| Gene Symbol |
Npc1
|
| Entrez Gene |
18145
|
| Alt Symbol |
A430089E03Rik, C85354, D18Ertd139e, D18Ertd723e, lcsd, nmf164, spm
|
| Species |
Mouse
|
| Gene Type |
protein-coding
|
| Description |
Niemann-Pick type C1
|
| Other Description |
Niemann Pick type C1|Niemann-Pick C1 protein|sphingomyelinosis
|
| Swissprots |
O35605 O35604 G3X8W9
|
| Accessions |
AAB63373 AAK83683 EDL01560 O35604 AF003348 AAB63372 AK003935 AK040367 AK044878 BAC32127 AK087174 AK154282 BAE32486 AK155379 BAE33230 AK170880 AK171371 AK179090 AK195629 AK203292 BC052437 AAH52437 BC054539 AAH54539 CF585180 NM_008720 NP_032746
|
| 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; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein.
|
| Tissue Specificity |
Expressed predominantly in perisynaptic astrocytic glial processes. Also expressed in heart, spleen, lung, liver, skeletal muscle, kidney, testis.
|
| Top Pathways |
Lysosome
|