Reactome | SLC6A5,9 cotransport Gly, Cl-, Na+ from extracellular region to cytosol

SLC6A5,9 cotransport Gly, Cl-, Na+ from extracellular region to cytosol

Stable Identifier

R-HSA-444120

Type

Reaction [transition]

Species

Homo sapiens

Compartment

plasma membrane

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SLC6A5,9 cotransport Gly, Cl-, Na+ from extracellular region to cytosol

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The amino acid glycine plays an important role in neurotransmission. Its action is terminated by rapid re-uptake into the pre-synaptic terminal or surrounding glial cells. This re-uptake is mediated by the sodium- and chloride-dependent glycine transporters 1 and 2 (GLYT1 and GLYT2 respectively). GLYT1 is encoded by the human gene SLC6A9 and is expressed in the brain, liver, kidney, pancreas, lung and placenta (Kim KM et al, 1994). GLYT2 is encoded by the human gene SLC6A5 and is predominantly expressed in the medulla (Morrow JA et al, 1998). Defects in SLC6A5 cause startle disease (STHE or hyperekplexia). STHE is is a human neurological disorder characterized by an excessive startle response (Rees MI et al, 2006).

Literature References

PubMed ID	Title	Journal	Year
8183239	Cloning of the human glycine transporter type 1: molecular and pharmacological characterization of novel isoform variants and chromosomal localization of the gene in the human and mouse genomes Kim, KM, Kingsmore, SF, Han, H, Yang-Feng, TL, Godinot, N, Seldin, MF, Caron, MG, Giros, B	Mol Pharmacol	1994
9845349	Molecular cloning and functional expression of the human glycine transporter GlyT2 and chromosomal localisation of the gene in the human genome Morrow, JA, Collie, IT, Dunbar, DR, Walker, GB, Shahid, M, Hill, DR	FEBS Lett	1998
16751771	Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease Rees, MI, Harvey, K, Pearce, BR, Chung, SK, Duguid, IC, Thomas, P, Beatty, S, Graham, GE, Armstrong, L, Shiang, R, Abbott, KJ, Zuberi, SM, Stephenson, JB, Owen, MJ, Tijssen, MA, van den Maagdenberg, AM, Smart, TG, Supplisson, S, Harvey, RJ	Nat Genet	2006