Substrate In Vitro Evidence:
GABA in HeLa cells
Bennett at al 2000, JBC, Vol 275 (44), p. 34106-13
Several chemical inhibitors of GABA uptake including: cis-3-aminocyclohexane carboxylic acid (ACHC), l-2,4-diamino-N-butyric acid (DABA), nipecotic acid, NO-711, SKF89976A, SKF100330A, and tiagabine
Soudijn et al 2000, Curr Med Chem, Vol 7 (10), p. 1063-1079
Substrate In Vivo Evidence:
Mice over expressing GAT-1 are an animal model for seizures. The chemical inhibitor ethyl nipecotate inhibited the induced seizures in both GAT-1 overexpressing and control mice
Zhao et al 2003, Acta Pharmacol Sin, Vol 24 (10), p. 991-95
Tigabine is a cinically approved antiepileptic drug that is an inhibitor of GAT-1 transport
Chen et al 2003, Pflugers Arch
GAT-1 expression levels may be associated with schizophrenia
Volk et al 2001, Am J Psychiatry, Vol 158 (2), p.256-65
Tissue Distribution Evidence:
Neocortex, hippocampus, cerebellum, basal ganglia, spinal cord, olfactory bulb, retina by Northern Hybridization
Nelson et al 1990, FEBS Letters, Vol 269 (1), p.181-4
Intracellular Vesicles by confocal microscopy
Deken et al 2003, J Neuroscience, Vol 23 (5), p.1563-68
The heat map summarizes relative expression by tissue type
at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'.
Choose among four calculated expression values, including mean and median RPKM
values, and quantile normalized (QN) distributions of these values.
(Note that differences between some distributions are subtle.)
The coloring is relative to the mean of all displayed values.
All values are log base 2. (See also PMT GTEx Expression Plotting.)
Click on a transcript or tissue to resort the data.
Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.
20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes). Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays. Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21) A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)