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FLASH GENE

Symbol

SLC6A6

contributors: mct - updated : 19-01-2013

HGNC name	solute carrier family 6 (neurotransmitter transporter, taurine), member 6
HGNC id	11052

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	3p25.1      Physical location : 14.444.105 - 14.530.855
Synonym name	sodium- and chloride-dependent taurine transporter
	taurine-Na-dependent transporter
Synonym symbol(s)	TAUT

DNA

TYPE	functioning gene
STRUCTURE	86.75 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site
text structure	HSF1 binding element in the promoter

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003043 15 - 6516 NP_003034 - 620 - 2003 12681485 NM_001134367 15 - 6512 NP_001127839 - 620 - 2003 12681485 NM_001134368 5 - 1286 NP_001127840 - 200 - 2003 12681485

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular vessel         Homo sapiens Adult Digestive intestine       highly Homo sapiens Adult Reproductive female system breast mammary gland     Visual eye retina       Homo sapiens Adult

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Epithelial absorptive excretory digestive epithelium (mucosa)     Homo sapiens Adult Muscular smooth vessel     Homo sapiens Adult

cells

System Cell Pubmed Species Stage Rna symbol Digestive enterocyte Homo sapiens Adult Visual Muller cell Homo sapiens Adult

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

12 transmembrane segments (12TM)

conjugated

GlycoP

HOMOLOGY

interspecies	ortholog to rattus Slc6a6
	ortholog to murine Slc6a6

Homologene

FAMILY

solute carrier family 6, neurotansmitter, taurine

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	Na+ (and Cl-) dependent plasma membrane transporter
	functional SLC6A6 plays a critical role in protecting against cisplatin-induced nephrotoxicity, possibly by attenuating a TP53-dependent pathway
	has the ability to use GABA as a substrate and Slc6a6/TauT-mediated GABA transport appears to be present at the inner blood-retinal barrier
	Na(+)- and Cl(-)-dependent, high-affinity, low-capacity transporter of taurine and beta-alanine
	may be important for taurine supply to the intestinal epithelium and for taurine capture between meals
	plays a critical role in renal function
	possible involvement in taurine uptake by Müller cells in retina
	critical for rescuing T cells from activation-induced cell death
	osmolyte transporter that is crucial for T-cell survival and T-cell mediated immune reactions

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

aminoacid

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

its expression is negatively regulated by TP53 and positively regulated by c-Jun, which is mediated by the JNK signaling pathway

cell & other

REGULATION

Other

regulated by WT1

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in spinal motor neurons of patients with ALS, and elevated expression of SLC6A6 directly contributes to increased taurine uptake in ALS motor neurons constitutional     --over   in mononuclear peripheral blood cells of type 2 diabetic patients, while presence of retinopathy is specifically associated with a drop in SLC6A6 overexpression, suggesting its possible involvement in this microangiopathic lesion

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	is a novel pathological marker for stressed motor neurons in ALS
Therapy target
	System Type Disorder Pubmed neurology neurodegenerative   modulation of SLC6A6 and taurine may slow neuronal degeneration in ALS

ANIMAL & CELL MODELS

hereditary taurine deficiency in taurine-transporter knock-out (TAUT KO) mice results in disinhibition of striatal network activity, which can be corrected by taurine supplementation