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FLASH GENE

Symbol

SLC6A8

contributors: mct/pgu - updated : 13-06-2018

HGNC name	solute carrier family 6 (neurotransmitter transporter, creatine), member 8
HGNC id	11055

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

twelve transmembrane segments

HOMOLOGY

interspecies	homolog to C.elegans T03F7.1
	homolog to murine Slc6a8

Homologene

FAMILY	sodium neurotransmitter symporter family
	SLC6A8 subfamily

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
text	presence of a functional SLC6A8 in the axon terminal membrane that may serve to recapture the creatine released during the synapsis

basic FUNCTION	Na+ (and Cl-) dependent plasma membrane transporter required for the uptake of creatine
	playing an essential role in the storage and transmission of phosphate-bound energy
	in most brain regions, may be transporting guanidinoacetate from GATM/GAMT-expressing cells to allow creatine synthesis
	. is an important metabolic regulator controlling antitumor T cell immunity

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with SGK1, SGK3 (increase SLC6A8 activity by increasing the maximal transport rate of the carrier)
	Klotho protein up-regulates the activity of creatine transporter SLC6A8 by stabilizing the carrier protein in the cell membrane, an effect requiring beta-glucuronidase activity of KL protein
	both, STK39 and OSR1, are negative regulators of the creatine transporter SLC6A8
	JAK3 is a powerful negative regulator of SLC6A8

cell & other

REGULATION

activated by

FRAP1

ASSOCIATED DISORDERS

corresponding disease(s)

CRTRD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in astrocytes around the blood-brain barrier limits the brain capacity to import creatine from the periphery, and suggests that the CNS has to rely mainly on endogenous creatine synthesis through GATM/GAMT constitutional     --low   depletion of intracellular creatine by ablation of the creatine transporter SLC6A8 altered macrophage-mediated immune responses constitutional     --low   in dopaminergic neurons causes hyperactivity while sparing motor function

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer     potential of creatine supplementation to improve T cell-based cancer immunotherapies cancer lung   expected to become a molecular target for NSCLC treatment

ANIMAL & CELL MODELS