGCTGCTAGAGCTGCAGGAGAGGCTGCGGCACCTCCAGGTATGGTCGCCCGAAGCACAGCGCAACATCTCCCTGCAGGACATCTGCTACGCCCCCCTCAATCCGGACAATACCAGTCTCTACGACTGCTGCATCAACAGCCTCCTGCAGTATTTCCAGAACAACCGCACGCTCCTGCTGCTCACAGCCAACCAGACACTGATGGGGCAGACCTCCCAAGTCGACTGGAAGGACCATTTTCTGTACTGTGCCAATGCCCCGCTCACCTTCAAGGATGGCACAGCCCTGGCCCTGAGCTGCATGGCTGACTACGGGGCCCCTGTCTTCCCCTTCCTTGCCATTGGGGGGTACAAAGGAAAGGACTATTCTGAGGCAGAGGCCCTGATCATGACGTTCTCCCTCAACAATTACCCTGCCGGGGACCCCCGTCTGGCCCAGGCCAAGCTGTGGGAGGAGGCCTTCTTAGAGGAAATGCGAGCCTTCCAGCGTCGGATGGCTGGCATGTTCCAGGTCACGTTCATGGCTGAGCGCTCTCTGGAAGACGAGATCAATCGCACCACAGCTGAAGACCTGCCCATCTTTGCCACCAGCTACATTGTCATATTCCTGTACATCTCTCTGGCCCTGGGCAGCTATTCCAGCTGGAGCCGAGTGATGGTGGACTCCAAGGCCACGCTGGGCCTCGGCGGGGTGGCCGTGGTCCTGGGAGCAGTCATGGCTGCCATGGGCTTCTTCTCCTACTTGGGTATCCGCTCCTCCCTGGTCATCCTGCAAGTGGTTCCTTTCCTGGTGCTGTCCGTGGGGGCTGATAACATCTTCATCTTTGTTCTCGAGTACCAGAGGCTGCCCCGGAGGCCTGGGGAGCCACGAGAGGTCCACATTGGGCGAGCCCTAGGCAGGGTGGCTCCCAGCATGCTGTTGTGCAGCCTCTCTGAGGCCATCTGCTTCTTCCTAGGGGCCCTGACCCCCATGCCAGCTGTGCGGACCTTTGCCCTGACCTCTGGCCTTGCAGTGATCCTTGACTTCCTCCTGCAGATGTCAGCCTTTGTGGCCCTGCTCTCCCTGGACAGCAAGAGGCAGGAGGCCTCCCGGTTGGACGTCTGCTGCTGTGTCAAGCCCCAGGAGCTGCCCCCGCCTGGCCAGGGAGAGGGGCTCCTGCTTGGCTTCTTCCAAAAGGCTTATGCCCCCTTCCTGCTGCACTGGATCACTCGAGGTGTTGTGCTGCTGCTGTTTCTCGCCCTGTTCGGAGTGAGCCTCTACTCCATGTGCCACATCAGCGTGGGACTGGACCAGGAGCTGGCCCTGCCCAAGGACTCGTACCTGCTTGACTATTTCCTCTTTCTGAACCGCTACTTCGAGGTGGGGGCCCCGGTGTACTTTGTTACCACCTTGGGCTACAACTTCTCCAGCGAGGCTGGGATGAATGCCATCTGCTCCAGTGCAGGCTGCAACAACTTCTCCTTCACCCAGAAGATCCAGTATGCCACAGAGTTCCCTGAGCAGTCTTACCTGGCCATCCCTGCCTCCTCCTGGGTGGATGACTTCATTGACTGGCTGACCCCGTCCTCCTGCTGCCGCCTTTATATATCTGGCCCCAATAAGGACAAGTTCTGCCCCTCGACCGTCAACTCTCTGAACTGCCTAAAGAACTGCATGAGCATCACGATGGGCTCTGTGAGGCCCTCGGTGGAGCAGTTCCATAAGTATCTTCCCTGGTTCCTGAACGACCGGCCCAACATCAAATGTCCCAAAGGCGGCCTGGCAGCATACAGCACCTCTGTGAACTTGACTTCAGATGGCCAGGTTTTAGACACAGTTGCCATTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCTGGATTCAGCCTCCAGGTTCATGGCCTATCACAAGCCCCTGAAAAACTCACAGGATTACACAGAAGCTCTGCGGGCAGCTCGAGAGCTGGCAGCCAACATCACTGCTGACCTGCGGAAAGTGCCTGGAACAGACCCGGCTTTTGAGGTCTTCCCCTACACGATCACCAATGTGTTTTATGAGCAGTACCTGACCATCCTCCCTGAGGGGCTCTTCATGCTCAGCCTCTGCCTTGTGCCCACCTTCGCTGTCTCCTGCCTCCTGCTGGGCCTGGACCTGCGCTCCGGCCTCCTCAACCTGCTCTCCATTGTCATGATCCTCGTGGACACTGTCGGCTTCATGGCCCTGTGGGGCATCAGTTACAATGCTGTGTCCCTCATCAACCTGGTCTCGGCGGTGGGCATGTCTGTGGAGTTTGTGTCCCACATTACCCGCTCCTTTGCCATCAGCACCAAGCCCACCTGGCTGGAGAGGGCCAAAGAGGCCACCATCTCTATGGGAAGTGCGGTGTTTGCAGGTGTGGCCATGACCAACCTGCCTGGCATCCTTGTCCTGGGCCTCGCCAAGGCCCAGCTCATTCAGATCTTCTTCTTCCGCCTCAACCTCCTGATCACTCTGCTGGGCCTGCTGCATGGCTTGGTCTTCCTGCCCGTCATCCTCAGCTACGTGGGGCCTGACGTTAACCCGGCTCTGGCACTGGAGCAGAAGCGGGCTGAGGAGGCGGTGGCAGCAGTCATGGTGGCCTCTTGCCCAAATCACCCCTCCCGAGTCTCCACAGCTGACAACATCTATGTCAACCACAGCTTTGAAGGTTCTATCAAAGGTGCTGGTGCCATCAGCAACTTCTTGCCCAACAATGGGCGGCAGTTCTGA
|
| Protein sequence |
+ ...
MAEAGLRGWLLWALLLRLAQSEPYTTIHQPGYCAFYDECGKNPELSGSLMTLSNVSCLSNTPARKITGDHLILLQKICPRLYTGPNTQACCSAKQLVSLEASLSITKALLTRCPACSDNFVNLHCHNTCSPNQSLFINVTRVAQLGAGQLPAVVAYEAFYQHSFAEQSYDSCSRVRVPAAATLAVGTMCGVYGSALCNAQRWLNFQGDTGNGLAPLDITFHLLEPGQAVGSGIQPLNEGVARCNESQGDDVATCSCQDCAASCPAIARPQALDSTFYLGQMPGSLVLIIILCSVFAVVTILLVGFRVAPARDKSKMVDPKKGTSLSDKLSFSTHTLLGQFFQGWGTWVASWPLTILVLSVIPVVALAAGLVFTELTTDPVELWSAPNSQARSEKAFHDQHFGPFFRTNQVILTAPNRSSYRYDSLLLGPKNFSGILDLDLLLELLELQERLRHLQVWSPEAQRNISLQDICYAPLNPDNTSLYDCCINSLLQYFQNNRTLLLLTANQTLMGQTSQVDWKDHFLYCANAPLTFKDGTALALSCMADYGAPVFPFLAIGGYKGKDYSEAEALIMTFSLNNYPAGDPRLAQAKLWEEAFLEEMRAFQRRMAGMFQVTFMAERSLEDEINRTTAEDLPIFATSYIVIFLYISLALGSYSSWSRVMVDSKATLGLGGVAVVLGAVMAAMGFFSYLGIRSSLVILQVVPFLVLSVGADNIFIFVLEYQRLPRRPGEPREVHIGRALGRVAPSMLLCSLSEAICFFLGALTPMPAVRTFALTSGLAVILDFLLQMSAFVALLSLDSKRQEASRLDVCCCVKPQELPPPGQGEGLLLGFFQKAYAPFLLHWITRGVVLLLFLALFGVSLYSMCHISVGLDQELALPKDSYLLDYFLFLNRYFEVGAPVYFVTTLGYNFSSEAGMNAICSSAGCNNFSFTQKIQYATEFPEQSYLAIPASSWVDDFIDWLTPSSCCRLYISGPNKDKFCPSTVNSLNCLKNCMSITMGSVRPSVEQFHKYLPWFLNDRPNIKCPKGGLAAYSTSVNLTSDGQVLDTVAILSPRLEYSGTISAHCNLYLLDSASRFMAYHKPLKNSQDYTEALRAARELAANITADLRKVPGTDPAFEVFPYTITNVFYEQYLTILPEGLFMLSLCLVPTFAVSCLLLGLDLRSGLLNLLSIVMILVDTVGFMALWGISYNAVSLINLVSAVGMSVEFVSHITRSFAISTKPTWLERAKEATISMGSAVFAGVAMTNLPGILVLGLAKAQLIQIFFFRLNLLITLLGLLHGLVFLPVILSYVGPDVNPALALEQKRAEEAVAAVMVASCPNHPSRVSTADNIYVNHSFEGSIKGAGAISNFLPNNGRQF
|
| GO Classification |
| component |
| cell |
| intrinsic to membrane |
| integral to membrane |
| membrane |
| function |
| receptor activity |
| transmembrane receptor activity |
| hedgehog receptor activity |
| signal transducer activity |
| process |
| lipid transport |
| sterol transport |
| physiological process |
| cholesterol transport |
| cellular physiological process |
| transport |
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