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


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu27327 NM_000271 Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA. pcDNA3.1+-DYK On-demand 25 $1699.00
OHu51216 XM_005258277 PREDICTED: Homo sapiens Niemann-Pick disease, type C1 (NPC1), transcript variant X1, mRNA. pcDNA3.1+-DYK On-demand 25 $1699.00
OHu51217 XM_005258278 PREDICTED: Homo sapiens Niemann-Pick disease, type C1 (NPC1), transcript variant X2, mRNA. pcDNA3.1+-DYK On-demand 25 $1699.00
OHu51218 XM_005258279 PREDICTED: Homo sapiens Niemann-Pick disease, type C1 (NPC1), transcript variant X3, mRNA. pcDNA3.1+-DYK On-demand 25 $1699.00
OHu51219 XM_006722479 PREDICTED: Homo sapiens Niemann-Pick disease, type C1 (NPC1), transcript variant X4, mRNA. pcDNA3.1+-DYK On-demand 25 $1699.00
OHu27327C NM_000271 Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA. Customized vector On-demand 25 $1699.00
OHu51216C XM_005258277 PREDICTED: Homo sapiens Niemann-Pick disease, type C1 (NPC1), transcript variant X1, mRNA. Customized vector On-demand 25 $1699.00
OHu51217C XM_005258278 PREDICTED: Homo sapiens Niemann-Pick disease, type C1 (NPC1), transcript variant X2, mRNA. Customized vector On-demand 25 $1699.00
OHu51218C XM_005258279 PREDICTED: Homo sapiens Niemann-Pick disease, type C1 (NPC1), transcript variant X3, mRNA. Customized vector On-demand 25 $1699.00
OHu51219C XM_006722479 PREDICTED: Homo sapiens Niemann-Pick disease, type C1 (NPC1), transcript variant X4, mRNA. Customized vector On-demand 25 $1699.00

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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?

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