NPC1L1 [The Human Chemical-Genetic Interaction Map Project]

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======= NPC1L1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: NPC1L1
  * **<color #00a2e8>Official Name</color>**: NPC1 like intracellular cholesterol transporter 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=29881|29881]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9UHC9|Q9UHC9]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=NPC1L1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20NPC1L1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/608010|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene is a multi-pass membrane protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1) domain and a putative sterol-sensing domain (SSD) which includes a YQRL motif functioning as a plasma membrane to trans-Golgi network transport signal in other proteins. This protein takes up free cholesterol into cells through vesicular endocytosis and plays a critical role in the absorption of intestinal cholesterol. It also has the ability to transport alpha-tocopherol (vitamin E). The drug ezetimibe targets this protein and inhibits the absorption of intestinal cholesterol and alpha-tocopherol. In addition, this protein may play a critical role in regulating lipid metabolism. Polymorphic variations in this gene are associated with plasma total cholesterol and low-density lipoprotein cholesterol (LDL-C) levels and coronary heart disease (CHD) risk. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Plays a major role in cholesterol homeostasis. Is critical for the uptake of cholesterol across the plasma membrane of the intestinal enterocyte. Is the direct molecular target of ezetimibe, a drug that inhibits cholesterol absorption. Lack of activity leads to multiple lipid transport defects. The protein may have a function in the transport of multiple lipids and their homeostasis, and may play a critical role in regulating lipid metabolism. Acts as a negative regulator of NPC2 and down- regulates its expression and secretion by inhibiting its maturation and accelerating its degradation. {ECO:0000269|PubMed:15928087, ECO:0000269|PubMed:22095670}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Sterol-sensing|
|Patched|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|spanning component of plasma membrane|
|cellular response to sterol depletion|
|intestinal cholesterol absorption|
|response to sterol depletion|
|intestinal lipid absorption|
|lipid digestion|
|myosin V binding|
|intestinal absorption|
|cholesterol biosynthetic process|
|secondary alcohol biosynthetic process|
|sterol biosynthetic process|
|brush border membrane|
|cholesterol transport|
|drug binding|
|sterol transport|
|digestive system process|
|alcohol biosynthetic process|
|digestion|
|cholesterol metabolic process|
|lipoprotein metabolic process|
|steroid biosynthetic process|
|secondary alcohol metabolic process|
|sterol metabolic process|
|organic hydroxy compound transport|
|cytoplasmic vesicle membrane|
|Rab GTPase binding|
|organic hydroxy compound biosynthetic process|
|steroid metabolic process|
|lipid transport|
|alcohol metabolic process|
|apical plasma membrane|
|lipid localization|
|organic hydroxy compound metabolic process|
|lipid biosynthetic process|
|small molecule biosynthetic process|
|response to drug|
|lipid metabolic process|
|organic cyclic compound biosynthetic process|
|cellular response to stress|
|small molecule metabolic process|
|system process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp96|BI-2536 0.02μM R03 exp96]]|-1.86|
|[[:results:exp187|proTAME 5μM R04 exp187]]|1.72|
|[[:results:exp33|Rotenone 2μM R00 exp33]]|1.84|
|[[:results:exp208|Vinblastine 0.015μM R05 exp208]]|2.02|
|[[:results:exp93|DABN racemic mixture R03 exp93]]|2.16|
|[[:results:exp244|SB743921 0.001μM R05 exp244]]|2.48|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:h:hgc6.3|HGC6.3]]|0.454|
|[[:human genes:r:rrm1|RRM1]]|0.436|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 3179
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -2.21 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='NPC1L1 Expression in NALM6 Cells: -2.21'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>