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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
XM_005258277 PREDICTED: Homo sapiens Niemann-Pick disease, type C1 (NPC1), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_005258278 PREDICTED: Homo sapiens Niemann-Pick disease, type C1 (NPC1), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_005258279 PREDICTED: Homo sapiens Niemann-Pick disease, type C1 (NPC1), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_006722479 PREDICTED: Homo sapiens Niemann-Pick disease, type C1 (NPC1), transcript variant X4, mRNA. GenEZ ORF Cloning On-demand $1699.00 25

*Business Day

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

18

18q11.2

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 precursor ORF Sequence $1500.00
XM_005258277, 530413811 XP_005258334, 530413812 Niemann-Pick C1 protein isoform X1 ORF Sequence $1500.00
XM_005258278, 578832532 XP_005258335, 530413814 Niemann-Pick C1 protein isoform X2 ORF Sequence $1500.00
XM_005258279, 530413815 XP_005258336, 530413816 Niemann-Pick C1 protein isoform X3 ORF Sequence $1500.00
XM_006722479, 578832533 XP_006722542, 578832534 Niemann-Pick C1 protein isoform X4 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)Npc1NP_705888.2
Gallus gallus (chicken)NPC1XP_419162.3
Danio rerio (zebrafish)npc1NP_001230804.1
Drosophila melanogaster (fruit fly)Npc1aNP_001188769.1
Arabidopsis thaliana (thale cress)AT4G38350NP_001190953.1
Arabidopsis thaliana (thale cress)AT1G42470NP_174975.2
Xenopus (Silurana) tropicalis (western clawed frog)npc1XP_004915269.1
Process
IDNameEvidence
GO:0006486protein glycosylationIDA
GO:0006897endocytosisIEA
GO:0006914autophagyIGI
GO:0007041lysosomal transportISS
GO:0007165signal transductionIEA
GO:0007165signal transductionTAS
GO:0007628adult walking behaviorIEA
GO:0008203cholesterol metabolic processIEA
GO:0008206bile acid metabolic processISS
GO:0016242negative regulation of macroautophagyIEA
GO:0030301cholesterol transportIDA
GO:0031579membrane raft organizationIMP
GO:0033344cholesterol effluxIDA
GO:0042493response to drugIEA
GO:0042632cholesterol homeostasisIDA
GO:0042632cholesterol homeostasisISS
GO:0046686response to cadmium ionIEA
GO:0060548negative regulation of cell deathIEA
GO:0071383cellular response to steroid hormone stimulusIEA
GO:0071404cellular response to low-density lipoprotein particle stimulusIEA
GO:0090150establishment of protein localization to membraneIDA
Component
IDNameEvidence
GO:0005576extracellular regionISS
GO:0005635nuclear envelopeIDA
GO:0005764lysosomeISS
GO:0005765lysosomal membraneIDA
GO:0005783endoplasmic reticulumIDA
GO:0005794Golgi apparatusIEA
GO:0005887integral component of plasma membraneIDA
GO:0016020membraneIDA
GO:0016021integral component of membraneTAS
GO:0031902late endosome membraneIEA
GO:0045121membrane raftIEA
GO:0048471perinuclear region of cytoplasmIDA
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0004872receptor activityTAS
GO:0004888transmembrane signaling receptor activityTAS
GO:0005515protein bindingIPI
GO:0008158hedgehog receptor activityIEA
GO:0015248sterol transporter activityTAS
GO:0015485cholesterol bindingIDA
GeneCards NPC1
PDB 3GKJ, 3GKH, 3GKI
UniProt O15118
Vega OTTHUMG00000131873
MIM 607623
Ensembl ENSG00000141458
HGNC 7897
HPRD 09622

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

What is the normal function of the NPC1 gene?

The NPC1 gene provides instructions for producing a protein located mainly in the membranes of the lysosomes and endosomes, compartments in the cell that digest and recycle materials. While its exact function is not completely understood, this protein plays a role in the movement of cholesterol and other types of lipids (fats) across cell membranes.

Interactant

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