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Gene: NPC1 (NPC intracellular cholesterol transporter 1) Homo sapiens
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Symbol: NPC1
Name: NPC intracellular cholesterol transporter 1
Description: Exhibits cholesterol binding activity. Involved in several processes, including cholesterol homeostasis; cholesterol transport; and membrane raft organization. Localizes to several cellular components, including integral component of lysosomal membrane; nuclear envelope; and perinuclear region of cytoplasm. Implicated in Niemann-Pick disease type C1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FLJ98532; Niemann-Pick C1 protein; Niemann-Pick disease, type C1; NPC; POGZ; SLC65A1; truncated Niemann-Pick C1
Orthologs:
Mus musculus (house mouse) : Npc1 (NPC intracellular cholesterol transporter 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Npc1 (NPC intracellular cholesterol transporter 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Npc1 (NPC intracellular cholesterol transporter 1)
Pan paniscus (bonobo/pygmy chimpanzee) : NPC1 (NPC intracellular cholesterol transporter 1)
Canis lupus familiaris (dog) : NPC1 (NPC intracellular cholesterol transporter 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Npc1 (NPC intracellular cholesterol transporter 1)
Sus scrofa (pig) : NPC1 (NPC intracellular cholesterol transporter 1)
Chlorocebus sabaeus (African green monkey) : NPC1 (NPC intracellular cholesterol transporter 1)
Heterocephalus glaber (naked mole-rat) : Npc1 (NPC intracellular cholesterol transporter 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl1823,506,184 - 23,586,506 (-)EnsemblGRCh38hg38GRCh38
GRCh381823,506,184 - 23,586,506 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371821,086,148 - 21,166,581 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361819,365,461 - 19,420,468 (-)NCBINCBI36hg18NCBI36
Build 341819,365,461 - 19,420,426NCBI
Celera1817,927,454 - 17,982,730 (-)NCBI
Cytogenetic Map18q11.2NCBI
HuRef1817,966,414 - 18,021,712 (-)NCBIHuRef
CHM1_11821,038,743 - 21,093,877 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on NPC1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1318462
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.