MKS1 and SMG8

		MKS1	SMG8
Description		MKS transition zone complex subunit 1	SMG8 nonsense mediated mRNA decay factor
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	Cytosol
	Molecular Function	Protein Binding	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	Nuclear-transcribed MRNA Catabolic Process, Nonsense-mediated Decay Regulation Of Protein Kinase Activity
Pathways		Hedgehog 'off' state Anchoring of the basal body to the plasma membrane	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
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)
Interacting Genes		3 interacting genes: DDX24 RNF34 TMEM67	2 interacting genes: RNF10 SMG1
Entrez ID		54903	55181
HPRD ID		07900	08551
Ensembl ID		ENSG00000011143	ENSG00000167447
Uniprot IDs		A0A7I2V2M0 B4DVC5 H0Y2S2 J3KSC6 Q9NXB0	Q8ND04
PDB IDs			6L54 6SYT 6Z3R 7PW4 7PW5 7PW8
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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