CYP27A1 [The Human Chemical-Genetic Interaction Map Project]

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======= CYP27A1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: CYP27A1
  * **<color #00a2e8>Official Name</color>**: cytochrome P450 family 27 subfamily A member 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1593|1593]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q02318|Q02318]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CYP27A1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CYP27A1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606530|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Catalyzes the first step in the oxidation of the side chain of sterol intermediates; the 27-hydroxylation of 5-beta- cholestane-3-alpha,7-alpha,12-alpha-triol. Has also a vitamin D3- 25-hydroxylase activity. {ECO:0000250|UniProtKB:P17177}.

<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'>
|p450|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|cholestanetriol 26-monooxygenase activity|
|cholesterol 26-hydroxylase activity|
|vitamin D3 25-hydroxylase activity|
|calcitriol biosynthetic process from calciol|
|vitamin D biosynthetic process|
|vitamin D3 metabolic process|
|cellular alcohol metabolic process|
|cellular alcohol biosynthetic process|
|fat-soluble vitamin biosynthetic process|
|sterol catabolic process|
|cholesterol catabolic process|
|vitamin D metabolic process|
|vitamin biosynthetic process|
|steroid catabolic process|
|bile acid biosynthetic process|
|steroid hydroxylase activity|
|fat-soluble vitamin metabolic process|
|bile acid metabolic process|
|steroid hormone biosynthetic process|
|alcohol catabolic process|
|polyol biosynthetic process|
|hormone biosynthetic process|
|organic hydroxy compound catabolic process|
|polyol metabolic process|
|alcohol biosynthetic process|
|cholesterol metabolic process|
|vitamin metabolic process|
|steroid biosynthetic process|
|secondary alcohol metabolic process|
|iron ion binding|
|sterol metabolic process|
|heme binding|
|monocarboxylic acid biosynthetic process|
|organic hydroxy compound biosynthetic process|
|hormone metabolic process|
|steroid metabolic process|
|lipid catabolic process|
|carboxylic acid biosynthetic process|
|organic acid biosynthetic process|
|alcohol metabolic process|
|mitochondrial matrix|
|mitochondrial inner membrane|
|small molecule catabolic process|
|organic hydroxy compound metabolic process|
|organic cyclic compound catabolic process|
|drug metabolic process|
|monocarboxylic acid metabolic process|
|regulation of hormone levels|
|lipid biosynthetic process|
|small molecule biosynthetic process|
|carboxylic acid metabolic process|
|oxidation-reduction process|
|oxoacid metabolic process|
|organic acid metabolic process|
|lipid metabolic process|
|mitochondrion|
|organic cyclic compound biosynthetic process|
|small molecule metabolic process|
|organic substance catabolic 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:exp470|Chloroquine 32μM R08 exp470]]|2.06|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:h:hars|HARS]]|0.412|
</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>**: 16611
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -3.28 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='CYP27A1 Expression in NALM6 Cells: -3.28'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>