CNGA1 and BBS7

		CNGA1	BBS7
Description		cyclic nucleotide gated channel subunit alpha 1	Bardet-Biedl syndrome 7
Image			No pdb structure
GO Annotations	Cellular Component	Photoreceptor Outer Segment Plasma Membrane Membrane Intracellular Cyclic Nucleotide Activated Cation Channel Complex Photoreceptor Outer Segment Membrane Rod Photoreceptor Outer Segment	Photoreceptor Outer Segment Nucleus Cytoplasm Centrosome Cytosol Cytoskeleton Plasma Membrane Cilium Axoneme Membrane Centriolar Satellite BBSome Ciliary Basal Body Cell Projection Neuron Projection Ciliary Membrane
	Molecular Function	Nucleotide Binding Monoatomic Ion Channel Activity Intracellularly Cyclic Nucleotide-activated Monoatomic Cation Channel Activity Intracellularly CAMP-activated Cation Channel Activity Intracellularly CGMP-activated Cation Channel Activity Calcium Channel Activity Sodium Channel Activity Protein Binding CAMP Binding CGMP Binding	Protein Binding RNA Polymerase II-specific DNA-binding Transcription Factor Binding
	Biological Process	Monoatomic Ion Transport Sodium Ion Transport Calcium Ion Transport Visual Perception Sensory Perception Of Chemical Stimulus Monoatomic Ion Transmembrane Transport Sodium Ion Transmembrane Transport Transmembrane Transport Calcium Ion Transmembrane Transport Monoatomic Cation Transmembrane Transport	Eye Development Heart Looping Regulation Of Transcription By RNA Polymerase II Smoothened Signaling Pathway Determination Of Left/right Symmetry Brain Development Heart Development Visual Perception Intracellular Protein Localization Protein Transport Cell Projection Organization Melanosome Transport Positive Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Fat Cell Differentiation Intracellular Transport Digestive Tract Morphogenesis Pigment Granule Aggregation In Cell Center Limb Development Cilium Assembly Primary Palate Development Non-motile Cilium Assembly
Pathways		Activation of the phototransduction cascade Inactivation, recovery and regulation of the phototransduction cascade	BBSome-mediated cargo-targeting to cilium
Drugs		Dequalinium
Diseases		Retinitis pigmentosa (RP)	Bardet-Biedl syndrome (BBS)
GWAS		Spondylosis ( 33332786)	Asthma ( 31959851) Hip circumference adjusted for BMI ( 34021172) Psoriasis ( 31376382)
Interacting Genes		1 interacting genes: SLC24A1	4 interacting genes: FHOD1 JUN KRT18 PAX2
Entrez ID		1259	55212
HPRD ID		00445	07399
Ensembl ID		ENSG00000198515	ENSG00000138686
Uniprot IDs		P29973	Q8IWZ6
PDB IDs		7LFT 7LFW 7LFX 7LFY 7LG1 7RH9 7RHG 7RHH 7RHI 7RHJ 7RHK 7RHL
Enriched GO Terms of Interacting Partners?		Outer Membrane Visual Perception Sensory Perception Of Light Stimulus Calcium, Potassium:sodium Antiporter Activity Pigment Granule Aggregation In Cell Center Primary Palate Development Sensory Perception BBSome Calcium Ion Import Across Plasma Membrane Response To Light Intensity Calcium Ion Import Into Cytosol Long-term Synaptic Depression Nervous System Process Pigment Granule Localization Establishment Of Melanosome Localization Digestive Tract Morphogenesis Melanosome Localization Melanosome Transport Pigment Granule Transport Calcium Ion Import Negative Regulation Of Synaptic Transmission Long-term Synaptic Potentiation Non-motile Cilium Assembly Ciliary Membrane Limb Development System Process Heart Looping Embryonic Heart Tube Morphogenesis Photoreceptor Outer Segment Calcium Ion Transmembrane Import Into Cytosol Calcium Channel Activity Antiporter Activity Symporter Activity Inorganic Cation Import Across Plasma Membrane Smoothened Signaling Pathway Positive Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Determination Of Bilateral Symmetry Roof Of Mouth Development Determination Of Left/right Symmetry	Establishment Of Centrosome Localization Negative Regulation Of Programmed Cell Death Endothelial Microparticle Signal Transduction Negative Regulation Of Apoptotic Process Meiotic Mismatch Repair Single Thymine Insertion Binding MutSalpha Complex Response To Light Stimulus Leading Edge Cell Differentiation Mitotic Spindle Assembly Checkpoint MAD1-MAD2 Complex Centrosome Localization Negative Regulation Of Mesenchymal Cell Apoptotic Process Involved In Metanephric Nephron Morphogenesis Pronephric Field Specification Negative Regulation Of Apoptotic Process Involved In Metanephric Nephron Tubule Development Optic Chiasma Development Positive Regulation Of Optic Nerve Formation Regulation Of Metanephros Size Optic Nerve Structural Organization Negative Regulation Of Apoptotic Process Involved In Metanephric Collecting Duct Development Positive Regulation Of Metanephric DCT Cell Differentiation Optic Cup Morphogenesis Involved In Camera-type Eye Development Calcium Channel Activity Regulation Of Programmed Cell Death Regulation Of Apoptotic Process Guanine/thymine Mispair Binding Single Guanine Insertion Binding Response To Anisomycin Cellular Response To Anisomycin Microtubule Organizing Center Mitotic Checkpoint Complex Vestibulocochlear Nerve Formation Negative Regulation Of Mesenchymal Cell Apoptotic Process Involved In Nephron Morphogenesis Metanephric Nephron Tubule Formation Metanephric Distal Convoluted Tubule Development Nephric Duct Formation Positive Regulation Of Metanephric Glomerulus Development Negative Regulation Of Mesenchymal Cell Apoptotic Process Involved In Metanephros Development Ureter Maturation Positive Regulation Of Mesenchymal To Epithelial Transition Involved In Metanephros Morphogenesis Operant Conditioning Intracellular Cyclic Nucleotide Activated Cation Channel Complex Intracellularly Cyclic Nucleotide-activated Monoatomic Cation Channel Activity Intracellularly CGMP-activated Cation Channel Activity Double-stranded DNA Binding Response To Radiation Release From Viral Latency Transcription Factor AP-1 Complex Response To Calcium Ion Centriolar Satellite
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