DKC1 [The Human Chemical-Genetic Interaction Map Project]

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======= DKC1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: DKC1
  * **<color #00a2e8>Official Name</color>**: dyskerin pseudouridine synthase 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1736|1736]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O60832|O60832]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=DKC1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20DKC1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/300126|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Isoform 1: Required for ribosome biogenesis and telomere maintenance. Probable catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.

<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'>
|PUA|
|DKCLD|
|TruB N|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|box H/ACA snoRNA processing|
|enzyme-directed rRNA pseudouridine synthesis|
|box H/ACA snoRNA 3-end processing|
|box H/ACA snoRNA metabolic process|
|snRNA pseudouridine synthesis|
|telomerase RNA stabilization|
|box H/ACA telomerase RNP complex|
|box H/ACA scaRNP complex|
|scaRNA localization to Cajal body|
|RNA localization to Cajal body|
|box H/ACA snoRNP complex|
|mRNA pseudouridine synthesis|
|RNA localization to nucleus|
|snRNA modification|
|box H/ACA snoRNA binding|
|telomerase activity|
|rRNA pseudouridine synthesis|
|regulation of protein localization to Cajal body|
|positive regulation of protein localization to Cajal body|
|positive regulation of establishment of protein localization to telomere|
|regulation of establishment of protein localization to telomere|
|regulation of establishment of protein localization to chromosome|
|positive regulation of protein localization to chromosome, telomeric region|
|snoRNA 3-end processing|
|pseudouridine synthase activity|
|regulation of protein localization to chromosome, telomeric region|
|snoRNA processing|
|positive regulation of telomerase RNA localization to Cajal body|
|snoRNA metabolic process|
|pseudouridine synthesis|
|regulation of telomerase RNA localization to Cajal body|
|telomerase holoenzyme complex|
|mRNA modification|
|telomerase RNA binding|
|telomere maintenance via telomerase|
|telomere maintenance via telomere lengthening|
|positive regulation of telomere maintenance via telomerase|
|RNA-dependent DNA biosynthetic process|
|positive regulation of telomerase activity|
|rRNA modification|
|positive regulation of telomere maintenance via telomere lengthening|
|snRNA metabolic process|
|RNA stabilization|
|ncRNA 3-end processing|
|positive regulation of telomere maintenance|
|regulation of telomerase activity|
|regulation of telomere maintenance via telomerase|
|negative regulation of RNA catabolic process|
|regulation of telomere maintenance via telomere lengthening|
|positive regulation of DNA biosynthetic process|
|positive regulation of protein localization to nucleus|
|regulation of telomere maintenance|
|telomere maintenance|
|telomere organization|
|DNA biosynthetic process|
|regulation of DNA biosynthetic process|
|regulation of protein localization to nucleus|
|fibrillar center|
|RNA 3-end processing|
|RNA modification|
|positive regulation of chromosome organization|
|regulation of RNA stability|
|positive regulation of DNA metabolic process|
|rRNA processing|
|RNA localization|
|rRNA metabolic process|
|negative regulation of cellular catabolic process|
|ribosome biogenesis|
|negative regulation of catabolic process|
|positive regulation of cellular protein localization|
|anatomical structure homeostasis|
|regulation of chromosome organization|
|regulation of DNA metabolic process|
|ncRNA processing|
|ribonucleoprotein complex biogenesis|
|positive regulation of establishment of protein localization|
|ncRNA metabolic process|
|posttranscriptional regulation of gene expression|
|regulation of cellular protein localization|
|positive regulation of organelle organization|
|positive regulation of transferase activity|
|mRNA metabolic process|
|DNA metabolic process|
|regulation of establishment of protein localization|
|regulation of cellular catabolic process|
|nucleolus|
|RNA processing|
|regulation of cellular localization|
|regulation of transferase activity|
|regulation of catabolic process|
|regulation of protein localization|
|chromosome organization|
|nucleobase-containing compound biosynthetic process|
|heterocycle biosynthetic process|
|aromatic compound biosynthetic process|
|positive regulation of cellular component organization|
|regulation of organelle organization|
|organic cyclic compound biosynthetic process|
|negative regulation of RNA metabolic process|
|RNA binding|
|positive regulation of catalytic activity|
|negative regulation of nucleobase-containing compound metabolic process|
|cellular nitrogen compound biosynthetic process|
|homeostatic process|
|RNA metabolic 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|
|gene expression|
|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:exp379|MSC2530818 10μM R07 exp379]]|-3.36|
|[[:results:exp331|A-769662 20μM R07 exp331]]|-3.08|
|[[:results:exp36|TRAIL 50ng/ml R00 exp36]]|-2.73|
|[[:results:exp341|BRD2 inhibitor II 20μM R07 exp341]]|-2.69|
|[[:results:exp336|Asunaprenir 3μM R07 exp336]]|-2.57|
|[[:results:exp409|THZ531 0.11μM R07 exp409]]|-2.56|
|[[:results:exp318|ABT-702 5μM R07 exp318]]|-2.47|
|[[:results:exp390|Pifithrin-alpha 20μM R07 exp390]]|-2.41|
|[[:results:exp14|Cycloheximide 0.02μM R00 exp14]]|-2.34|
|[[:results:exp343|Centrinone 0.5μM R07 exp343]]|-2.25|
|[[:results:exp125|GSK461364A 0.005μM R03 exp125]]|-2.23|
|[[:results:exp407|Thapsigargin 0.005μM R07 exp407]]|-2.16|
|[[:results:exp412|THZ531 0.11 to 0.125 to 0.35μM on day4 then day6 R07 exp412]]|-2.08|
|[[:results:exp11|CCCP 1μM R00 exp11]]|-2.07|
|[[:results:exp389|PF-06409577 20μM R07 exp389]]|-2.03|
|[[:results:exp352|Dexamethasone 0.006 to 0.015μM on day4 R07 exp352]]|-2|
|[[:results:exp426|FBS-Wisent 0.1 R07 exp426]]|-1.99|
|[[:results:exp232|Epothilone-D 0.004 to 0.006μM on day4 R05 exp232]]|-1.95|
|[[:results:exp494|Isoniazid 100μM R08 exp494]]|-1.95|
|[[:results:exp229|Dimethyloxaloylglycine 100μM R05 exp229]]|-1.88|
|[[:results:exp144|PFI-3 10μM R03 exp144]]|-1.85|
|[[:results:exp365|I-BRD9 4μM R07 exp365]]|-1.82|
|[[:results:exp225|Celastrol 0.12μM R05 exp225]]|-1.78|
|[[:results:exp308|Rapamycin 2μM plus FK-506 5μM R07 exp308]]|-1.75|
|[[:results:exp326|CCT251545 20μM R07 exp326]]|-1.74|
|[[:results:exp230|Epigallocatechin gallate 20μM R05 exp230]]|-1.74|
|[[:results:exp421|VHL-ligand-1 20μM R07 exp421]]|-1.73|
|[[:results:exp359|FK-506 30μM R07 exp359]]|-1.72|
|[[:results:exp374|Latrunculin-B 10μM R07 exp374]]|-1.71|
|[[:results:exp146|Quinacrine 2.5μM R03 exp146]]|-1.71|
|[[:results:exp183|IU1-C 25μM R04 exp183]]|1.73|
|[[:results:exp26|Oligomycin-A 20μM R00 exp26]]|2.07|
|[[:results:exp208|Vinblastine 0.015μM R05 exp208]]|2.39|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:r:rnmt|RNMT]]|0.46|
|[[:human genes:h:hars|HARS]]|0.44|
|[[:human genes:h:hspd1|HSPD1]]|0.438|
|[[:human genes:g:gmppb|GMPPB]]|0.429|
|[[:human genes:c:cct7|CCT7]]|0.41|
|[[:human genes:s:spcs3|SPCS3]]|0.405|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 678/694
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|1/1|
|909776.0|1/1|
|bile duct|28/28|
|blood|25/26|
|bone|26/26|
|breast|28/30|
|central nervous system|49/49|
|cervix|4/4|
|colorectal|17/17|
|esophagus|11/11|
|fibroblast|1/1|
|gastric|14/14|
|kidney|17/18|
|liver|18/19|
|lung|71/72|
|lymphocyte|15/16|
|ovary|25/25|
|pancreas|22/22|
|peripheral nervous system|15/15|
|plasma cell|11/12|
|prostate|1/1|
|skin|20/20|
|soft tissue|8/9|
|thyroid|2/2|
|upper aerodigestive|22/22|
|urinary tract|28/28|
|uterus|4/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 4
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 7.67 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='DKC1 Expression in NALM6 Cells: 7.67'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>