NDUFA12 [The Human Chemical-Genetic Interaction Map Project]

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======= NDUFA12 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: NDUFA12
  * **<color #00a2e8>Official Name</color>**: N/ADH:ubiquinone oxidoreductase subunit A12
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=55967|55967]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9UI09|Q9UI09]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=NDUFA12&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20NDUFA12|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/614530|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. {ECO:0000269|PubMed:27626371}.

<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'>
|NDUFA12|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|respiratory gaseous exchange by respiratory system|
|NADH dehydrogenase (ubiquinone) activity|
|mitochondrial electron transport, NADH to ubiquinone|
|mitochondrial respiratory chain complex I|
|NADH dehydrogenase complex assembly|
|mitochondrial respiratory chain complex I assembly|
|electron transfer activity|
|mitochondrial ATP synthesis coupled electron transport|
|ATP synthesis coupled electron transport|
|mitochondrial respiratory chain complex assembly|
|respiratory electron transport chain|
|oxidative phosphorylation|
|cellular respiration|
|electron transport chain|
|ATP metabolic process|
|energy derivation by oxidation of organic compounds|
|response to oxidative stress|
|mitochondrial inner membrane|
|generation of precursor metabolites and energy|
|mitochondrion organization|
|cellular protein-containing complex assembly|
|oxidation-reduction process|
|mitochondrion|
|phosphorylation|
|protein-containing complex assembly|
|protein-containing complex subunit organization|
</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:exp170|Metformin 100 to 150μM on day4 R04 exp170]]|1.77|
|[[:results:exp249|Vinorelbine 0.001μM R05 exp249]]|1.89|
|[[:results:exp233|EPZ-5676 30μM R05 exp233]]|2.06|
|[[:results:exp274|Citral 50μM R06 exp274]]|2.31|
|[[:results:exp223|Cabazitaxel 0.001μM R05 exp223]]|2.74|
</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: 0/739
^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>**: 15453
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.51 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='NDUFA12 Expression in NALM6 Cells: 5.51'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>