======= RTEL1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: RTEL1
  * **<color #00a2e8>Official Name</color>**: regulator of telomere elongation helicase 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=51750|51750]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9NZ71|Q9NZ71]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=RTEL1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20RTEL1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/608833|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]. 
  * **<color #00a2e8>UniProt Summary</color>**:  ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as disassembly of D loop recombination intermediates. Also disassembles T loops and prevents telomere fragility by counteracting telomeric G4-DNA structures, which together ensure the dynamics and stability of the telomere. {ECO:0000255|HAMAP- Rule:MF_03065, ECO:0000269|PubMed:18957201, ECO:0000269|PubMed:23453664, ECO:0000269|PubMed:24009516}.

<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'>
|DEAD 2|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|strand displacement|
|positive regulation of telomeric loop disassembly|
|regulation of telomeric loop disassembly|
|mitotic telomere maintenance via semi-conservative replication|
|regulation of telomere maintenance in response to DNA damage|
|negative regulation of telomere maintenance in response to DNA damage|
|negative regulation of t-circle formation|
|regulation of t-circle formation|
|telomere maintenance in response to DNA damage|
|telomeric loop disassembly|
|positive regulation of telomere capping|
|DNA polymerase binding|
|telomere maintenance via semi-conservative replication|
|regulation of telomere capping|
|replication fork processing|
|negative regulation of telomere maintenance|
|positive regulation of telomere maintenance via telomere lengthening|
|DNA-dependent DNA replication maintenance of fidelity|
|4 iron, 4 sulfur cluster binding|
|nuclear DNA replication|
|cell cycle DNA replication|
|negative regulation of DNA recombination|
|regulation of double-strand break repair via homologous recombination|
|positive regulation of telomere maintenance|
|chromosome, telomeric region|
|DNA helicase activity|
|regulation of telomere maintenance via telomere lengthening|
|regulation of double-strand break repair|
|negative regulation of response to DNA damage stimulus|
|regulation of telomere maintenance|
|telomere maintenance|
|telomere organization|
|regulation of DNA recombination|
|DNA duplex unwinding|
|DNA geometric change|
|DNA-dependent DNA replication|
|negative regulation of DNA metabolic process|
|regulation of DNA repair|
|negative regulation of chromosome organization|
|positive regulation of chromosome organization|
|positive regulation of DNA metabolic process|
|DNA replication|
|regulation of response to DNA damage stimulus|
|DNA recombination|
|DNA conformation change|
|anatomical structure homeostasis|
|regulation of chromosome organization|
|regulation of DNA metabolic process|
|negative regulation of organelle organization|
|DNA repair|
|mitotic cell cycle process|
|positive regulation of organelle organization|
|mitotic cell cycle|
|negative regulation of cellular component organization|
|regulation of cellular response to stress|
|DNA metabolic process|
|cellular response to DNA damage stimulus|
|cellular homeostasis|
|regulation of cellular component biogenesis|
|cell cycle process|
|chromosome organization|
|positive regulation of cellular component organization|
|regulation of organelle organization|
|cell cycle|
|negative regulation of nucleobase-containing compound metabolic process|
|DNA binding|
|regulation of response to stress|
|ATP binding|
|negative regulation of response to stimulus|
|homeostatic process|
|cellular response to stress|
|cellular macromolecule biosynthetic process|
|macromolecule biosynthetic process|
|positive regulation of nucleobase-containing compound metabolic 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:exp100|NFN1 1μM R03 exp100]]|-2.18|
|[[:results:exp346|CoCl2 18μM R07 exp346]]|-1.88|
|[[:results:exp517|Quercetin 20μM R08 exp517]]|-1.78|
|[[:results:exp321|ABT-702 5μM plus Deferoxamine 11μM R07 exp321]]|-1.73|
|[[:results:exp354|Diepoxybutane 3μM R07 exp354]]|-1.73|
|[[:results:exp211|AICAR 240μM R05 exp211]]|-1.72|
|[[:results:exp301|VER-155008 3.9μM R06 exp301]]|1.75|
</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: 16/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|2/28|
|blood|0/28|
|bone|3/26|
|breast|1/33|
|central nervous system|2/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|1/16|
|kidney|0/21|
|liver|0/20|
|lung|2/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|1/24|
|peripheral nervous system|1/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|1/24|
|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>**: 462
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.96 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='RTEL1 Expression in NALM6 Cells: 4.96'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>