======= RAD50 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: RAD50
  * **<color #00a2e8>Official Name</color>**: RAD50 double strand break repair protein
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=10111|10111]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q92878|Q92878]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=RAD50&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20RAD50|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/604040|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease activity and double-strand- specific 3'-5' exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict the nuclease activity of MRE11 to prevent nucleolytic degradation past a given point (PubMed:11741547, PubMed:9590181, PubMed:9705271, PubMed:9651580). The complex may also be required for DNA damage signaling via activation of the ATM kinase (PubMed:15064416). In telomeres the MRN complex may modulate t-loop formation (PubMed:10888888). {ECO:0000269|PubMed:10888888, ECO:0000269|PubMed:11741547, ECO:0000269|PubMed:15064416, ECO:0000269|PubMed:9590181, ECO:0000269|PubMed:9651580, ECO:0000269|PubMed:9705271}.

<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'>
|SMC N|
|Rad50 zn hook|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|telomeric 3 overhang formation|
|single-stranded telomeric DNA binding|
|regulation of mitotic recombination|
|Mre11 complex|
|negative regulation of telomere capping|
|adenylate kinase activity|
|double-stranded telomeric DNA binding|
|single-stranded DNA endodeoxyribonuclease activity|
|G-quadruplex DNA binding|
|telomere maintenance via recombination|
|nucleoside monophosphate phosphorylation|
|mitotic recombination|
|3-5 exonuclease activity|
|telomere capping|
|telomere maintenance via telomerase|
|DNA strand elongation|
|DNA double-strand break processing|
|positive regulation of protein autophosphorylation|
|regulation of telomere capping|
|telomere maintenance via telomere lengthening|
|condensed nuclear chromosome|
|RNA-dependent DNA biosynthetic process|
|negative regulation of telomere maintenance|
|regulation of protein autophosphorylation|
|positive regulation of telomere maintenance|
|reciprocal meiotic recombination|
|homologous recombination|
|double-strand break repair via nonhomologous end joining|
|site of double-strand break|
|DNA helicase activity|
|non-recombinational repair|
|chromosome organization involved in meiotic cell cycle|
|nucleoside monophosphate metabolic process|
|protein binding, bridging|
|regulation of telomere maintenance|
|double-strand break repair via homologous recombination|
|telomere maintenance|
|recombinational repair|
|telomere organization|
|regulation of DNA recombination|
|nuclear chromosome, telomeric region|
|meiosis I|
|DNA biosynthetic process|
|DNA duplex unwinding|
|meiosis I cell cycle process|
|DNA geometric change|
|negative regulation of DNA metabolic process|
|negative regulation of chromosome organization|
|meiotic nuclear division|
|meiotic cell cycle process|
|positive regulation of chromosome organization|
|double-strand break repair|
|regulation of signal transduction by p53 class mediator|
|positive regulation of DNA metabolic process|
|DNA replication|
|DNA recombination|
|meiotic cell cycle|
|nuclear chromatin|
|nucleotide biosynthetic process|
|nucleoside phosphate biosynthetic process|
|nuclear division|
|DNA conformation change|
|nucleic acid phosphodiester bond hydrolysis|
|organelle fission|
|anatomical structure homeostasis|
|regulation of chromosome organization|
|regulation of DNA metabolic process|
|negative regulation of organelle organization|
|nucleotide metabolic process|
|nucleoside phosphate metabolic process|
|DNA repair|
|organophosphate biosynthetic process|
|nucleobase-containing small molecule metabolic process|
|positive regulation of kinase activity|
|positive regulation of organelle organization|
|positive regulation of transferase activity|
|viral process|
|negative regulation of cellular component organization|
|DNA metabolic process|
|cellular response to DNA damage stimulus|
|symbiotic process|
|interspecies interaction between organisms|
|regulation of kinase activity|
|organophosphate metabolic process|
|regulation of transferase activity|
|cell cycle process|
|positive regulation of protein phosphorylation|
|positive regulation of phosphorylation|
|chromosome organization|
|nucleobase-containing compound biosynthetic process|
|positive regulation of phosphorus metabolic process|
|positive regulation of phosphate metabolic process|
|heterocycle biosynthetic process|
|aromatic compound biosynthetic process|
|positive regulation of cellular component organization|
|positive regulation of protein modification process|
|regulation of organelle organization|
|organic cyclic compound biosynthetic process|
|cell cycle|
|reproductive process|
|reproduction|
|positive regulation of catalytic activity|
|negative regulation of nucleobase-containing compound metabolic process|
|regulation of protein phosphorylation|
|DNA binding|
|ATP binding|
|regulation of phosphorylation|
|positive regulation of cellular protein metabolic process|
|cellular nitrogen compound biosynthetic process|
|homeostatic process|
|cellular response to stress|
|positive regulation of protein metabolic process|
|cellular macromolecule biosynthetic process|
|small molecule metabolic process|
|macromolecule biosynthetic process|
|positive regulation of molecular function|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|regulation of intracellular signal transduction|
|regulation of protein modification process|
|positive regulation of nucleobase-containing compound metabolic process|
|membrane|
</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:exp345|Cidofovir 10μM R07 exp345]]|-2.01|
|[[:results:exp291|LLY-284 2.6μM R06 exp291]]|-1.85|
|[[:results:exp379|MSC2530818 10μM R07 exp379]]|-1.8|
|[[:results:exp245|UM0011500 5μM R05 exp245]]|-1.72|
|[[:results:exp358|FK-506 5μM R07 exp358]]|-1.7|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:a:atm|ATM]]|0.534|
|[[:human genes:t:ten1|TEN1]]|0.497|
|[[:human genes:n:nbn|NBN]]|0.493|
|[[:human genes:r:rtcb|RTCB]]|0.49|
|[[:human genes:g:gemin8|GEMIN8]]|0.489|
|[[:human genes:c:c15orf41|C15orf41]]|0.468|
|[[:human genes:t:thg1l|THG1L]]|0.462|
|[[:human genes:a:adsl|ADSL]]|0.458|
|[[:human genes:g:gemin6|GEMIN6]]|0.454|
|[[:human genes:s:srp14|SRP14]]|0.45|
|[[:human genes:a:atxn10|ATXN10]]|0.444|
|[[:human genes:r:rabggtb|RABGGTB]]|0.442|
|[[:human genes:n:nae1|NAE1]]|0.419|
|[[:human genes:a:alg1|ALG1]]|0.417|
|[[:human genes:g:gmppb|GMPPB]]|0.41|
|[[:human genes:r:rpp21|RPP21]]|0.406|
|[[:human genes:u:uhrf1|UHRF1]]|0.404|
|[[:human genes:e:eno1|ENO1]]|0.402|
|[[:human genes:d:dpagt1|DPAGT1]]|0.401|
</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>**: 1349
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.08 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='RAD50 Expression in NALM6 Cells: 6.08'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>