SLC6A8

Description		solute carrier family 6 member 8
Image		No pdb structure
GO Annotations	Cellular Component	Plasma Membrane Membrane Apical Plasma Membrane
	Molecular Function	Creatine Transmembrane Transporter Activity Creatine:sodium Symporter Activity Gamma-aminobutyric Acid:sodium:chloride Symporter Activity Symporter Activity Transmembrane Transporter Activity
	Biological Process	Creatine Metabolic Process Monoatomic Ion Transport Sodium Ion Transport Neurotransmitter Transport Amino Acid Transport Muscle Contraction Gamma-aminobutyric Acid Transport Creatine Transmembrane Transport Sodium Ion Transmembrane Transport
Pathways		Creatine metabolism
Drugs		Creatine Phosphocreatine
Diseases		Non-syndromic X-linked mental retardation Creatine deficiency syndrome, including: Arginine:glycine amidinotransferase deficiency (AGAT deficiency); Guanidinoacetate methyltransferase deficiency (GAMT deficiency); X-linked creatine deficiency syndrome (XL-CDS) 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		4 novel interacting genes: BDKRB1 CD59 CHRM5 TAFAZZIN
Interacting Genes		4 interacting genes: BDKRB1 CD59 CHRM5 TAFAZZIN
Entrez ID		6535
HPRD ID		02073
Ensembl ID		ENSG00000130821
Uniprot IDs		P48029 Q59EV7 X5D9C4
PDB IDs
Enriched GO Terms of Interacting Partners?		Regulation Of Phospholipid Metabolic Process Bradykinin Receptor Activity Negative Regulation Of Complement-dependent Cytotoxicity Negative Regulation Of Activation Of Membrane Attack Complex G Protein-coupled Acetylcholine Receptor Activity Regulation Of Phosphatidylinositol Dephosphorylation Regulation Of Cardiolipin Metabolic Process Cardiolipin Acyl-chain Remodeling Positive Regulation Of Cardiolipin Metabolic Process 1-acylglycerophosphocholine O-acyltransferase Activity Complement Binding Adenylate Cyclase-inhibiting G Protein-coupled Acetylcholine Receptor Signaling Pathway Gastric Acid Secretion Regulation Of Lipid Metabolic Process G Protein-coupled Receptor Activity Regulation Of Complement-dependent Cytotoxicity Negative Regulation Of Complement Activation Cardiolipin Metabolic Process Positive Regulation Of ATP Biosynthetic Process Cristae Formation Regulation Of Complement Activation Regulation Of Dephosphorylation G Protein-coupled Acetylcholine Receptor Signaling Pathway Transmission Of Nerve Impulse Dopamine Transport 1-acylglycerol-3-phosphate O-acyltransferase Activity O-acyltransferase Activity Regulation Of ATP Biosynthetic Process Phosphatidylinositol-4,5-bisphosphate Phospholipase C Activity Acid Secretion Regulation Of Phosphorus Metabolic Process Peptide Binding Monoamine Transport Phosphatidylglycerol Metabolic Process Positive Regulation Of Release Of Sequestered Calcium Ion Into Cytosol Positive Regulation Of ATP Metabolic Process Inner Mitochondrial Membrane Organization Protein Sequestering Activity Acetylcholine Receptor Signaling Pathway Negative Regulation Of Blood Pressure Regulation Of Humoral Immune Response Postsynaptic Signal Transduction G Protein-coupled Receptor Signaling Pathway Complement Activation G Protein-coupled Receptor Signaling Pathway, Coupled To Cyclic Nucleotide Second Messenger
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