TMEM67 and CIBAR1

		TMEM67	CIBAR1
Description		transmembrane protein 67	CBY1 interacting BAR domain containing 1
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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	Nucleus Cytoplasm Mitochondrion Mitochondrial Inner Membrane Centriole Microtubule Organizing Center Cytoskeleton Cilium Membrane Mitochondrial Crista Motile Cilium Ciliary Transition Zone Ciliary Basal Body Cell Projection Sperm Annulus Ciliary Base
	Molecular Function	Protein Binding Filamin Binding Unfolded Protein Binding	Protein Binding Phospholipid Binding
	Biological Process	Negative Regulation Of Centrosome Duplication Cell Projection Organization Non-canonical Wnt Signaling Pathway ERAD Pathway Cilium Assembly	Inner Mitochondrial Membrane Organization Spermatogenesis Cell Projection Organization Cell Differentiation Limb Morphogenesis Positive Regulation Of Smoothened Signaling Pathway Cilium Assembly Membrane Organization Membrane Tubulation
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
Interacting Genes		2 interacting genes: MKS1 UBQLN1	4 interacting genes: APPBP2 CBY1 CBY2 SHANK3
Entrez ID		91147	137392
HPRD ID		11324	14061
Ensembl ID		ENSG00000164953	ENSG00000188343
Uniprot IDs		C9JHI2 Q5HYA8	A1XBS5
PDB IDs		7FH1	8CEG
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	Ciliary Membrane Cytoplasmic Vesicle Membrane Wnt Signaling Pathway Cilium Organization Plasma Membrane Bounded Cell Projection Organization Cilium Assembly Cell Projection Floor Plate Development Cell Projection Organization Organelle Assembly Guanylate Kinase-associated Protein Clustering Vocal Learning Negative Regulation Of Cytoskeleton Organization Negative Regulation Of Cell Volume Positive Regulation Of Glutamate Receptor Signaling Pathway Neuron Spine Postsynaptic Density Assembly Positive Regulation Of Long-term Neuronal Synaptic Plasticity AMPA Glutamate Receptor Clustering Synaptic Receptor Adaptor Activity Regulation Of Synapse Structural Plasticity Positive Regulation Of Synapse Structural Plasticity NMDA Glutamate Receptor Clustering GABAergic Neuron Differentiation Neurotransmitter-gated Ion Channel Clustering Regulation Of Glutamate Receptor Signaling Pathway Observational Learning Striatal Medium Spiny Neuron Differentiation Postsynaptic Specialization Assembly Negative Regulation Of Centrosome Duplication MKS Complex Filamin Binding Plasma Membrane Bounded Cell Projection Assembly Auditory Behavior Cell Projection Assembly Regulation Of Long-term Synaptic Depression Mechanosensory Behavior Cul2-RING Ubiquitin Ligase Complex Dendritic Spine Morphogenesis Cytoskeleton Postsynaptic Density Organization Brain Morphogenesis Vocalization Behavior Positive Regulation Of Long-term Synaptic Potentiation Proteasomal Protein Catabolic Process Postsynaptic Specialization Organization Regulation Of Long-term Neuronal Synaptic Plasticity Intracellular Protein Localization Positive Regulation Of Excitatory Postsynaptic Potential Regulation Of Cytoskeleton Organization
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