CACNA1G and MKS1

Data Source: HiPPIP (Novel)

		CACNA1G	MKS1
Name		calcium voltage-gated channel subunit alpha1 G	MKS transition zone complex subunit 1
Structure			No pdb structure
GO Annotations	Cellular Component	Cytoplasm Plasma Membrane Voltage-gated Calcium Channel Complex Membrane Monoatomic Ion Channel Complex Synapse	Nucleoplasm Nucleolus Cytoplasm Centrosome Centriole Cytosol Cytoskeleton Cilium Membrane Ciliary Transition Zone MKS Complex Ciliary Basal Body Cell Projection
	Molecular Function	Monoatomic Ion Channel Activity Voltage-gated Calcium Channel Activity Calcium Channel Activity High Voltage-gated Calcium Channel Activity Low Voltage-gated Calcium Channel Activity Voltage-gated Calcium Channel Activity Involved In AV Node Cell Action Potential Voltage-gated Calcium Channel Activity Involved SA Node Cell Action Potential Scaffold Protein Binding	Protein Binding
	Biological Process	Action Potential Regulation Of Heart Rate Sinoatrial Node Development Monoatomic Ion Transport Calcium Ion Transport Chemical Synaptic Transmission Response To Nickel Cation Monoatomic Ion Transmembrane Transport Regulation Of Membrane Potential Transmembrane Transport Regulation Of Atrial Cardiac Muscle Cell Membrane Depolarization Regulation Of Biological Quality Calcium Ion Import Calcium Ion Transmembrane Transport Cardiac Muscle Cell Action Potential Involved In Contraction SA Node Cell Action Potential AV Node Cell Action Potential SA Node Cell To Atrial Cardiac Muscle Cell Signaling AV Node Cell To Bundle Of His Cell Signaling Membrane Depolarization During AV Node Cell Action Potential Membrane Depolarization During SA Node Cell Action Potential Regulation Of Heart Rate By Cardiac Conduction Calcium Ion Import Across Plasma Membrane	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		NCAM1 interactions Smooth Muscle Contraction	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
Drugs		Ergocalciferol Enflurane Trimethadione Spironolactone Cinnarizine Ethosuximide Nicardipine Nicardipine Verapamil Verapamil Zonisamide Nifedipine Mibefradil Flunarizine Methsuximide Nilvadipine Cannabidiol Trimebutine Barnidipine Benidipine Efonidipine Efonidipine Efonidipine Manidipine Manidipine Butamben Bioallethrin Bioallethrin Medical Cannabis Nabiximols	None
Diseases		None	Meckel syndrome (MKS); Meckel-Gruber syndrome Bardet-Biedl syndrome (BBS)
GWAS		Adventurousness ( 30643258 ) Alzheimer's disease (cognitive decline) ( 23535033 ) Electrocardiogram morphology (amplitude at temporal datapoints) ( 32916098 ) PR interval ( 32439900 ) Total cholesterol levels ( 30498476 )	Eosinophil count ( 32888494 ) Eosinophil percentage of white cells ( 32888494 ) Post bronchodilator FEV1 in COPD ( 26634245 ) Post bronchodilator FEV1/FVC ratio in COPD ( 26634245 )
Novel Interactors		1 novel interactors: MKS1	5 novel interactors: ABCC3 CACNA1G DGKE RNF43 SMG8
Interacting Genes		2 interacting genes: RANBP9 UBQLN4	3 interacting genes: DDX24 RNF34 TMEM67
Entrez ID		8913	54903
HPRD ID		04961	07900
Ensembl ID		ENSG00000006283	ENSG00000011143
Uniprot IDs		O43497	A0A7I2V2M0 B4DVC5 H0Y2S2 J3KSC6 Q9NXB0
PDB IDs		6KZO 6KZP	Not available
GO Terms Enriched among Interactors		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 Negative Regulation Of Autophagosome Maturation Nuclear Proteasome Complex Cytosolic Proteasome Complex K48-linked Polyubiquitin Modification-dependent Protein Binding	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