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

Stable Identifier
R-HSA-444120
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
glycine:sodium symporter activity of SLC6A5,9 [plasma membrane]
Physical Entity
Activity
Orthologous Events
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Reviewed
Created