PEX5 [The Human Chemical-Genetic Interaction Map Project]

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======= PEX5 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: PEX5
  * **<color #00a2e8>Official Name</color>**: peroxisomal biogenesis factor 5
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=5830|5830]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P50542|P50542]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PEX5&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PEX5|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/600414|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. 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. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular 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 neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. {ECO:0000269|PubMed:7706321, ECO:0000269|PubMed:7719337, ECO:0000269|PubMed:7790377}.

<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'>
|TPR 1|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|peroxisome matrix targeting signal-1 binding|
|negative regulation of protein tetramerization|
|regulation of protein homotetramerization|
|regulation of protein tetramerization|
|negative regulation of protein homotetramerization|
|peroxisome targeting sequence binding|
|protein import into peroxisome matrix, docking|
|protein import into peroxisome membrane|
|negative regulation of protein homooligomerization|
|protein import into peroxisome matrix|
|negative regulation of protein oligomerization|
|peroxisomal membrane transport|
|regulation of protein homooligomerization|
|small GTPase binding|
|protein transmembrane import into intracellular organelle|
|regulation of protein oligomerization|
|intracellular protein transmembrane transport|
|peroxisomal membrane|
|protein transmembrane transport|
|protein localization to peroxisome|
|protein targeting to peroxisome|
|establishment of protein localization to peroxisome|
|peroxisomal transport|
|peroxisome organization|
|protein N-terminus binding|
|peroxisome|
|negative regulation of protein complex assembly|
|protein import|
|protein targeting to membrane|
|establishment of protein localization to membrane|
|enzyme binding|
|protein targeting|
|establishment of protein localization to organelle|
|regulation of protein complex assembly|
|protein localization to membrane|
|protein-containing complex|
|protein ubiquitination|
|negative regulation of cellular component organization|
|protein localization to organelle|
|protein modification by small protein conjugation|
|regulation of cellular component biogenesis|
|Golgi apparatus|
|protein modification by small protein conjugation or removal|
|intracellular protein transport|
|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|
|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:exp22|MLN-4924 2μM R00 exp22]]|-2.06|
|[[:results:exp7|Bortezomib 0.05μM R00 exp7]]|-1.71|
|[[:results:exp26|Oligomycin-A 20μM R00 exp26]]|-1.7|
|[[:results:exp230|Epigallocatechin gallate 20μM R05 exp230]]|1.99|
|[[:results:exp246|UM0011500 10μM R05 exp246]]|2.01|
|[[:results:exp282|Fluvastatin 2.2μM R06 exp282]]|2.45|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:p:pex10|PEX10]]|0.578|
|[[:human genes:p:pex12|PEX12]]|0.552|
|[[:human genes:p:polr2j3|POLR2J3]]|0.534|
|[[:human genes:p:pex26|PEX26]]|0.528|
|[[:human genes:p:pex13|PEX13]]|0.473|
|[[:human genes:f:fam160a1|FAM160A1]]|0.434|
|[[:human genes:c:copb1|COPB1]]|0.426|
|[[:human genes:p:pex1|PEX1]]|0.42|
|[[:human genes:s:supt5h|SUPT5H]]|0.415|
|[[:human genes:c:copz1|COPZ1]]|0.414|
|[[:human genes:a:agps|AGPS]]|0.41|
|[[:human genes:p:pex6|PEX6]]|0.407|
|[[:human genes:p:pex2|PEX2]]|0.406|
|[[:human genes:d:dock6|DOCK6]]|0.403|
|[[:human genes:p:pex14|PEX14]]|0.402|
</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>**: 2131
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.9 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='PEX5 Expression in NALM6 Cells: 5.9'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>