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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 :
    • Human
    • Zebrafish
    • Source :
    • E.coli
    • HEK293
    • Mammalian Cell
    • Wheat Germ
    • Tag :
    • GST
    • His
    • Flag
    • N/A
    Species Cat.# Product name Source (Host) Tag Protein Length Price
    Human NPC1-1338H Recombinant Human NPC1, His-tagged E.coli His
    Human NPC1-1339H Recombinant Human NPC1 protein, His/FLAG-tagged HEK293 His/Flag
    Human NPC1-29132TH Recombinant Human NPC1 Wheat Germ N/A
    Human NPC1-29133TH Recombinant Human NPC1, GST-tagged Wheat Germ GST
    Zebrafish NPC1-8054Z Recombinant Zebrafish NPC1 Mammalian Cell His

    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.

    Function Related Protein
    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

    Kwiatkowska, K; Marszalek-Sadowska, E; et al. Visualization of cholesterol deposits in lysosomes of Niemann-Pick type C fibroblasts using recombinant perfringolysin O. ORPHANET JOURNAL OF RARE DISEASES 9:-(2014).
    Lennemann, NJ; Rhein, BA; et al. Comprehensive Functional Analysis of N-Linked Glycans on Ebola Virus GP1. MBIO 5:-(2014).

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