MKS1

Gene Information

Official Symbol: MKS1
Official Name: MKS transition zone complex subunit 1
Aliases and Previous Symbols: N/A
Entrez ID: 54903
UniProt: Q9NXB0
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez Summary: 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].
UniProt Summary: 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}.

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics 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

Essentiality in NALM6

Essentiality Rank: 8784
Expression level (log2 read counts): 4.09

Expression Distribution

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