======= POT1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: POT1
  * **<color #00a2e8>Official Name</color>**: protection of telomeres 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=25913|25913]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9NUX5|Q9NUX5]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=POT1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20POT1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606478|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. Is a component of the double-stranded telomeric DNA- binding TRF1 complex which is involved in the regulation of telomere length by cis-inhibition of telomerase. Also acts as a single-stranded telomeric DNA-binding protein and thus may act as a downstream effector of the TRF1 complex and may transduce information about telomere maintenance and/or length to the telomere terminus. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Binds to two or more telomeric single-stranded 5'-TTAGGG-3' repeats (G-strand) and with high specificity to a minimal telomeric single-stranded 5'- TAGGGTTAG-3' sequence. Binds telomeric single-stranded sequences internally or at proximity of a 3'-end. Its activity is TERT dependent but it does not increase TERT activity by itself. In contrast, the ACD-POT1 heterodimer enhances telomere elongation by increasing telomerase processivity. {ECO:0000269|PubMed:12768206, ECO:0000269|PubMed:12781132, ECO:0000269|PubMed:16166375, ECO:0000269|PubMed:17237768, ECO:0000269|PubMed:20231318}.

<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'>
|Telo bind|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|positive regulation of DNA strand elongation|
|G-rich single-stranded DNA binding|
|regulation of DNA strand elongation|
|positive regulation of DNA duplex unwinding|
|positive regulation of DNA helicase activity|
|8-hydroxy-2-deoxyguanosine DNA binding|
|telomeric G-quadruplex DNA binding|
|telomeric D-loop binding|
|telomere assembly|
|regulation of DNA helicase activity|
|regulation of DNA duplex unwinding|
|single-stranded telomeric DNA binding|
|telomerase inhibitor activity|
|establishment of protein localization to telomere|
|shelterin complex|
|positive regulation of helicase activity|
|DEAD/H-box RNA helicase binding|
|telomeric D-loop disassembly|
|nuclear telomere cap complex|
|G-rich strand telomeric DNA binding|
|regulation of helicase activity|
|negative regulation of telomerase activity|
|telomeric loop disassembly|
|protein localization to chromosome, telomeric region|
|establishment of protein localization to chromosome|
|telomere capping|
|negative regulation of telomere maintenance via telomerase|
|telomere maintenance via telomerase|
|negative regulation of telomere maintenance via telomere lengthening|
|telomeric DNA binding|
|telomere maintenance via telomere lengthening|
|positive regulation of telomere maintenance via telomerase|
|RNA-dependent DNA biosynthetic process|
|positive regulation of telomerase activity|
|positive regulation of telomere maintenance via telomere lengthening|
|negative regulation of telomere maintenance|
|negative regulation of DNA biosynthetic process|
|positive regulation of telomere maintenance|
|chromosome, telomeric region|
|regulation of telomerase activity|
|regulation of telomere maintenance via telomerase|
|positive regulation of ATPase activity|
|regulation of telomere maintenance via telomere lengthening|
|protein localization to chromosome|
|positive regulation of DNA biosynthetic process|
|regulation of ATPase activity|
|regulation of telomere maintenance|
|telomere maintenance|
|telomere organization|
|nuclear chromosome, telomeric region|
|DNA biosynthetic process|
|DNA duplex unwinding|
|regulation of DNA biosynthetic process|
|DNA geometric change|
|negative regulation of DNA metabolic process|
|negative regulation of chromosome organization|
|positive regulation of chromosome organization|
|positive regulation of DNA metabolic process|
|negative regulation of transferase activity|
|DNA conformation change|
|anatomical structure homeostasis|
|regulation of chromosome organization|
|regulation of DNA metabolic process|
|negative regulation of organelle organization|
|establishment of protein localization to organelle|
|positive regulation of organelle organization|
|positive regulation of transferase activity|
|negative regulation of cellular component organization|
|protein localization to organelle|
|DNA metabolic process|
|positive regulation of hydrolase activity|
|negative regulation of catalytic activity|
|regulation of transferase activity|
|chromosome organization|
|nucleobase-containing compound biosynthetic process|
|negative regulation of molecular function|
|heterocycle biosynthetic process|
|aromatic compound biosynthetic process|
|positive regulation of cellular component organization|
|regulation of hydrolase activity|
|regulation of organelle organization|
|organic cyclic compound biosynthetic process|
|negative regulation of cellular macromolecule biosynthetic process|
|positive regulation of catalytic activity|
|negative regulation of nucleobase-containing compound metabolic process|
|negative regulation of macromolecule biosynthetic process|
|negative regulation of cellular biosynthetic process|
|negative regulation of biosynthetic process|
|cellular protein localization|
|cellular macromolecule localization|
|establishment of protein localization|
|cellular nitrogen compound biosynthetic process|
|homeostatic process|
|cellular macromolecule biosynthetic process|
|macromolecule biosynthetic process|
|positive regulation of molecular function|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|positive regulation of cellular biosynthetic process|
|positive regulation of 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:exp144|PFI-3 10μM R03 exp144]]|-1.89|
|[[:results:exp121|Golgicide-A 2μM R03 exp121]]|-1.86|
|[[:results:exp53|Suberoylanilide-Hydroxamic-Acid 0.02μM R01 exp53]]|-1.83|
|[[:results:exp48|Mubritinib 0.2μM R01 exp48]]|-1.79|
|[[:results:exp5|Alpha-Amanitin 0.5μM R00 exp5]]|-1.72|
|[[:results:exp61|YM155 0.0002μM R01 exp61]]|-1.71|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:h:hgc6.3|HGC6.3]]|0.549|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 46/726
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|2/28|
|blood|4/28|
|bone|1/25|
|breast|3/33|
|central nervous system|6/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|1/13|
|fibroblast|0/1|
|gastric|0/15|
|kidney|1/21|
|liver|1/20|
|lung|5/75|
|lymphocyte|1/14|
|ovary|2/26|
|pancreas|2/24|
|peripheral nervous system|1/16|
|plasma cell|1/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/7|
|thyroid|0/2|
|upper aerodigestive|1/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 552
    * **<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='POT1 Expression in NALM6 Cells: 4.96'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>