MKS1 and RNF43

		MKS1	RNF43
Description		MKS transition zone complex subunit 1	ring finger protein 43
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	Nucleus Nuclear Envelope Endoplasmic Reticulum Endoplasmic Reticulum Membrane Plasma Membrane Membrane
	Molecular Function	Protein Binding	Ubiquitin-protein Transferase Activity Frizzled Binding Protein Binding Zinc Ion Binding Transferase Activity Metal Ion Binding Ubiquitin Protein Ligase Activity
	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	Ubiquitin-dependent Protein Catabolic Process Wnt Signaling Pathway Protein Ubiquitination Negative Regulation Of Wnt Signaling Pathway Wnt Receptor Catabolic Process Stem Cell Proliferation
Pathways		Hedgehog 'off' state Anchoring of the basal body to the plasma membrane	Regulation of FZD by ubiquitination Signaling by RNF43 mutants
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)	Circulating myeloperoxidase levels (plasma) ( 23620142) Cognitive function ( 25644384) Hemoglobin levels ( 32327693) Iron status biomarkers (ferritin levels) ( 33536631) Mean corpuscular hemoglobin ( 27863252 32888494) Mean corpuscular volume ( 27863252 32888494) Pancreatic cancer ( 20686608) Prostate cancer ( 29892016) Refractive error ( 32231278) Vitamin D levels ( 25208829)
Interacting Genes		3 interacting genes: DDX24 RNF34 TMEM67	9 interacting genes: EPOR UBE2D1 UBE2D2 UBE2D3 UBE2D4 UBE2E1 UBE2E3 UBE2N ZNRF3
Entrez ID		54903	54894
HPRD ID		07900	07896
Ensembl ID		ENSG00000011143	ENSG00000108375
Uniprot IDs		A0A7I2V2M0 B4DVC5 H0Y2S2 J3KSC6 Q9NXB0	J3KSE3 Q68DV7
PDB IDs			4KNG 8WVU
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	Ubiquitin Conjugating Enzyme Activity Ubiquitin-protein Transferase Activity Protein K48-linked Ubiquitination Protein Polyubiquitination Ubiquitin-dependent Protein Catabolic Process Modification-dependent Protein Catabolic Process Protein Ubiquitination Proteolysis Involved In Protein Catabolic Process Protein Modification By Small Protein Conjugation Post-translational Protein Modification Macromolecule Catabolic Process Proteolysis Protein Monoubiquitination Protein Modification Process Transferase Activity Catabolic Process Protein Metabolic Process Protein K11-linked Ubiquitination ATP Binding Nucleotide Binding Protein K63-linked Ubiquitination Regulation Of Wnt Signaling Pathway, Planar Cell Polarity Pathway Ubiquitin Protein Ligase Activity Positive Regulation Of Protein Polyubiquitination Proteasome-mediated Ubiquitin-dependent Protein Catabolic Process Macromolecule Metabolic Process Regulation Of Non-canonical Wnt Signaling Pathway Protein K6-linked Ubiquitination Proteasomal Protein Catabolic Process Regulation Of Protein Polyubiquitination Protein Catabolic Process Erythropoietin Receptor Activity Smoothened Signaling Pathway Involved In Regulation Of Secondary Heart Field Cardioblast Proliferation TORC1 Signaling Negative Regulation Of TORC1 Signaling Negative Regulation Of BMP Signaling Pathway Protein Autoubiquitination TOR Signaling Wnt Receptor Catabolic Process Negative Regulation Of TOR Signaling Regulation Of TORC1 Signaling Positive Regulation Of Protein Ubiquitination Ubiquitin Ligase Complex UBC13-MMS2 Complex Regulation Of BMP Signaling Pathway Nucleoplasm Negative Regulation Of Cellular Response To Growth Factor Stimulus ISG15 Transferase Activity Ubiquitin Conjugating Enzyme Complex Positive Regulation Of Post-translational Protein Modification
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