| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4864 |
Name | NPC1 |
Synonym | NPC;Niemann-Pick disease, type C1;NPC1;Niemann-Pick disease, type C1 |
Definition | Niemann-Pick C1 protein |
Position | 18q11-q12 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | Lysosome;KEGG PATHWAY;hsa04142 |
Disease | Genetic disorders;KEGG DISEASE |
Disease | Alzheimer's disease;GAD |
Disease | Niemann-Pick type C disease;KEGG DISEASE;H00136 |
Disease | Niemann-Pick type C disease;GAD |
Disease | METABOLIC;GAD |
Disease | obesity;GAD |
Disease | Lysosomal storage diseases;KEGG DISEASE |
Disease | NEUROLOGICAL;GAD |
External Links | |
Links to Entrez Gene | 4864 |
Links to all GeneRIF Items | 4864 |
Links to iHOP | 4864 |
Sequence Information | |
Nucleotide Sequence | >4864 : length: 3837 atgaccgctcgcggcctggcccttggcctcctcctgctgctactgtgtccagcgcaggtg ttttcacagtcctgtgtttggtatggagagtgtggaattgcatatggggacaagaggtac aattgcgaatattctggcccaccaaaaccattgccaaaggatggatatgacttagtgcag gaactctgtccaggattcttctttggcaatgtcagtctctgttgtgatgttcggcagctt cagacactaaaagacaacctgcagctgcctctacagtttctgtccagatgtccatcctgt ttttataacctactgaacctgttttgtgagctgacatgtagccctcgacagagtcagttt ttgaatgttacagctactgaagattatgttgatcctgttacaaaccagacgaaaacaaat gtgaaagagttacaatactacgtcggacagagttttgccaatgcaatgtacaatgcctgc cgggatgtggaggccccctcaagtaatgacaaggccctgggactcctgtgtgggaaggac gctgacgcctgtaatgccaccaactggattgaatacatgttcaataaggacaatggacag gcaccttttaccatcactcctgtgttttcagattttccagtccatgggatggagcccatg aacaatgccaccaaaggctgtgacgagtctgtggatgaggtcacagcaccatgtagctgc caagactgctctattgtctgtggccccaagccccagcccccacctcctcctgctccctgg acgatccttggcttggacgccatgtatgtcatcatgtggatcacctacatggcgtttttg cttgtgttttttggagcattttttgcagtgtggtgctacagaaaacggtattttgtctcc gagtacactcccatcgatagcaatatagctttttctgttaatgcaagtgacaaaggagag gcgtcctgctgtgaccctgtcagcgcagcatttgagggctgcttgaggcggctgttcaca cgctgggggtctttctgcgtccgaaaccctggctgtgtcattttcttctcgctggtcttc attactgcgtgttcgtcaggcctggtgtttgtccgggtcacaaccaatccagttgacctc tggtcagcccccagcagccaggctcgcctggaaaaagagtactttgaccagcactttggg cctttcttccggacggagcagctcatcatccgggcccctctcactgacaaacacatttac cagccatacccttcgggagctgatgtaccctttggacctccgcttgacatacagatactg caccaggttcttgacttacaaatagccatcgaaaacattactgcctcttatgacaatgag actgtgacacttcaagacatctgcttggcccctctttcaccgtataacacgaactgcacc attttgagtgtgttaaattacttccagaacagccattccgtgctggaccacaagaaaggg gacgacttctttgtgtatgccgattaccacacgcactttctgtactgcgtacgggctcct gcctctctgaatgatacaagtttgctccatgacccttgtctgggtacgtttggtggacca gtgttcccgtggcttgtgttgggaggctatgatgatcaaaactacaataacgccactgcc cttgtgattaccttccctgtcaataattactataatgatacagagaagctccagagggcc caggcctgggaaaaagagtttattaattttgtgaaaaactacaagaatcccaatctgacc atttccttcactgctgaacgaagtattgaagatgaactaaatcgtgaaagtgacagtgat gtcttcaccgttgtaattagctatgccatcatgtttctatatatttccctagccttgggg cacatgaaaagctgtcgcaggcttctggtggattcgaaggtctcactaggcatcgcgggc atcttgatcgtgctgagctcggtggcttgctccttgggtgtcttcagctacattgggttg cccttgaccctcattgtgattgaagtcatcccgttcctggtgctggctgttggagtggac aacatcttcattctggtgcaggcctaccagagagatgaacgtcttcaaggggaaaccctg gatcagcagctgggcagggtcctaggagaagtggctcccagtatgttcctgtcatccttt tctgagactgtagcatttttcttaggagcattgtccgtgatgccagccgtgcacaccttc tctctctttgcgggattggcagtcttcattgactttcttctgcagattacctgtttcgtg agtctcttggggttagacattaaacgtcaagagaaaaatcggctagacatcttttgctgt gtcagaggtgctgaagatggaacaagcgtccaggcctcagagagctgtttgtttcgcttc ttcaaaaactcctattctccacttctgctaaaggactggatgagaccaattgtgatagca atatttgtgggtgttctgtcattcagcatcgcagtcctgaacaaagtagatattggattg gatcagtctctttcgatgccagatgactcctacatggtggattatttcaaatccatcagt cagtacctgcatgcgggtccgcctgtgtactttgtcctggaggaagggcacgactacact tcttccaaggggcagaacatggtgtgcggcggcatgggctgcaacaatgattccctggtg cagcagatatttaacgcggcgcagctggacaactatacccgaataggcttcgccccctcg tcctggatcgacgattatttcgactgggtgaagccacagtcgtcttgctgtcgagtggac aatatcactgaccagttctgcaatgcttcagtggttgaccctgcctgcgttcgctgcagg cctctgactccggaaggcaaacagaggcctcaggggggagacttcatgagattcctgccc atgttcctttcggataaccctaaccccaagtgtggcaaagggggacatgctgcctatagt tctgcagttaacatcctccttggccatggcaccagggtcggagccacgtacttcatgacc taccacaccgtgctgcagacctctgctgactttattgacgctctgaagaaagcccgactt atagccagtaatgtcaccgaaaccatgggcattaacggcagtgcctaccgagtatttcct tacagtgtgttttatgtcttctacgaacagtacctgaccatcattgacgacactatcttc aacctcggtgtgtccctgggcgcgatatttctggtgaccatggtcctcctgggctgtgag ctctggtctgcagtcatcatgtgtgccaccatcgccatggtcttggtcaacatgtttgga gttatgtggctctggggcatcagtctgaacgctgtatccttggtcaacctggtgatgagc tgtggcatctccgtggagttctgcagccacataaccagagcgttcacggtgagcatgaaa ggcagccgcgtggagcgcgcggaagaggcacttgcccacatgggcagctccgtgttcagt ggaatcacacttacaaaatttggagggattgtggtgttggcttttgccaaatctcaaatt ttccagatattctacttcaggatgtatttggccatggtcttactgggagccactcacgga ttaatatttctccctgtcttactcagttacatagggccatcagtaaataaagccaaaagt tgtgccactgaagagcgatacaaaggaacagagcgcgaacggcttctaaatttctag |
Protein Sequence | >4864 : length: 1278 MTARGLALGLLLLLLCPAQVFSQSCVWYGECGIAYGDKRYNCEYSGPPKPLPKDGYDLVQ ELCPGFFFGNVSLCCDVRQLQTLKDNLQLPLQFLSRCPSCFYNLLNLFCELTCSPRQSQF LNVTATEDYVDPVTNQTKTNVKELQYYVGQSFANAMYNACRDVEAPSSNDKALGLLCGKD ADACNATNWIEYMFNKDNGQAPFTITPVFSDFPVHGMEPMNNATKGCDESVDEVTAPCSC QDCSIVCGPKPQPPPPPAPWTILGLDAMYVIMWITYMAFLLVFFGAFFAVWCYRKRYFVS EYTPIDSNIAFSVNASDKGEASCCDPVSAAFEGCLRRLFTRWGSFCVRNPGCVIFFSLVF ITACSSGLVFVRVTTNPVDLWSAPSSQARLEKEYFDQHFGPFFRTEQLIIRAPLTDKHIY QPYPSGADVPFGPPLDIQILHQVLDLQIAIENITASYDNETVTLQDICLAPLSPYNTNCT ILSVLNYFQNSHSVLDHKKGDDFFVYADYHTHFLYCVRAPASLNDTSLLHDPCLGTFGGP VFPWLVLGGYDDQNYNNATALVITFPVNNYYNDTEKLQRAQAWEKEFINFVKNYKNPNLT ISFTAERSIEDELNRESDSDVFTVVISYAIMFLYISLALGHMKSCRRLLVDSKVSLGIAG ILIVLSSVACSLGVFSYIGLPLTLIVIEVIPFLVLAVGVDNIFILVQAYQRDERLQGETL DQQLGRVLGEVAPSMFLSSFSETVAFFLGALSVMPAVHTFSLFAGLAVFIDFLLQITCFV SLLGLDIKRQEKNRLDIFCCVRGAEDGTSVQASESCLFRFFKNSYSPLLLKDWMRPIVIA IFVGVLSFSIAVLNKVDIGLDQSLSMPDDSYMVDYFKSISQYLHAGPPVYFVLEEGHDYT SSKGQNMVCGGMGCNNDSLVQQIFNAAQLDNYTRIGFAPSSWIDDYFDWVKPQSSCCRVD NITDQFCNASVVDPACVRCRPLTPEGKQRPQGGDFMRFLPMFLSDNPNPKCGKGGHAAYS SAVNILLGHGTRVGATYFMTYHTVLQTSADFIDALKKARLIASNVTETMGINGSAYRVFP YSVFYVFYEQYLTIIDDTIFNLGVSLGAIFLVTMVLLGCELWSAVIMCATIAMVLVNMFG VMWLWGISLNAVSLVNLVMSCGISVEFCSHITRAFTVSMKGSRVERAEEALAHMGSSVFS GITLTKFGGIVVLAFAKSQIFQIFYFRMYLAMVLLGATHGLIFLPVLLSYIGPSVNKAKS CATEERYKGTERERLLNF |