SLC6A8 and TAFAZZIN

Data Source: HiPPIP (Novel)

		SLC6A8	TAFAZZIN
Name		solute carrier family 6 member 8	tafazzin, phospholipid-lysophospholipid transacylase
Structure		No pdb structure	No pdb structure
GO Annotations	Cellular Component	Plasma Membrane Membrane Apical Plasma Membrane	Cytoplasm Mitochondrion Mitochondrial Outer Membrane Mitochondrial Inner Membrane Mitochondrial Intermembrane Space Membrane Mitochondrial Membrane
	Molecular Function	Creatine Transmembrane Transporter Activity Creatine:sodium Symporter Activity Gamma-aminobutyric Acid:sodium:chloride Symporter Activity Symporter Activity Transmembrane Transporter Activity	1-acylglycerol-3-phosphate O-acyltransferase Activity O-acyltransferase Activity Transferase Activity Acyltransferase Activity 1-acylglycerophosphocholine O-acyltransferase 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	Lipid Metabolic Process Phospholipid Metabolic Process Inner Mitochondrial Membrane Organization Cardiolipin Acyl-chain Remodeling Cristae Formation Positive Regulation Of Cardiolipin Metabolic Process Positive Regulation Of ATP Biosynthetic Process
Pathways		Creatine metabolism	Mitochondrial protein import Mitochondrial protein import Acyl chain remodeling of CL
Drugs		Creatine Phosphocreatine	None
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)	Dilated cardiomyopathy (DCM) Barth syndrome (BTHS) 3-Methylglutaconic aciduria (MGCA)
GWAS		No GWAS studies recorded	No GWAS studies recorded
Novel Interactors		1 novel interactors: TAFAZZIN	7 novel interactors: CCDC88C OPN1LW RPL10 SLC6A8 SSR4 TRAK2 VBP1
Interacting Genes		3 interacting genes: BDKRB1 CD59 CHRM5	12 interacting genes: BTRC CFTR CHGB CSNK1E GSK3B LATS2 NHERF2 NONO RUNX1 USP14 USP26 YWHAE
Entrez ID		6535	6901
HPRD ID		02073	02316
Ensembl ID		ENSG00000130821	ENSG00000102125
Uniprot IDs		P48029 Q59EV7 X5D9C4	A0A0S2Z4E6 A0A0S2Z4F4 A0A0S2Z4K0 A0A0S2Z4K9 A6XNE1 Q16635
PDB IDs		Not available	Not available
GO Terms Enriched among Interactors		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	Regulation Of Proteolysis Regulation Of Proteasomal Protein Catabolic Process Regulation Of Canonical Wnt Signaling Pathway Regulation Of Circadian Rhythm Wnt Signaling Pathway Regulation Of Protein Metabolic Process Regulation Of Wnt Signaling Pathway Regulation Of Ubiquitin-dependent Protein Catabolic Process Regulation Of Protein Catabolic Process Negative Regulation Of Wnt Signaling Pathway Negative Regulation Of Ubiquitin-dependent Protein Catabolic Process Negative Regulation Of Proteasomal Protein Catabolic Process Negative Regulation Of Proteolysis Involved In Protein Catabolic Process G1/S Transition Of Mitotic Cell Cycle Cell Cycle G1/S Phase Transition Rhythmic Process Canonical Wnt Signaling Pathway Beta-catenin Binding Positive Regulation Of Protein Export From Nucleus Positive Regulation Of Hippo Signaling Negative Regulation Of Protein Catabolic Process Deubiquitinase Activity Negative Regulation Of Protein Metabolic Process Hippo Signaling Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Circadian Rhythm Negative Regulation Of Canonical Wnt Signaling Pathway Negative Regulation Of Proteolysis Negative Regulation Of Signal Transduction Mitotic Cell Cycle Phase Transition Regulation Of Intracellular Signal Transduction Negative Regulation Of Cell Communication Negative Regulation Of Signaling Proteasome-mediated Ubiquitin-dependent Protein Catabolic Process Regulation Of Protein Export From Nucleus Negative Regulation Of Catabolic Process Cell Cycle Phase Transition Negative Regulation Of Macromolecule Metabolic Process Intracellularly ATP-gated Chloride Channel Activity Positive Regulation Of Voltage-gated Chloride Channel Activity Sec61 Translocon Complex Binding Regulation Of Microtubule Anchoring At Centrosome Creatine:sodium Symporter Activity Negative Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Regulation Of Hippo Signaling Protein Modification Process Negative Regulation Of Protein Localization To Nucleus Positive Regulation Of Proteolysis Non-canonical Wnt Signaling Pathway Negative Regulation Of Metabolic Process