RFX3 and SLC1A3

		RFX3	SLC1A3
Description		regulatory factor X3	solute carrier family 1 member 3
Image		No pdb structure
GO Annotations	Cellular Component	Chromatin Extracellular Region Nucleus Transcription Regulator Complex	Plasma Membrane Basal Plasma Membrane Cell Surface Membrane Cytoplasmic Vesicle Cell Projection Neuron Projection Neuronal Cell Body Synapse Perinuclear Region Of Cytoplasm Cell Periphery Membrane Protein Complex
	Molecular Function	Transcription Cis-regulatory Region Binding RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding DNA-binding Transcription Factor Activity, RNA Polymerase II-specific DNA Binding DNA-binding Transcription Factor Activity Protein Binding Sequence-specific DNA Binding Sequence-specific Double-stranded DNA Binding	L-glutamate Transmembrane Transporter Activity High-affinity L-glutamate Transmembrane Transporter Activity Protein Binding Acidic Amino Acid Transmembrane Transporter Activity Neutral L-amino Acid Transmembrane Transporter Activity Symporter Activity Glutamate:sodium Symporter Activity Glutamate Binding Amino Acid Binding Metal Ion Binding
	Biological Process	DNA-templated Transcription Regulation Of DNA-templated Transcription Regulation Of Transcription By RNA Polymerase II Determination Of Left/right Symmetry Cell Differentiation Endocrine Pancreas Development Negative Regulation Of DNA-templated Transcription Positive Regulation Of DNA-templated Transcription Positive Regulation Of Transcription By RNA Polymerase II Cell Maturation Regulation Of Insulin Secretion Cilium Assembly Cilium-dependent Cell Motility Epithelial Cilium Movement Involved In Determination Of Left/right Asymmetry Type B Pancreatic Cell Maturation Positive Regulation Of Type B Pancreatic Cell Development	Neurotransmitter Uptake Monoatomic Ion Transport Neurotransmitter Transport Amino Acid Transport Intracellular Sodium Ion Homeostasis Chemical Synaptic Transmission Sensory Perception Of Sound Response To Xenobiotic Stimulus Response To Light Stimulus Gamma-aminobutyric Acid Biosynthetic Process Response To Wounding Neutral Amino Acid Transport L-glutamate Transmembrane Transport Cranial Nerve Development Auditory Behavior Response To Antibiotic Cell Morphogenesis Involved In Neuron Differentiation Positive Regulation Of Synaptic Transmission Neuromuscular Process Controlling Balance L-glutamate Import Transepithelial Transport D-aspartate Import Across Plasma Membrane Cellular Response To Cocaine Potassium Ion Transmembrane Transport Import Into Cell L-glutamate Import Across Plasma Membrane L-aspartate Import Across Plasma Membrane Transport Across Blood-brain Barrier Chloride Transmembrane Transport
Pathways			Astrocytic Glutamate-Glutamine Uptake And Metabolism Glutamate Neurotransmitter Release Cycle Defective SLC1A3 causes episodic ataxia 6 (EA6) SLC-mediated transport of amino acids
Drugs			Glutamic acid
Diseases			Episodic ataxias
GWAS		Bisphosphonate-associated atypical femoral fracture ( 31006051) Body mass index ( 28552196) Gout ( 25967671) Insomnia ( 29520036) Major depressive disorder ( 27479909) Monobrow thickness ( 26926045) Smoking status (ever vs never smokers) ( 30643258) Systolic blood pressure in sickle cell anemia ( 24058526) Weight ( 28552196)	Depression in smokers ( 30219690) Heel bone mineral density ( 28869591 30598549) Intraocular pressure ( 29617998) Liver enzyme levels (alkaline phosphatase) ( 33972514) Lumbar spine bone mineral density (integral) ( 27476799) Lumbar spine bone mineral density (trabecular) ( 27476799) Malaria ( 31844061) Serum alkaline phosphatase levels ( 33547301)
Interacting Genes		13 interacting genes: BIN1 CREB1 EWSR1 FHL2 FHL3 IRF6 MEOX2 PKNOX1 RFX1 RFX4 RFX6 TRAF2 TRIP6	6 interacting genes: BTN2A2 MGST3 SGK1 TMEM120B TMEM128 ZDHHC17
Entrez ID		5991	6507
HPRD ID		03215	02523
Ensembl ID		ENSG00000080298	ENSG00000079215
Uniprot IDs		P48380	A0A087WT87 A0A087X0U3 B4DF14 P43003 Q7Z5T0 Q8N169
PDB IDs			5LLM 5LLU 5LM4 5MJU 7NPW
Enriched GO Terms of Interacting Partners?		Regulation Of DNA-templated Transcription Regulation Of RNA Biosynthetic Process DNA-binding Transcription Factor Activity Regulation Of RNA Metabolic Process Chromatin Regulation Of Transcription By RNA Polymerase II Regulation Of Nucleobase-containing Compound Metabolic Process Sequence-specific Double-stranded DNA Binding Ventricular Cardiac Muscle Cell Development RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding DNA-binding Transcription Activator Activity, RNA Polymerase II-specific DNA-binding Transcription Factor Activity, RNA Polymerase II-specific Regulation Of Gene Expression Nucleobase-containing Compound Biosynthetic Process Regulation Of Macromolecule Biosynthetic Process Regulation Of Primary Metabolic Process Z Disc Lipid Tube Negative Regulation Of Ventricular Cardiac Muscle Cell Action Potential Pronuclear Fusion Epithelial Cell Differentiation Cardiac Muscle Cell Development Positive Regulation Of Nucleobase-containing Compound Metabolic Process Cardiac Cell Development DNA Binding Response To Cocaine Chemotaxis To Arachidonate TORC2 Complex Disassembly N-acetylneuraminate Synthase Activity N-acylneuraminate-9-phosphate Synthase Activity Pancreatic Epsilon Cell Differentiation Regulation Of Macromolecule Metabolic Process Hsp70 Protein Binding Nucleus Lipid Tube Assembly Negative Regulation Of Cardiac Muscle Cell Contraction Mitotic DNA-templated DNA Replication Cyclin B1-CDK1 Complex Cyclin A1-CDK1 Complex Cyclin A2-CDK1 Complex Positive Regulation Of Cardiac Muscle Tissue Development Sequence-specific DNA Binding Positive Regulation Of Transforming Growth Factor Beta3 Production Positive Regulation Of Transcription By RNA Polymerase II Atrial Cardiac Muscle Cell Development Limb Development TRAF2-GSTP1 Complex TORC1 Complex Assembly CD40 Receptor Binding Nucleoside Triphosphate Adenylate Kinase Activity
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