MKS1 [The Human Chemical-Genetic Interaction Map Project]

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======= MKS1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: MKS1
  * **<color #00a2e8>Official Name</color>**: MKS transition zone complex subunit 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=54903|54903]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9NXB0|Q9NXB0]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=MKS1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MKS1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/609883|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology. {ECO:0000269|PubMed:17185389, ECO:0000269|PubMed:19515853, ECO:0000269|PubMed:26490104}.

<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'>
|B9|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation|
|common bile duct development|
|regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning|
|regulation of secondary heart field cardioblast proliferation|
|regulation of cardioblast proliferation|
|embryonic brain development|
|MKS complex|
|regulation of Wnt signaling pathway, planar cell polarity pathway|
|regulation of cell proliferation involved in heart morphogenesis|
|regulation of non-canonical Wnt signaling pathway|
|motile cilium assembly|
|cell surface receptor signaling pathway involved in heart development|
|epithelial structure maintenance|
|inner ear receptor cell stereocilium organization|
|regulation of animal organ formation|
|regulation of heart morphogenesis|
|inner ear receptor cell development|
|non-motile cilium assembly|
|inner ear receptor cell differentiation|
|mechanoreceptor differentiation|
|embryonic digit morphogenesis|
|smoothened signaling pathway|
|cardiac septum morphogenesis|
|regulation of smoothened signaling pathway|
|neural tube closure|
|tube closure|
|ciliary basal body-plasma membrane docking|
|primary neural tube formation|
|neural tube formation|
|cardiac septum development|
|regulation of establishment of planar polarity|
|determination of left/right symmetry|
|embryonic epithelial tube formation|
|determination of bilateral symmetry|
|specification of symmetry|
|embryonic limb morphogenesis|
|embryonic appendage morphogenesis|
|embryonic skeletal system development|
|cardiac chamber morphogenesis|
|regulation of embryonic development|
|hepaticobiliary system development|
|branching morphogenesis of an epithelial tube|
|epithelial tube formation|
|ciliary basal body|
|centriole|
|morphogenesis of embryonic epithelium|
|tube formation|
|limb morphogenesis|
|appendage morphogenesis|
|morphogenesis of a branching epithelium|
|neural tube development|
|morphogenesis of a branching structure|
|organelle localization by membrane tethering|
|cardiac chamber development|
|membrane docking|
|appendage development|
|regulation of morphogenesis of an epithelium|
|limb development|
|tissue homeostasis|
|inner ear development|
|ear development|
|heart morphogenesis|
|regulation of animal organ morphogenesis|
|regulation of canonical Wnt signaling pathway|
|epithelial tube morphogenesis|
|multicellular organismal homeostasis|
|anatomical structure homeostasis|
|cilium assembly|
|regulation of Wnt signaling pathway|
|cilium organization|
|morphogenesis of an epithelium|
|embryonic organ development|
|pattern specification process|
|plasma membrane bounded cell projection assembly|
|cell projection assembly|
|centrosome|
|skeletal system development|
|heart development|
|sensory organ development|
|tissue morphogenesis|
|embryonic morphogenesis|
|organelle localization|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|tube morphogenesis|
|neuron projection development|
|organelle assembly|
|head development|
|neuron development|
|tube development|
|circulatory system development|
|anatomical structure formation involved in morphogenesis|
|regulation of nervous system development|
|animal organ morphogenesis|
|embryo development|
|neuron differentiation|
|regulation of anatomical structure morphogenesis|
|epithelium development|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|generation of neurons|
|regulation of cell population proliferation|
|neurogenesis|
|homeostatic process|
|cell development|
|tissue development|
|membrane|
</modal>
\\

 === CRISPR Data ===
<button type='default' 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'>
No hits were found.
</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>**: 8784
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.09 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='MKS1 Expression in NALM6 Cells: 4.09'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>