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FLASH GENE

Symbol

SLC6A17

contributors: mct - updated : 21-03-2015

HGNC name	solute carrier family 6, member 17
HGNC id	31399

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MRT48 mental retardation, autosomal recessive 48
Location	1p13.3      Physical location : 110.693.131 - 110.744.821
Synonym name	solute carrier family 6 (neurotransmitter transporter), member 17
	orphan sodium- and chloride-dependent neurotransmitter transporter NTT4
Synonym symbol(s)	NTT4, XT1

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
STRUCTURE	51.69 kb     12 Exon(s)

regulatory sequence

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001010898 12 - 6422 NP_001010898 80.9 727 - 2005 16125675

EXPRESSION

Type	restricted

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 Nervous brain       predominantly Homo sapiens   brain forebrain cerebral cortex   highly Homo sapiens   brain limbic system hippocampus   highly Homo sapiens Reproductive female system

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

GlycoP , PhosphoP

HOMOLOGY

Homologene

FAMILY	SLC6 family of structurally related, Na+-dependent transporter proteins
	sodium:neurotransmitter symporter (SNF) family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
text	predominant localization of heterologously expressed NTT4/XT1 to intracellular membranes )
	synaptic vesicles
	expression specifically in glutamatergic and some GABAergic neurons

basic FUNCTION	neutral amino acid transporter with a substrate profile similar to SLC6A15
	orphan transporter, Na(+)-dependent, Cl(-)-independent
	functions as a selective transporter of four amino acids (proline, glycine, leucine, and alanine), as well as glutamate
	synaptic vesicular transporter of neutral amino acids and glutamate, playing an important role in the regulation of glutamatergic synapses

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

Other

transport inhibited by low pH

ASSOCIATED DISORDERS

corresponding disease(s)

MRT48

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS