======= PCBD1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: PCBD1
  * **<color #00a2e8>Official Name</color>**: pterin-4 alpha-carbinolamine dehydratase 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=5092|5092]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P61457|P61457]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PCBD1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PCBD1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/126090|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription. Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity.

<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'>
|Pterin 4a|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|4-alpha-hydroxytetrahydrobiopterin dehydratase activity|
|phenylalanine 4-monooxygenase activity|
|tetrahydrobiopterin metabolic process|
|tetrahydrobiopterin biosynthetic process|
|L-phenylalanine metabolic process|
|L-phenylalanine catabolic process|
|erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process|
|erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process|
|pteridine-containing compound biosynthetic process|
|diol biosynthetic process|
|diol metabolic process|
|regulation of protein homodimerization activity|
|aromatic amino acid family catabolic process|
|pteridine-containing compound metabolic process|
|aromatic amino acid family metabolic process|
|polyol biosynthetic process|
|protein homotetramerization|
|alpha-amino acid catabolic process|
|protein heterooligomerization|
|polyol metabolic process|
|alcohol biosynthetic process|
|cellular amino acid catabolic process|
|coenzyme biosynthetic process|
|drug catabolic process|
|protein tetramerization|
|organic hydroxy compound biosynthetic process|
|alpha-amino acid metabolic process|
|cofactor biosynthetic process|
|regulation of protein binding|
|coenzyme metabolic process|
|carboxylic acid catabolic process|
|organic acid catabolic process|
|transcription coactivator activity|
|cellular amino acid metabolic process|
|alcohol metabolic process|
|protein homooligomerization|
|regulation of binding|
|small molecule catabolic process|
|cofactor metabolic process|
|aromatic compound catabolic process|
|organic hydroxy compound metabolic process|
|organic cyclic compound catabolic process|
|drug metabolic process|
|protein complex oligomerization|
|small molecule biosynthetic process|
|carboxylic acid metabolic process|
|oxidation-reduction process|
|oxoacid metabolic process|
|organic acid metabolic process|
|organonitrogen compound catabolic process|
|identical protein binding|
|heterocycle biosynthetic process|
|aromatic compound biosynthetic process|
|organic cyclic compound biosynthetic process|
|organonitrogen compound biosynthetic process|
|positive regulation of transcription, DNA-templated|
|protein-containing complex assembly|
|cellular nitrogen compound biosynthetic process|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|positive regulation of RNA metabolic process|
|small molecule metabolic process|
|organic substance catabolic process|
|cellular catabolic process|
|protein-containing complex subunit organization|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|positive regulation of biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' 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:exp539|42°C R08 exp539]]|1.91|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/726
^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|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 6183
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -0.45 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='PCBD1 Expression in NALM6 Cells: -0.45'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>