======= PDHX =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: PDHX
  * **<color #00a2e8>Official Name</color>**: pyruvate dehydrogenase complex component X
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=8050|8050]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O00330|O00330]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PDHX&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PDHX|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/608769|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Required for anchoring dihydrolipoamide dehydrogenase (E3) to the dihydrolipoamide transacetylase (E2) core of the pyruvate dehydrogenase complexes of eukaryotes. This specific binding is essential for a functional PDH complex.

<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'>
|Biotin lipoyl|
|E3 binding|
|2-oxoacid dh|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|mitochondrial acetyl-CoA biosynthetic process from pyruvate|
|pyruvate dehydrogenase (NAD+) activity|
|pyruvate dehydrogenase complex|
|acetyl-CoA biosynthetic process from pyruvate|
|acetyl-CoA biosynthetic process|
|transferase activity, transferring acyl groups|
|acetyl-CoA metabolic process|
|acyl-CoA biosynthetic process|
|thioester biosynthetic process|
|nucleoside bisphosphate biosynthetic process|
|purine nucleoside bisphosphate biosynthetic process|
|ribonucleoside bisphosphate biosynthetic process|
|pyruvate metabolic process|
|thioester metabolic process|
|acyl-CoA metabolic process|
|ribonucleoside bisphosphate metabolic process|
|purine nucleoside bisphosphate metabolic process|
|nucleoside bisphosphate metabolic process|
|coenzyme biosynthetic process|
|purine ribonucleotide biosynthetic process|
|purine nucleotide biosynthetic process|
|ribonucleotide biosynthetic process|
|ribose phosphate biosynthetic process|
|purine-containing compound biosynthetic process|
|sulfur compound biosynthetic process|
|cofactor biosynthetic process|
|nucleotide biosynthetic process|
|nucleoside phosphate biosynthetic process|
|coenzyme metabolic process|
|purine ribonucleotide metabolic process|
|ribonucleotide metabolic process|
|purine nucleotide metabolic process|
|ribose phosphate metabolic process|
|sulfur compound metabolic process|
|purine-containing compound metabolic process|
|mitochondrial matrix|
|cofactor metabolic process|
|nucleotide metabolic process|
|nucleoside phosphate metabolic process|
|amide biosynthetic process|
|monocarboxylic acid metabolic process|
|organophosphate biosynthetic process|
|nucleobase-containing small molecule metabolic process|
|carbohydrate derivative biosynthetic process|
|cellular amide metabolic process|
|organophosphate metabolic process|
|carboxylic acid metabolic process|
|oxoacid metabolic process|
|organic acid metabolic process|
|carbohydrate derivative metabolic process|
|nucleobase-containing compound biosynthetic process|
|heterocycle biosynthetic process|
|aromatic compound biosynthetic process|
|organic cyclic compound biosynthetic process|
|organonitrogen compound biosynthetic process|
|cellular nitrogen compound biosynthetic process|
|small molecule metabolic 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:exp248|UM0131023 0.05μM R05 exp248]]|2.06|
|[[:results:exp295|Pyronaridine 1μM R06 exp295]]|2.12|
|[[:results:exp292|Menadione 5μM R06 exp292]]|2.22|
|[[:results:exp274|Citral 50μM R06 exp274]]|2.85|
|[[:results:exp102|Nifuroxazide 5μM R03 exp102]]|4.13|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:p:pdha1|PDHA1]]|0.593|
|[[:human genes:p:pdhb|PDHB]]|0.533|
|[[:human genes:d:dlat|DLAT]]|0.488|
|[[:human genes:m:mpc1|MPC1]]|0.487|
|[[:human genes:c:cs|CS]]|0.406|
</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>**: 15411
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 3.96 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='PDHX Expression in NALM6 Cells: 3.96'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>