SLC9A6

Description		solute carrier family 9 member A6
Image		No pdb structure
GO Annotations	Cellular Component	Mitochondrion Endosome Endoplasmic Reticulum Membrane Plasma Membrane Endosome Membrane Membrane Early Endosome Membrane Late Endosome Membrane Recycling Endosome Recycling Endosome Membrane
	Molecular Function	Protein Binding Antiporter Activity Sodium:proton Antiporter Activity Potassium:proton Antiporter Activity Identical Protein Binding
	Biological Process	Monoatomic Ion Transport Monoatomic Cation Transport Sodium Ion Transport Regulation Of PH Establishment Of Cell Polarity Axon Extension Neuron Projection Morphogenesis Regulation Of Intracellular PH Transmembrane Transport Potassium Ion Transmembrane Transport Dendrite Extension Sodium Ion Import Across Plasma Membrane Proton Transmembrane Transport
Pathways		Sodium/Proton exchangers Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH)
Drugs
Diseases		Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS)
GWAS
Novel Interacting Genes		1 novel interacting genes: CFTR
Interacting Genes		1 interacting genes: CFTR
Entrez ID		10479
HPRD ID		02208
Ensembl ID		ENSG00000198689
Uniprot IDs		A0A0D9SGH0 A0A1B0GV11 A0A7I2V2B0 Q92581
PDB IDs
Enriched GO Terms of Interacting Partners?		Positive Regulation Of Anion Channel Activity Intracellularly ATP-gated Chloride Channel Activity Positive Regulation Of Voltage-gated Chloride Channel Activity Sec61 Translocon Complex Binding Positive Regulation Of Monoatomic Anion Transport Positive Regulation Of Enamel Mineralization Positive Regulation Of Tooth Mineralization Chloride Channel Inhibitor Activity Transepithelial Water Transport Chloride Channel Regulator Activity Regulation Of Enamel Mineralization Membrane Hyperpolarization Bicarbonate Transmembrane Transporter Activity Intracellular PH Elevation Amelogenesis ATPase-coupled Inorganic Anion Transmembrane Transporter Activity Regulation Of Monoatomic Anion Transport Epithelial Fluid Transport Golgi-associated Vesicle Membrane Cellular Response To Forskolin Response To Forskolin Chloride Transmembrane Transporter Activity Sperm Capacitation Bicarbonate Transport Water Transport Multicellular Organismal-level Water Homeostasis Positive Regulation Of Insulin Secretion Involved In Cellular Response To Glucose Stimulus Positive Regulation Of Ion Transmembrane Transporter Activity Cholesterol Biosynthetic Process 14-3-3 Protein Binding Fluid Transport Transepithelial Transport Vesicle Docking Involved In Exocytosis Positive Regulation Of Transporter Activity ABC-type Transporter Activity Sterol Biosynthetic Process Chloride Channel Complex Positive Regulation Of Biomineral Tissue Development Cellular Response To CAMP Regulation Of Insulin Secretion Involved In Cellular Response To Glucose Stimulus Vesicle Docking Cholesterol Transport Clathrin-coated Endocytic Vesicle Membrane Odontogenesis Of Dentin-containing Tooth Chloride Channel Activity Multicellular Organismal-level Chemical Homeostasis Regulation Of Cellular PH Regulation Of Transmembrane Transporter Activity Membrane Docking Positive Regulation Of Exocytosis
Tagcloud ?