SLC6A17 Membrane Protein Introduction

Introduction of SLC6A17

SLC6A17 is encoded by SLC6A17 gene. It belongs to the solute carrier family 6 which has been extensively studied during the past few decades because it offers numerous possibilities for therapeutic applications. SLC6A17 transports one, two or three sodium ion(s) together with their organic substrate (symport). It also transports amino acids, of which some are neurotransmitters (glycine and GABA) and the others transport related molecules, such as monoamine neurotransmitters (serotonin, norepinephrine, and dopamine), creatine, or compatible osmolytes (taurine and betaine). Studies conducted on SLC6A17 show that it is related to a wide range of mental illness, such as mental retardation and autosomal recessive 48.

Basic Information of SLC6A17
Protein Name	Sodium-dependent neutral amino acid transporter SLC6A17
Gene Name	SLC6A17
Aliases	NTT4
Organism	Homo sapiens (Human)
UniProt ID	Q9H1V8
Transmembrane Times	12
Length (aa)	727
Sequence	MPKNSKVTQREHSSEHVTESVADLLALEEPVDYKQSVLNVAGEAGGKQKAVEEELDAEDRPAWNSKLQYILAQIGFSVGLGNIWRFPYLCQKNGGGAYLVPYLVLLIIIGIPLFFLELAVGQRIRRGSIGVWHYICPRLGGIGFSSCIVCLFVGLYYNVIIGWSIFYFFKSFQYPLPWSECPVVRNGSVAVVEAECEKSSATTYFWYREALDISDSISESGGLNWKMTLCLLVAWSIVGMAVVKGIQSSGKVMYFSSLFPYVVLACFLVRGLLLRGAVDGILHMFTPKLDKMLDPQVWREAATQVFFALGLGFGGVIAFSSYNKQDNNCHFDAALVSFINFFTSVLATLVVFAVLGFKANIMNEKCVVENAEKILGYLNTNVLSRDLIPPHVNFSHLTTKDYMEMYNVIMTVKEDQFSALGLDPCLLEDELDKSVQGTGLAFIAFTEAMTHFPASPFWSVMFFLMLINLGLGSMIGTMAGITTPIIDTFKVPKEMFTVGCCVFAFLVGLLFVQRSGNYFVTMFDDYSATLPLTLIVILENIAVAWIYGTKKFMQELTEMLGFRPYRFYFYMWKFVSPLCMAVLTTASIIQLGVTPPGYSAWIKEEAAERYLYFPNWAMALLITLIVVATLPIPVVFVLRHFHLLSDGSNTLSVSYKKGRMMKDISNLEENDETRFILSKVPSEAPSPMPTHRSYLGPGSTSPLETSGNPNGRYGSGYLLASTPESEL

Function of SLC6A17 Membrane Protein

SLC6A17 also named as solute carrier family 6 (neurotransmitter transporter), member 17, is a sodium-dependent neurotransmitter transporter. It is expressed exclusively in the nervous system and specifically on synaptic vesicles in glutamatergic and some GABAergic neurons. Recent studies indicate that SLC6A17 defects are associated with severe intellectual disability, such as speech impairment, and behavioral problems. In addition, SLC6A17 has been studied as the Rxt1/NTT4 protein that functions as a vesicular transporter for proline, glycine, leucine, and alanine. It also plays an important role in synaptic transmission.

SLC6A17 Membrane Protein Introduction Fig.1 Phylogenetic tree of the SLC6 transporter family. (Kristensen, 2011)

Application of SLC6A17 Membrane Protein in Literature

Iqbal Z., et al. Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems, SLC6A17 and Adora1 genes. Am J Hum Genet. 2015. 96(3): 386-96. PubMed ID: 25704603

This article reports the relationship between SLC6A17 gene polymorphism and severe intellectual disability with progressive tremor, speech impairment, and behavioral problems in certain individuals. These results indicate that homozygous SLC6A17 mutations could be involved in the pathogenesis of these diseases.
Hägglund M.G., et al. Characterization of the transporterB0AT3 (Slc6a17) in the rodent central nervous system. BMC Neurosci. 2013, 14:54. PubMed ID: 23672601

This article analyzes the expression level of SLC6A17 in mouse brain using in situ hybridization and immunohistochemistry. The data demonstrate that B0AT3 is highly expressed in both inhibitory and excitatory neurons.
Vastagh C., et al. Altered expression of genes encoding neurotransmitter receptors in GnRH neurons of proestrous mice. Front Cell Neurosci. 2016, 10:230. PubMed ID: 27774052

Authors in this group examine the expression of SLC6A17 in the gonadotropin-releasing hormone neurons. The data suggest that differential gene expression is most apparent in GABA-ergic and cholinergic genes.

SLC6A17 Preparation Options

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Reference

Kristensen A S, et al. (2011). SLC6 neurotransmitter transporters: structure, function, and regulation. Pharmacol Rev. 63(3), 585-640.

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