NPC1
Sign in to saveAlso known as NPC, NPC intracellular cholesterol transporter 1, SLC65A1, POGZ
thumb|NPC1 gene is located on the long (q) arm of chromosome 18 at position 11.2. Niemann-Pick disease, type C1 (NPC1) is a membrane protein that mediates intracellular cholesterol trafficking in mammals. In humans the protein is encoded by the NPC1 gene (chromosome location 18q11).
In the Vinony graph
Vinony's link graph records 24 inbound references to NPC1, and connects out to PubMed, human chromosome 18 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 18.
Vinony links it to 8 Wikipedia language editions.
Gene data
NPC1- Name
- NPC intracellular cholesterol transporter 1
- Type
- protein-coding
- Position
- 23,506,184–23,586,969 (−)
- Aliases
- NPC, POGZ, SLC65A1
- Ensembl
- ENSG00000141458
- RefSeq RNA
- NM_000271.5, XM_005258277.1, XM_005258278.6, XM_005258279.3, XM_006722479.4
- RefSeq protein
- NP_000262.2, XP_005258334.1, XP_005258335.1, XP_005258336.1, XP_006722542.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
NPC intracellular cholesterol transporter 1
- Symbol
- NPC1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 18:23,506,184-23,586,969
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein NPC1 PDB 3GKH.png
Show 9 more facts
- HomoloGene ID
- 228
- Commons category
- NPC1
- genetic association
- Niemann–Pick disease, type C
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/4864
- genomic end
- 23586506
- genomic start
- 21086148
- chromosome
- human chromosome 18
- cytogenetic location
- 18q11.2
via Wikidata · CC0
~8 min read
Encyclopedic overview
9 sectionsContents
- Function
- Clinical significance
- Obesity
- HIV-AIDS
- Ebola virus
- Mechanisms in pathology
- References
- Further reading
- External links
thumb|NPC1 gene is located on the long (q) arm of chromosome 18 at position 11.2. Niemann-Pick disease, type C1 (NPC1) is a membrane protein that mediates intracellular cholesterol trafficking in mammals. In humans the protein is encoded by the NPC1 gene (chromosome location 18q11).
== Function ==
Excerpted from Wikipedia’s “NPC1” article, available under the CC BY-SA 4.0 licence.