BBS5 and SLC6A15

		BBS5	SLC6A15
Description		Bardet-Biedl syndrome 5	solute carrier family 6 member 15
Image			No pdb structure
GO Annotations	Cellular Component	Cytoplasm Cytosol Cytoskeleton Plasma Membrane Cilium Axoneme Membrane Centriolar Satellite BBSome Ciliary Basal Body Cell Projection Ciliary Membrane	Plasma Membrane Membrane
	Molecular Function	Protein Binding Phosphatidylinositol-3-phosphate Binding RNA Polymerase II-specific DNA-binding Transcription Factor Binding	Neutral L-amino Acid:sodium Symporter Activity Proline:sodium Symporter Activity Neurotransmitter Transmembrane Transporter Activity Protein Binding Amino Acid Transmembrane Transporter Activity Symporter Activity Branched-chain Amino Acid:sodium Symporter Activity Transmembrane Transporter Activity
	Biological Process	Heart Looping Visual Perception Protein Transport Cell Projection Organization Melanosome Transport Motile Cilium Assembly Intracellular Transport Cilium Assembly	Amino Acid Transmembrane Transport Monoatomic Ion Transport Sodium Ion Transport Neurotransmitter Transport Amino Acid Transport Neutral Amino Acid Transport L-leucine Transport Proline Transport Sodium Ion Transmembrane Transport Carboxylic Acid Transmembrane Transport
Pathways		BBSome-mediated cargo-targeting to cilium	Amino acid transport across the plasma membrane SLC-mediated transport of neurotransmitters
Drugs
Diseases		Bardet-Biedl syndrome (BBS)
GWAS		Iris heterochromicity ( 30895295)	Atopic march ( 26542096) Behavioural disinhibition (generation interaction) ( 23942779) Cognitive decline rate in late mild cognitive impairment ( 26252872) Glaucoma (primary open-angle) ( 29891935 33627673) Major depressive disorder ( 27479909) Metabolite levels ( 23823483) PR interval ( 32439900) Vertical cup-disc ratio (multi-trait analysis) ( 31959993)
Interacting Genes		4 interacting genes: CRADD KLC3 TOM1 TOM1L2	2 interacting genes: LNX1 SNCA
Entrez ID		129880	55117
HPRD ID		10353	12141
Ensembl ID		ENSG00000163093	ENSG00000072041
Uniprot IDs		A0A0S2Z626 Q8N3I7	A0A7P0T8I1 Q8IXG2 Q9H2J7 Q9NW50
PDB IDs		6XTB
Enriched GO Terms of Interacting Partners?			Response To Desipramine Negative Regulation Of Norepinephrine Uptake Phospholipase D Inhibitor Activity Positive Regulation Of SNARE Complex Assembly Negative Regulation Of Dopamine Uptake Involved In Synaptic Transmission Vesicle Localization Establishment Of Vesicle Localization Regulation Of Norepinephrine Uptake Negative Regulation Of Mitochondrial Electron Transport, NADH To Ubiquinone Positive Regulation Of Hydrogen Peroxide Catabolic Process Negative Regulation Of Dopamine Metabolic Process Negative Regulation Of Serotonin Uptake Postsynapse Transporter Regulator Activity Establishment Of Organelle Localization Negative Regulation Of Chaperone-mediated Autophagy Regulation Of Serotonin Uptake Synapse Organization Negative Regulation Of Thrombin-activated Receptor Signaling Pathway Negative Regulation Of Catecholamine Metabolic Process Dopamine Uptake Involved In Synaptic Transmission Response To Iron(II) Ion BBSome Regulation Of Chaperone-mediated Autophagy Regulation Of Dopamine Uptake Involved In Synaptic Transmission Negative Regulation Of Oxidative Phosphorylation Mitochondrial ATP Synthesis Coupled Electron Transport Cuprous Ion Binding Dopamine Biosynthetic Process Negative Regulation Of Cellular Respiration Regulation Of Acyl-CoA Biosynthetic Process Supramolecular Fiber Catecholamine Uptake Dopamine Uptake Positive Regulation Of Inositol Phosphate Biosynthetic Process SNARE Complex Assembly Cellular Response To Epinephrine Stimulus Organelle Localization Cell Junction Organization Positive Regulation Of Receptor Recycling Regulation Of SNARE Complex Assembly Negative Regulation Of Microtubule Polymerization Negative Regulation Of Platelet-derived Growth Factor Receptor Signaling Pathway ATP Synthesis Coupled Electron Transport Synaptic Transmission, Dopaminergic Response To Epinephrine Regulation Of Hydrogen Peroxide Metabolic Process Platelet Alpha Granule Membrane Synaptic Vesicle Priming Response To Magnesium Ion
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