TMEM67

Description		transmembrane protein 67
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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
	Molecular Function	Protein Binding Filamin Binding Unfolded Protein Binding
	Biological Process	Negative Regulation Of Centrosome Duplication Cell Projection Organization Non-canonical Wnt Signaling Pathway ERAD Pathway Cilium Assembly
Pathways		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
GWAS
Novel Interacting Genes		4 novel interacting genes: CIBAR1 INTS8 LAPTM4B NDUFAF6
Interacting Genes		2 interacting genes: MKS1 UBQLN1
Entrez ID		91147
HPRD ID		11324
Ensembl ID		ENSG00000164953
Uniprot IDs		C9JHI2 Q5HYA8
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
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