TMEM67 and MKS1

Number of citations of the paper that reports this interaction (PubMedID 17185389)
0

Data Source:
HPRD (in vivo)

		TMEM67	MKS1
Description		transmembrane protein 67	MKS transition zone complex subunit 1
Image			No pdb structure
GO Annotations	Cellular Component	Cytoplasm Endoplasmic Reticulum Endoplasmic Reticulum Membrane Centrosome Cytoskeleton Plasma Membrane Cilium Membrane Cytoplasmic Vesicle Membrane Ciliary Transition Zone MKS Complex Cell Projection Ciliary Membrane	Nucleoplasm Nucleolus Cytoplasm Centrosome Centriole Cytosol Cytoskeleton Cilium Membrane Ciliary Transition Zone MKS Complex Ciliary Basal Body Cell Projection
	Molecular Function	Protein Binding Filamin Binding Unfolded Protein Binding	Protein Binding
	Biological Process	Negative Regulation Of Centrosome Duplication Cell Projection Organization Non-canonical Wnt Signaling Pathway ERAD Pathway Cilium Assembly	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		Anchoring of the basal body to the plasma membrane	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
Drugs
Diseases		Joubert syndrome Meckel syndrome (MKS); Meckel-Gruber syndrome Nephronophthisis-medullary cystic kidney disease, including; Nephronophthisis (NPH) ; Nephronophthisis-like nephropathy 1; Medullary cystic kidney disease 1; Medullary cystic kidney disease 2 (MSKD2) COACH syndrome	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		2 interacting genes: MKS1 UBQLN1	3 interacting genes: DDX24 RNF34 TMEM67
Entrez ID		91147	54903
HPRD ID		11324	07900
Ensembl ID		ENSG00000164953	ENSG00000011143
Uniprot IDs		C9JHI2 Q5HYA8	A0A7I2V2M0 B4DVC5 H0Y2S2 J3KSC6 Q9NXB0
PDB IDs		7FH1
Enriched GO Terms of Interacting Partners?		Ciliary Transition Zone Negative Regulation Of Store-operated Calcium Channel Activity Regulation Of Smoothened Signaling Pathway Smoothened Signaling Pathway Involved In Regulation Of Secondary Heart Field Cardioblast Proliferation Kinase Binding Regulation Of Lysosomal Membrane Permeability Negative Regulation Of Toll-like Receptor 3 Signaling Pathway Organelle Assembly Common Bile Duct Development Cell Surface Receptor Signaling Pathway Involved In Heart Development Centriole Negative Regulation Of Lysosomal Protein Catabolic Process Multivesicular Body, Internal Vesicle Negative Regulation Of Transforming Growth Factor Beta1 Production Membrane Tubulation Aggrephagy Regulation Of Toll-like Receptor 3 Signaling Pathway Cellular Component Assembly MKS Complex Cilium Organization Ciliary Basal Body Cilium Assembly Regulation Of Wnt Signaling Pathway, Planar Cell Polarity Pathway Ceramide Binding Regulation Of Lysosome Organization Lysosomal Membrane Organization Phosphatidylinositol Bisphosphate Binding Regulation Of Lysosomal Protein Catabolic Process Negative Regulation Of Transforming Growth Factor Beta Production Sperm Annulus Mitochondrial Crista	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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