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NPC1 Niemann-Pick disease, type C1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000271 Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA. GenEZ ORF Cloning On-demand $1699.00 25

*Business Day

Related Services

Gene Symbol NPC1
Entrez Gene ID 4864
Full Name Niemann-Pick disease, type C1
Synonyms FLJ98532, NPC
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

18

18q11-q12

Summary 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.[provided by RefSeq, Aug 2009].
Disorder

MIM: 607623

Niemann-Pick disease, type C1, 257220 (3); Niemann-Pick disease,

mRNA Protein Product Sequence Price Select
NM_000271, 255652943 NP_000262, 255652944 Niemann-Pick C1 protein ORF Sequence $1500.00
KEGG
hsa04142Lysosome
Homo sapiens (human)NPC1NP_000262.2
Pan troglodytes (chimpanzee)NPC1XP_001155285.1
Macaca mulatta (Rhesus monkey)NPC1XP_002800934.1
Canis lupus familiaris (dog)NPC1NP_001003107.1
Bos taurus (cattle)NPC1NP_777183.1
Mus musculus (house mouse)Npc1NP_032746.2
Rattus norvegicus (Norway rat)Npc1XP_002728567.1
Gallus gallus (chicken)NPC1XP_419162.3
Danio rerio (zebrafish)npc1XP_001919958.3
Drosophila melanogaster (fruit fly)Npc1aNP_609357.2
Arabidopsis thaliana (thale cress)AT4G38350NP_001190953.1
Arabidopsis thaliana (thale cress)AT1G42470NP_174975.2
GeneCards NPC1
PDB 3GKJ, 3GKH, 3GKI
UniProt O15118
MIM 607623
Ensembl ENSG00000141458
HGNC 7897
HPRD 09622

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
Niemann-Pick C1 protein
Names
Niemann-Pick C1 protein

Interactant



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