SLC6A8 and CD59

Data Source:
HPRD (in vivo)

		SLC6A8	CD59
Description		solute carrier family 6 member 8	CD59 molecule (CD59 blood group)
Image		No pdb structure
GO Annotations	Cellular Component	Plasma Membrane Integral Component Of Plasma Membrane Integral Component Of Membrane	Golgi Membrane Extracellular Space Endoplasmic Reticulum Membrane Plasma Membrane Focal Adhesion Cell Surface ER To Golgi Transport Vesicle Membrane Membrane Transport Vesicle Anchored Component Of External Side Of Plasma Membrane Vesicle Endoplasmic Reticulum-Golgi Intermediate Compartment Membrane Specific Granule Membrane Extracellular Exosome Tertiary Granule Membrane
	Molecular Function	Molecular_function Creatine Transmembrane Transporter Activity Creatine:sodium Symporter Activity	Complement Binding Protein Binding
	Biological Process	Creatine Metabolic Process Neurotransmitter Transport Muscle Contraction Creatine Transmembrane Transport Sodium Ion Transmembrane Transport Nitrogen Compound Transport	Negative Regulation Of Activation Of Membrane Attack Complex Endoplasmic Reticulum To Golgi Vesicle-mediated Transport Cell Surface Receptor Signaling Pathway Blood Coagulation Regulation Of Complement Activation Neutrophil Degranulation COPII Vesicle Coating Regulation Of Complement-dependent Cytotoxicity
Pathways		Creatine metabolism	COPII-mediated vesicle transport Cargo concentration in the ER Neutrophil degranulation COPI-mediated anterograde transport Regulation of Complement cascade
Drugs		Creatine Phosphocreatine
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) 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)	Complement regulatory protein defects, including the following six diseases: C1 inhibitor deficiency (hereditary angioedema); C4 binding protein alpha deficiency; C4 binding protein beta deficiency; Factor I deficiency; Decay-accelerating factor (CD55) deficiency; CD59 deficiency
GWAS			Blood protein levels ( 30072576 29875488) Body size at age 10 ( 32376654) Chronotype ( 30696823) Fruit consumption ( 32066663) Morning person ( 30696823)
Interacting Genes		3 interacting genes: BDKRB1 CD59 CHRM5	16 interacting genes: C8A C9 CCR2 CD2 CD8A CD9 CHRM4 EGFR FAM209A GNAI3 NCR1 NCR3 SLC13A1 SLC6A8 SMAD4 SRC
Entrez ID		6535	966
HPRD ID		02073	00117
Ensembl ID		ENSG00000130821	ENSG00000085063
Uniprot IDs		P48029 Q59EV7 X5D9C4	P13987 Q6FHM9
PDB IDs			1CDQ 1CDR 1CDS 1ERG 1ERH 2J8B 2OFS 2UWR 2UX2 4BIK 5IMT 5IMY
Enriched GO Terms of Interacting Partners?
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