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Gene: NPC1L1 (NPC1 like intracellular cholesterol transporter 1) Homo sapiens
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Symbol: NPC1L1
Name: NPC1 like intracellular cholesterol transporter 1
RGD ID: 1345181
Description: Exhibits Rab GTPase binding activity and myosin V binding activity. Involved in several processes, including cellular response to sterol depletion; cholesterol biosynthetic process; and intestinal cholesterol absorption. Localizes to spanning component of plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: LDLCQ7; Niemann-Pick C1-like protein 1; NPC1 (Niemann-Pick disease, type C1, gene)-like 1; NPC1 like 1; NPC1-like 1; NPC1-like intracellular cholesterol transporter 1; NPC11L1; SLC65A2
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl744,512,535 - 44,541,330 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl744,512,535 - 44,541,315 (-)EnsemblGRCh38hg38GRCh38
GRCh38744,512,440 - 44,541,651 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37744,552,134 - 44,580,914 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36744,518,659 - 44,547,439 (-)NCBINCBI36hg18NCBI36
Build 34744,325,376 - 44,354,154NCBI
Celera744,651,139 - 44,679,899 (-)NCBI
Cytogenetic Map7p13NCBI
HuRef744,436,243 - 44,465,023 (-)NCBIHuRef
CHM1_1744,556,489 - 44,585,261 (-)NCBICHM1_1
CRA_TCAGchr7v2744,591,658 - 44,620,428 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology 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 NPC1L1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1345181
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2020-09-16
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.