MKS1 and ABCC3

		MKS1	ABCC3
Description		MKS transition zone complex subunit 1	ATP binding cassette subfamily C member 3
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	Plasma Membrane Basal Plasma Membrane Membrane Basolateral Plasma Membrane Ciliary Basal Body
	Molecular Function	Protein Binding	Nucleotide Binding ATP Binding ABC-type Xenobiotic Transporter Activity Glucuronoside Transmembrane Transporter Activity ABC-type Glutathione S-conjugate Transporter Activity ABC-type Bile Acid Transporter Activity ATP Hydrolysis Activity Transmembrane Transporter Activity ATPase-coupled Transmembrane Transporter Activity Xenobiotic Transmembrane Transporter Activity ATPase-coupled Inorganic Anion Transmembrane Transporter Activity Icosanoid Transmembrane Transporter Activity ABC-type Transporter 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	Xenobiotic Metabolic Process Xenobiotic Transmembrane Transport Lipid Transport Bile Acid And Bile Salt Transport Glucuronoside Transport Xenobiotic Transport Carboxylic Acid Transport Transmembrane Transport Leukotriene Transport Monoatomic Anion Transmembrane Transport Transport Across Blood-brain Barrier
Pathways		Hedgehog 'off' state Anchoring of the basal body to the plasma membrane	Recycling of bile acids and salts ABC-family proteins mediated transport Aspirin ADME Paracetamol ADME NFE2L2 regulating MDR associated enzymes
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: MLH1 MTDH
Entrez ID		54903	8714
HPRD ID		07900	06826
Ensembl ID		ENSG00000011143	ENSG00000108846
Uniprot IDs		A0A7I2V2M0 B4DVC5 H0Y2S2 J3KSC6 Q9NXB0	O15438 Q86VN9
PDB IDs			8HVH 8HW2 8HW4 8IZP
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	Meiotic Spindle Midzone Assembly Meiotic Metaphase Chromosome Alignment Guanine/thymine Mispair Binding Male Meiosis Chromosome Segregation Homologous Chromosome Segregation MutLalpha Complex Female Meiosis Chromosome Segregation Chiasma Late Recombination Nodule Mismatch Repair Complex Meiotic Metaphase I Homologous Chromosome Alignment Negative Regulation Of Mitotic Recombination Common Bile Duct Development Cell Surface Receptor Signaling Pathway Involved In Heart Development Smoothened Signaling Pathway Involved In Regulation Of Secondary Heart Field Cardioblast Proliferation Detection Of Nodal Flow Positive Regulation Of Isotype Switching To IgA Isotypes Intercellular Canaliculus MutSalpha Complex Binding Regulation Of Mitotic Recombination Meiotic Telomere Clustering Chromosome Localization To Nuclear Envelope Involved In Homologous Chromosome Segregation Telomere Localization Mismatched DNA Binding Positive Regulation Of Isotype Switching To IgG Isotypes Somatic Hypermutation Of Immunoglobulin Genes Meiotic Chromosome Segregation Spindle Midzone Assembly Somatic Diversification Of Immune Receptors Via Somatic Mutation MKS Complex Regulation Of Wnt Signaling Pathway, Planar Cell Polarity Pathway Left/right Axis Specification Regulation Of Isotype Switching To IgG Isotypes
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