PEX19 [The Human Chemical-Genetic Interaction Map Project]

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======= PEX19 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: PEX19
  * **<color #00a2e8>Official Name</color>**: peroxisomal biogenesis factor 19
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=5824|5824]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P40855|P40855]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PEX19&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PEX19|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/600279|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53. {ECO:0000269|PubMed:10051604, ECO:0000269|PubMed:10704444, ECO:0000269|PubMed:11259404, ECO:0000269|PubMed:11883941, ECO:0000269|PubMed:14709540, ECO:0000269|PubMed:15007061}.

<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'>
|Pex19|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|peroxisome membrane class-1 targeting sequence binding|
|negative regulation of lipid binding|
|regulation of lipid binding|
|protein import into peroxisome membrane|
|peroxisome fission|
|chaperone-mediated protein transport|
|peroxisomal membrane transport|
|brush border membrane|
|peroxisomal membrane|
|chaperone-mediated protein folding|
|protein localization to peroxisome|
|protein targeting to peroxisome|
|establishment of protein localization to peroxisome|
|peroxisomal transport|
|peroxisome organization|
|ATPase binding|
|protein N-terminus binding|
|peroxisome|
|protein import|
|protein targeting to membrane|
|negative regulation of binding|
|protein stabilization|
|protein folding|
|establishment of protein localization to membrane|
|regulation of protein stability|
|organelle fission|
|protein targeting|
|regulation of binding|
|establishment of protein localization to organelle|
|protein localization to membrane|
|protein-containing complex|
|protein localization to organelle|
|intracellular protein transport|
|negative regulation of molecular function|
|transmembrane transport|
|protein transport|
|intracellular transport|
|peptide transport|
|amide transport|
|cellular protein localization|
|cellular macromolecule localization|
|establishment of protein localization|
|establishment of localization in cell|
|nitrogen compound transport|
</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:exp84|UM0125461 0.74μM R02 exp84]]|-1.85|
|[[:results:exp230|Epigallocatechin gallate 20μM R05 exp230]]|1.79|
|[[:results:exp248|UM0131023 0.05μM R05 exp248]]|1.86|
|[[:results:exp467|CAY10603 0.55μM R08 exp467]]|2.01|
|[[:results:exp447|Amiloride 100μM R08 exp447]]|2.22|
|[[:results:exp282|Fluvastatin 2.2μM R06 exp282]]|2.3|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:p:pex1|PEX1]]|0.443|
|[[:human genes:p:pex12|PEX12]]|0.412|
|[[:human genes:p:pex13|PEX13]]|0.409|
|[[:human genes:p:pex2|PEX2]]|0.404|
</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>**: 11427
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.55 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='PEX19 Expression in NALM6 Cells: 5.55'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>