Gene Symbol | NPC1 |
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Entrez Gene | 4864 |
Alt Symbol | NPC |
Species | Human |
Gene Type | protein-coding |
Description | Niemann-Pick disease, type C1 |
Other Description | Niemann-Pick C1 protein |
Swissprots | O15118 Q9P130 B4DET3 |
Accessions | AAD48006 AAK25791 EAX01158 O15118 AB209048 BAD92285 AB971140 BAQ08368 AF002020 AAB63982 AI242474 AK293779 BAG57194 AK295715 BAG58559 AK308491 BC063302 AAH63302 BP217319 CA438246 DR159421 XM_005258277 XP_005258334 XM_005258278 XP_005258335 XM_005258279 XP_005258336 XM_006722479 XP_006722542 XM_011526015 XP_011524317 NM_000271 NP_000262 |
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 ne |
Subcellular Location | Late endosome membrane {ECO:0000269|PubMed:17897319}; Multi-pass membrane protein {ECO:0000269|PubMed:17897319}. Lysosome membrane {ECO:0000269|PubMed:17897319}; Multi-pass membrane protein {ECO:0000269|PubMed:17897319}. |
Top Pathways | Lysosome |
Human Niemann Pick C1 protein fragment - ab114306 from Abcam
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NPC / NPC1 Antibody Blocking Peptide - LS-E2450 from LifeSpan Bioscience
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NPC / NPC1 Antibody Blocking Peptide - LS-E27388 from LifeSpan Bioscience
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NPC / NPC1 Antibody Blocking Peptide - LS-E30708 from LifeSpan Bioscience
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NPC1-Antibody-Center-Blocking-peptide - BP13472c from Abgent, a WuXi AppTec company
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Niemann Pick C1 Peptide - AC21-2830-P from Abcore
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NPC1 - H00004864-Q01-10 from Acris Antibodies
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NPC1 - H00004864-Q01-25 from Acris Antibodies
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NPC1 Control Peptide - AP30613CP-N from Acris Antibodies
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NPC1 Peptide - 5185P from ProSci
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NPC1 fusion protein - Ag5323 from Proteintech Group
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NPC1 fusion protein - Ag4946 from Proteintech Group
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Recombinant Human NPC1 - NPC1-29132TH from Creative Biomart
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Recombinant Human NPC1, His-tagged - NPC1-1338H from Creative Biomart
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Recombinant Human NPC1, GST-tagged - NPC1-29133TH from Creative Biomart
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NPC1, Peptide - MBS428258 from MyBioSource
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Recombinant Human NPC1 protein, His/FLAG-tagged - NPC1-1339H from Creative Biomart
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Niemann-Pick C1 protein (NPC1), partial, Recombinant Protein - MBS1217712 from MyBioSource
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NPC1, Recombinant Protein - MBS2545184 from MyBioSource
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