LEPRE1 [The Human Chemical-Genetic Interaction Map Project]

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======= LEPRE1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: P3H1
  * **<color #00a2e8>Official Name</color>**: prolyl 3-hydroxylase 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=64175|64175]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q32P28|Q32P28]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=LEPRE1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20LEPRE1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/610339|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

<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'>
|2OG-FeII Oxy|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|procollagen-proline 3-dioxygenase activity|
|negative regulation of post-translational protein modification|
|regulation of post-translational protein modification|
|peptidyl-proline hydroxylation|
|L-ascorbic acid binding|
|protein hydroxylation|
|chaperone-mediated protein folding|
|peptidyl-proline modification|
|collagen binding|
|collagen metabolic process|
|iron ion binding|
|protein stabilization|
|bone development|
|protein folding|
|positive regulation of neuron projection development|
|regulation of protein stability|
|endoplasmic reticulum lumen|
|collagen-containing extracellular matrix|
|positive regulation of neuron differentiation|
|positive regulation of cell projection organization|
|regulation of protein secretion|
|positive regulation of neurogenesis|
|regulation of peptide secretion|
|skeletal system development|
|regulation of neuron projection development|
|positive regulation of nervous system development|
|positive regulation of cell development|
|negative regulation of protein modification process|
|protein-containing complex|
|regulation of neuron differentiation|
|negative regulation of cell population proliferation|
|regulation of plasma membrane bounded cell projection organization|
|regulation of protein transport|
|regulation of cell projection organization|
|regulation of peptide transport|
|regulation of establishment of protein localization|
|regulation of secretion by cell|
|molecular function|
|regulation of secretion|
|regulation of neurogenesis|
|peptidyl-amino acid modification|
|regulation of nervous system development|
|regulation of cell development|
|oxidation-reduction process|
|positive regulation of cell differentiation|
|endoplasmic reticulum|
|regulation of protein localization|
|negative regulation of cellular protein metabolic process|
|negative regulation of protein metabolic process|
|positive regulation of cellular component organization|
|positive regulation of developmental process|
|generation of neurons|
|regulation of cell population proliferation|
|neurogenesis|
|positive regulation of multicellular organismal process|
|regulation of cell differentiation|
|regulation of protein modification process|
|regulation of transport|
|membrane|
</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:exp230|Epigallocatechin gallate 20μM R05 exp230]]|1.79|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:r:rrm1|RRM1]]|0.472|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 1/726
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/25|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/15|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/14|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/7|
|thyroid|0/2|
|upper aerodigestive|1/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 11802
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.7 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='LEPRE1 Expression in NALM6 Cells: 6.7'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>