MKS1

Description		MKS transition zone complex subunit 1
Image		No pdb structure
GO Annotations	Cellular Component	Nucleoplasm Nucleolus Cytoplasm Centrosome Centriole Cytosol Cytoskeleton Cilium Membrane Ciliary Transition Zone MKS Complex Ciliary Basal Body Cell Projection
	Molecular Function	Protein Binding
	Biological Process	Neural Tube Closure Smoothened Signaling Pathway Involved In Regulation Of Secondary Heart Field Cardioblast Proliferation Determination Of Left/right Symmetry Regulation Of Smoothened Signaling Pathway Epithelial Structure Maintenance Cell Projection Organization Embryonic Digit Morphogenesis Motile Cilium Assembly Embryonic Skeletal System Development Branching Morphogenesis Of An Epithelial Tube Inner Ear Receptor Cell Stereocilium Organization Cilium Assembly Head Development Cardiac Septum Morphogenesis Regulation Of Canonical Wnt Signaling Pathway Common Bile Duct Development Non-motile Cilium Assembly Embryonic Brain Development Regulation Of Wnt Signaling Pathway, Planar Cell Polarity Pathway
Pathways		Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
Drugs
Diseases		Meckel syndrome (MKS); Meckel-Gruber syndrome Bardet-Biedl syndrome (BBS)
GWAS		Eosinophil count ( 32888494) Eosinophil percentage of white cells ( 32888494) Post bronchodilator FEV1 in COPD ( 26634245) Post bronchodilator FEV1/FVC ratio in COPD ( 26634245)
Novel Interacting Genes		5 novel interacting genes: ABCC3 CACNA1G DGKE RNF43 SMG8
Interacting Genes		3 interacting genes: DDX24 RNF34 TMEM67
Entrez ID		54903
HPRD ID		07900
Ensembl ID		ENSG00000011143
Uniprot IDs		A0A7I2V2M0 B4DVC5 H0Y2S2 J3KSC6 Q9NXB0
PDB IDs
Enriched GO Terms of Interacting Partners?		Icosanoid Transmembrane Transporter Activity Glucuronoside Transmembrane Transporter Activity Glucuronoside Transport AV Node Cell To Bundle Of His Cell Signaling Response To Nickel Cation Low Voltage-gated Calcium Channel Activity Voltage-gated Calcium Channel Activity Involved SA Node Cell Action Potential SA Node Cell To Atrial Cardiac Muscle Cell Signaling Macromolecule Catabolic Process Wnt Receptor Catabolic Process Regulation Of Oxygen Metabolic Process Voltage-gated Calcium Channel Activity Involved In AV Node Cell Action Potential ABC-type Bile Acid Transporter Activity SA Node Cell To Atrial Cardiac Muscle Cell Communication AV Node Cell Action Potential Membrane Depolarization During AV Node Cell Action Potential Membrane Depolarization During SA Node Cell Action Potential SA Node Cell Action Potential
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