======= MKKS =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: MKKS
  * **<color #00a2e8>Official Name</color>**: McKusick-Kaufman syndrome
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=8195|8195]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9NPJ1|Q9NPJ1]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=MKKS&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MKKS|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/604896|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis. {ECO:0000269|PubMed:20080638, ECO:0000269|PubMed:28753627}.

<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'>
|Cpn60 TCP1|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|pigment granule aggregation in cell center|
|kinociliary basal body|
|negative regulation of appetite by leptin-mediated signaling pathway|
|regulation of cilium beat frequency involved in ciliary motility|
|regulation of cilium movement involved in cell motility|
|convergent extension involved in gastrulation|
|leptin-mediated signaling pathway|
|artery smooth muscle contraction|
|regulation of cilium beat frequency|
|tonic smooth muscle contraction|
|detection of mechanical stimulus involved in sensory perception of sound|
|negative regulation of response to food|
|negative regulation of appetite|
|convergent extension|
|negative regulation of response to nutrient levels|
|negative regulation of response to extracellular stimulus|
|regulation of cilium movement|
|vascular smooth muscle contraction|
|chaperone-mediated protein complex assembly|
|cellular response to leptin stimulus|
|striatum development|
|regulation of response to food|
|melanosome transport|
|response to leptin|
|establishment of melanosome localization|
|pigment granule transport|
|regulation of cilium-dependent cell motility|
|establishment of pigment granule localization|
|regulation of appetite|
|subpallium development|
|melanosome localization|
|regulation of response to nutrient levels|
|regulation of response to extracellular stimulus|
|pigment granule localization|
|detection of mechanical stimulus involved in sensory perception|
|regulation of microtubule-based movement|
|vasodilation|
|vasoconstriction|
|positive regulation of multicellular organism growth|
|brain morphogenesis|
|RNA polymerase II repressing transcription factor binding|
|photoreceptor cell maintenance|
|negative regulation of blood vessel diameter|
|detection of mechanical stimulus|
|negative regulation of blood pressure|
|non-motile cilium assembly|
|negative regulation of GTPase activity|
|cellular pigmentation|
|face development|
|social behavior|
|intraspecies interaction between organisms|
|negative regulation of actin filament polymerization|
|smooth muscle contraction|
|positive regulation of blood vessel diameter|
|heart looping|
|regulation of multicellular organism growth|
|determination of heart left/right asymmetry|
|negative regulation of protein polymerization|
|embryonic heart tube morphogenesis|
|multi-organism behavior|
|retina homeostasis|
|embryonic heart tube development|
|regulation of stress fiber assembly|
|hippocampus development|
|intracellular|
|regulation of actomyosin structure organization|
|pigmentation|
|regulation of actin filament bundle assembly|
|motile cilium|
|fat cell differentiation|
|limbic system development|
|cerebral cortex development|
|determination of left/right symmetry|
|detection of external stimulus|
|detection of abiotic stimulus|
|determination of bilateral symmetry|
|specification of symmetry|
|negative regulation of supramolecular fiber organization|
|negative regulation of protein complex assembly|
|unfolded protein binding|
|ciliary basal body|
|negative regulation of cytoskeleton organization|
|regulation of blood vessel diameter|
|regulation of tube diameter|
|regulation of tube size|
|sensory perception of sound|
|spermatid development|
|spermatid differentiation|
|gastrulation|
|regulation of actin filament polymerization|
|sensory perception of mechanical stimulus|
|vascular process in circulatory system|
|positive regulation of developmental growth|
|cartilage development|
|pallium development|
|establishment of vesicle localization|
|regulation of blood pressure|
|regulation of actin polymerization or depolymerization|
|regulation of actin filament length|
|vesicle localization|
|tissue homeostasis|
|gonad development|
|response to mechanical stimulus|
|development of primary sexual characteristics|
|visual perception|
|regulation of microtubule-based process|
|regulation of protein polymerization|
|connective tissue development|
|sensory perception of light stimulus|
|protein folding|
|heart morphogenesis|
|muscle contraction|
|germ cell development|
|telencephalon development|
|positive regulation of growth|
|regulation of actin filament organization|
|sex differentiation|
|embryonic organ morphogenesis|
|muscle system process|
|epithelial tube morphogenesis|
|multicellular organismal homeostasis|
|regulation of developmental growth|
|anatomical structure homeostasis|
|regulation of actin cytoskeleton organization|
|cilium assembly|
|regulation of supramolecular fiber organization|
|cellular process involved in reproduction in multicellular organism|
|establishment of organelle localization|
|negative regulation of response to external stimulus|
|cilium organization|
|negative regulation of organelle organization|
|regulation of cellular component size|
|forebrain development|
|regulation of actin filament-based process|
|blood circulation|
|circulatory system process|
|reproductive structure development|
|reproductive system development|
|morphogenesis of an epithelium|
|embryonic organ development|
|pattern specification process|
|plasma membrane bounded cell projection assembly|
|regulation of protein complex assembly|
|negative regulation of hydrolase activity|
|cell projection assembly|
|sensory perception of smell|
|regulation of GTPase activity|
|centrosome|
|skeletal system development|
|response to nutrient levels|
|regulation of anatomical structure size|
|heart development|
|response to extracellular stimulus|
|sensory perception of chemical stimulus|
|regulation of cytoskeleton organization|
|detection of stimulus involved in sensory perception|
|spermatogenesis|
|male gamete generation|
|tissue morphogenesis|
|embryonic morphogenesis|
|behavior|
|organelle localization|
|cellular response to hormone stimulus|
|tube morphogenesis|
|developmental process involved in reproduction|
|regulation of growth|
|cytokine-mediated signaling pathway|
|detection of stimulus|
|gamete generation|
|negative regulation of cellular component organization|
|brain development|
|organelle assembly|
|head development|
|negative regulation of catalytic activity|
|multicellular organismal reproductive process|
|sexual reproduction|
|cellular protein-containing complex assembly|
|multicellular organism reproduction|
|tube development|
|circulatory system development|
|response to hormone|
|regulation of cell motility|
|animal organ morphogenesis|
|regulation of cellular component biogenesis|
|sensory perception|
|embryo development|
|central nervous system development|
|regulation of locomotion|
|regulation of cellular component movement|
|multi-organism reproductive process|
|cellular response to cytokine stimulus|
|regulation of response to external stimulus|
|response to cytokine|
|epithelium development|
|plasma membrane bounded cell projection organization|
|negative regulation of molecular function|
|cell projection organization|
|response to abiotic stimulus|
|cellular response to endogenous stimulus|
|regulation of hydrolase activity|
|regulation of organelle organization|
|positive regulation of developmental process|
|nervous system process|
|reproductive process|
|reproduction|
|response to endogenous stimulus|
|ATP binding|
|intracellular transport|
|protein-containing complex assembly|
|negative regulation of response to stimulus|
|homeostatic process|
|cell development|
|negative regulation of gene expression|
|positive regulation of multicellular organismal process|
|tissue development|
|establishment of localization in cell|
|protein-containing complex subunit organization|
|system 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:exp11|CCCP 1μM R00 exp11]]|-1.88|
|[[:results:exp478|Doxorubicin 0.02μM R08 exp478]]|1.78|
</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: 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>**: 12893
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.71 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='MKKS Expression in NALM6 Cells: 4.71'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>