CASC5 [The Human Chemical-Genetic Interaction Map Project]

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======= CASC5 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: KNL1
  * **<color #00a2e8>Official Name</color>**: kinetochore scaffold 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=57082|57082]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8NG31|Q8NG31]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CASC5&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CASC5|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/609173|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitously expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jan 2013]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Performs two crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Required for attachment of the kinetochores to the spindle microtubules. Directly links BUB1 and BUB1B to kinetochores. Part of the MIS12 complex, which may be fundamental for kinetochore formation and proper chromosome segregation during mitosis. Acts in coordination with CENPK to recruit the NDC80 complex to the outer kinetochore. {ECO:0000269|PubMed:15502821, ECO:0000269|PubMed:17981135, ECO:0000269|PubMed:18045986}.

<button type='default' 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'>
No Pfam Domain information is available for this gene.
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|protein localization to kinetochore|
|protein localization to chromosome, centromeric region|
|acrosome assembly|
|attachment of spindle microtubules to kinetochore|
|CENP-A containing chromatin organization|
|CENP-A containing nucleosome assembly|
|chromatin remodeling at centromere|
|secretory granule organization|
|centromere complex assembly|
|DNA replication-independent nucleosome assembly|
|DNA replication-independent nucleosome organization|
|histone exchange|
|protein localization to chromosome|
|ATP-dependent chromatin remodeling|
|acrosomal vesicle|
|condensed chromosome kinetochore|
|cellular component assembly involved in morphogenesis|
|negative regulation of phosphatase activity|
|negative regulation of dephosphorylation|
|nucleosome assembly|
|chromatin assembly|
|spermatid development|
|chromatin assembly or disassembly|
|nucleosome organization|
|spermatid differentiation|
|chromatin remodeling|
|regulation of phosphatase activity|
|DNA packaging|
|protein-DNA complex assembly|
|regulation of dephosphorylation|
|nuclear chromosome segregation|
|protein-DNA complex subunit organization|
|germ cell development|
|chromosome segregation|
|nuclear body|
|DNA conformation change|
|vesicle organization|
|cellular process involved in reproduction in multicellular organism|
|endomembrane system organization|
|negative regulation of hydrolase activity|
|cell division|
|spermatogenesis|
|negative regulation of phosphate metabolic process|
|negative regulation of phosphorus metabolic process|
|male gamete generation|
|developmental process involved in reproduction|
|gamete generation|
|chromatin organization|
|protein localization to organelle|
|organelle assembly|
|negative regulation of catalytic activity|
|cellular component morphogenesis|
|multicellular organismal reproductive process|
|sexual reproduction|
|cellular protein-containing complex assembly|
|multicellular organism reproduction|
|anatomical structure formation involved in morphogenesis|
|multi-organism reproductive process|
|cell cycle process|
|chromosome organization|
|negative regulation of molecular function|
|regulation of hydrolase activity|
|cell cycle|
|reproductive process|
|reproduction|
|protein-containing complex assembly|
|cellular protein localization|
|cellular macromolecule localization|
|cell development|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|protein-containing complex subunit organization|
</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:exp517|Quercetin 20μM R08 exp517]]|-2.33|
|[[:results:exp474|CR131-b 0.005μM R08 exp474]]|-1.97|
|[[:results:exp425|Beta-Estradiol 0.55μM R07 exp425]]|1.71|
|[[:results:exp150|SGC0649 7μM R03 exp150]]|1.75|
|[[:results:exp184|Ixabepilone 0.004 to 0.005μM on day4 R04 exp184]]|1.77|
|[[:results:exp42|BI-6727 0.001μM R01 exp42]]|1.86|
|[[:results:exp49|NFN1 0.1μM R01 exp49]]|1.95|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:p:polr2j3|POLR2J3]]|0.563|
|[[:human genes:c:ckap5|CKAP5]]|0.467|
|[[:human genes:t:tbc1d3g|TBC1D3G]]|0.458|
|[[:human genes:c:cdca3|CDCA3]]|0.436|
|[[:human genes:r:rrp1|RRP1]]|0.434|
|[[:human genes:r:rpl38|RPL38]]|0.429|
|[[:human genes:p:psma7|PSMA7]]|0.421|
|[[:human genes:s:spc25|SPC25]]|0.416|
|[[:human genes:t:tbc1d3h|TBC1D3H]]|0.415|
|[[:human genes:d:dhx9|DHX9]]|0.414|
|[[:human genes:t:tbc1d3c|TBC1D3C]]|0.407|
|[[:human genes:t:tceb3cl2|TCEB3CL2]]|0.406|
|[[:human genes:n:nup43|NUP43]]|0.404|
|[[:human genes:y:ythdc1|YTHDC1]]|0.403|
|[[:human genes:r:riok2|RIOK2]]|0.403|
|[[:human genes:t:tfip11|TFIP11]]|0.402|
|[[:human genes:t:tbc1d3l|TBC1D3L]]|0.4|
|[[:human genes:t:tbc1d3k|TBC1D3K]]|0.4|
</modal>

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

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 1076
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 8.08 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='CASC5 Expression in NALM6 Cells: 8.08'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>