CCDC111 [The Human Chemical-Genetic Interaction Map Project]

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======= CCDC111 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: PRIMPOL
  * **<color #00a2e8>Official Name</color>**: primase and DNA directed polymerase
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=201973|201973]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q96LW4|Q96LW4]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CCDC111&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CCDC111|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/615421|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a DNA primase-polymerase that belongs to a superfamily of archaeao-eukaryotic primases. Members of this family have primase activity, catalyzing the synthesis of short RNA primers that serve as starting points for DNA synthesis, as well as DNA polymerase activity. The encoded protein facilitates DNA damage tolerance by mediating uninterrupted fork progression after UV irradiation and reinitiating DNA synthesis. An allelic variant in this gene is associated with myopia 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. 
  * **<color #00a2e8>UniProt Summary</color>**:  DNA primase and DNA polymerase able to initiate de novo DNA synthesis using dNTPs. Shows a high capacity to tolerate DNA damage lesions such as 8oxoG and abasic sites in DNA. Involved in translesion synthesis via its primase activity by mediating uninterrupted fork progression after programmed or damage-induced fork arrest and by reinitiating DNA synthesis after dNTP depletion. Required for mitochondrial DNA (mtDNA) synthesis, suggesting it may be involved in DNA tolerance during the replication of mitochondrial DNA. Has non-overlapping function with POLH. {ECO:0000269|PubMed:24126761, ECO:0000269|PubMed:24207056, ECO:0000269|PubMed:24240614, ECO:0000269|PubMed:24267451}.

<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'>
|Herpes UL52|
|DNA primase S|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|DNA primase activity|
|DNA replication, synthesis of RNA primer|
|mitochondrial DNA replication|
|DNA-directed DNA polymerase activity|
|replication fork processing|
|DNA-dependent DNA replication maintenance of fidelity|
|translesion synthesis|
|DNA synthesis involved in DNA repair|
|postreplication repair|
|manganese ion binding|
|DNA biosynthetic process|
|DNA-dependent DNA replication|
|response to UV|
|DNA replication|
|response to light stimulus|
|mitochondrial matrix|
|chromatin binding|
|response to radiation|
|DNA repair|
|RNA biosynthetic process|
|DNA metabolic process|
|cellular response to DNA damage stimulus|
|nucleobase-containing compound biosynthetic process|
|response to abiotic stimulus|
|heterocycle biosynthetic process|
|aromatic compound biosynthetic process|
|organic cyclic compound biosynthetic process|
|cellular nitrogen compound biosynthetic process|
|RNA metabolic process|
|cellular response to stress|
|cellular macromolecule biosynthetic process|
|macromolecule biosynthetic 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:exp78|Pterostilbene 16μM R02 exp78]]|-4.3|
|[[:results:exp329|Hydroxyurea 100μM R07 exp329]]|-3.26|
|[[:results:exp446|4-Nitroquinoline-1-oxide 0.5μM R08 exp446]]|-3.23|
|[[:results:exp147|Resveratrol 16μM R03 exp147]]|-2.22|
|[[:results:exp440|Aphidicolin 0.4μM R08 exp440]]|-2.15|
|[[:results:exp332|Adefovir 20μM R07 exp332]]|-2.07|
|[[:results:exp189|Temozolomide 200μM R04 exp189]]|-1.92|
|[[:results:exp345|Cidofovir 10μM R07 exp345]]|-1.76|
|[[:results:exp303|39°C R06 exp303]]|1.76|
|[[:results:exp106|UM131593 0.2μM R03 exp106]]|1.79|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:g:gtpbp2|GTPBP2]]|0.448|
</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>**: 17738
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.27 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='CCDC111 Expression in NALM6 Cells: 4.27'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>