CD59 and SLC6A8

Data Source:
HPRD (in vivo)

		CD59	SLC6A8
Description		CD59 molecule (CD59 blood group)	solute carrier family 6 member 8
Image			No pdb structure
GO Annotations	Cellular Component	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	Plasma Membrane Integral Component Of Plasma Membrane Integral Component Of Membrane
	Molecular Function	Complement Binding Protein Binding	Molecular_function Creatine Transmembrane Transporter Activity Creatine:sodium Symporter Activity
	Biological Process	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	Creatine Metabolic Process Neurotransmitter Transport Muscle Contraction Creatine Transmembrane Transport Sodium Ion Transmembrane Transport Nitrogen Compound Transport
Pathways		COPII-mediated vesicle transport Cargo concentration in the ER Neutrophil degranulation COPI-mediated anterograde transport Regulation of Complement cascade	Creatine metabolism
Drugs			Creatine Phosphocreatine
Diseases		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	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)
GWAS		Blood protein levels ( 30072576 29875488) Body size at age 10 ( 32376654) Chronotype ( 30696823) Fruit consumption ( 32066663) Morning person ( 30696823)
Interacting Genes		16 interacting genes: C8A C9 CCR2 CD2 CD8A CD9 CHRM4 EGFR FAM209A GNAI3 NCR1 NCR3 SLC13A1 SLC6A8 SMAD4 SRC	3 interacting genes: BDKRB1 CD59 CHRM5
Entrez ID		966	6535
HPRD ID		00117	02073
Ensembl ID		ENSG00000085063	ENSG00000130821
Uniprot IDs		P13987 Q6FHM9	P48029 Q59EV7 X5D9C4
PDB IDs		1CDQ 1CDR 1CDS 1ERG 1ERH 2J8B 2OFS 2UWR 2UX2 4BIK 5IMT 5IMY
Enriched GO Terms of Interacting Partners?
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