|Official Full Name||Niemann-Pick disease, type C1|
|Background||This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.|
|Synonyms||NPC1; Niemann-Pick disease, type C1; Niemann-Pick C1 protein; NPC; FLJ98532; Cdig2|
|Species||Cat.#||Product name||Source (Host)||Tag||Protein Length||Price|
npc1 involved in several pathways and played different roles in them. We selected most pathways npc1 participated on our site, such as Lysosome, which may be useful for your reference. Also, other proteins which involved in the same pathway with npc1 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.
|Pathway Name||Pathway Related Protein|
|Lysosome||GGA3; CTSF; Abca2; CTSH; AP3S2; NAPSA; CD63; GNPTAB; LAMP3; ENTPD4|
npc1 has several biochemical functions, for example, cholesterol binding, hedgehog receptor activity, protein binding. Some of the functions are cooperated with other proteins, some of the functions could acted by npc1 itself. We selected most functions npc1 had, and list some proteins which have the same functions with npc1. You can find most of the proteins on our site.
|cholesterol binding||APOE; ERLIN1; NPC1; OSBPL1A; ANXA6; STARD3; ABCG1; OSBPL5; SYP; APOC3|
|hedgehog receptor activity||NPC1; PTCH1; DISP1; PTCHD3; PTCHD1; PTCHD4; PTCH2; B9D1|
|protein binding||ABCG1; EIF5A2; DAZAP2; PIM1; NCKAP1; ANO2; RNF115; SCRIB; HILPDA; HPRT1|
|receptor activity||MED30; TNFRSF9; ITGB3A; TEK; GABRA5; RPA1; NRXN1; NLGN3A; TIGIT; CD200R3|
|sterol transporter activity||SCP2; OSBP; SCP2A; NPC1; C20orf79|
|transmembrane signaling receptor activity||CLEC4A; EGFR; DCC; FZD7B; NPR2; OR12D3; CD247; TLR5; CD79A; Fzd4|
|virus receptor activity||CLEC4M; F11R; SIVA1; ITGA2; PVRL2; SLC10A1; ANPEP; CR2; RPSA; HTR2A|
npc1 has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with npc1 here. Most of them are supplied by our site. Hope this information will be useful for your research of npc1.
cholesterol; b3xyc5_sollc; cona_canen; TMEM173; Unc93b1