GABA transporter type 1

SLC6A1
Identifiers
Aliases	SLC6A1, GABATHG, GABATR, GAT1, MAE, GABA transporter 1, solute carrier family 6 member 1
External IDs	OMIM: 137165; MGI: 95627; HomoloGene: 2290; GeneCards: SLC6A1; OMA:SLC6A1 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	11,039,247 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	114,294,493 bp
RNA expression pattern
	Top expressed in
	lateral nuclear group of thalamus; ; external globus pallidus; ; cerebellar vermis; ; subthalamic nucleus; ; postcentral gyrus; ; pars reticulata; ; superior vestibular nucleus; ; prefrontal cortex; ; orbitofrontal cortex; ; caudate nucleus;
	Top expressed in
	lobe of cerebellum; ; dorsal tegmental nucleus; ; cerebellar vermis; ; globus pallidus; ; lateral septal nucleus; ; ventral tegmental area; ; lateral hypothalamus; ; superior colliculus; ; dorsomedial hypothalamic nucleus; ; anterior amygdaloid area;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	metal ion binding; neurotransmitter:sodium symporter activity; symporter activity; gamma-aminobutyric acid:sodium symporter activity; neurotransmitter binding; protein binding;
Cellular component	integral component of membrane; membrane; plasma membrane; integral component of plasma membrane; neuron projection; cell surface; axon; GABA-ergic synapse; integral component of postsynaptic membrane; integral component of presynaptic membrane;
Biological process	chemical synaptic transmission; gamma-aminobutyric acid transport; transmembrane transport; neurotransmitter transport; learning; response to toxic substance; response to sucrose; response to organic substance; response to organonitrogen compound; response to lead ion; positive regulation of gamma-aminobutyric acid secretion; response to organic cyclic compound; response to purine-containing compound; negative regulation of synaptic transmission, GABAergic; response to estradiol; response to cocaine; protein homooligomerization; response to calcium ion; gamma-aminobutyric acid import;
	Sources:Amigo / QuickGO
Orthologs
	6529
	232333
	ENSG00000157103
	ENSMUSG00000030310
	P30531
	P31648
	NM_003042; NM_001348250; NM_001348251; NM_001348252; NM_001348253
	NM_178703
	NP_003033; NP_001335179; NP_001335180; NP_001335181; NP_001335182
	NP_848818
	Wikidata
View/Edit Human	View/Edit Mouse

GABA transporter 1 (GAT1) also known as sodium- and chloride-dependent GABA transporter 1 is a protein that in humans is encoded by the SLC6A1 gene and belongs to the solute carrier 6 (SLC6) family of transporters.^[5]^[6]^[7] It mediates gamma-aminobutyric acid's translocation from the extracellular to intracellular spaces within brain tissue and the central nervous system as a whole.^[8]^[9]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000157103 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000030310 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Huang F, Shi LJ, Heng HH, Fei J, Guo LH (September 1995). "Assignment of the human GABA transporter gene (GABATHG) locus to chromosome 3p24-p25". Genomics. 29 (1): 302–304. doi:10.1006/geno.1995.1253. PMID 8530094.
^ "Entrez Gene: SLC6A1 solute carrier family 6 (neurotransmitter transporter, GABA), member 1".
^ Scimemi, A (2014). "Structure, function, and plasticity of GABA transporters". Frontiers in Cellular Neuroscience. 8: 161. doi:10.3389/fncel.2014.00161. PMC 4060055. PMID 24987330.
^ Gonzalez-Burgos G (2010). "GABA transporter GAT1: a crucial determinant of GABAB receptor activation in cortical circuits?". GABABReceptor Pharmacology - A Tribute to Norman Bowery. Advances in Pharmacology. Vol. 58. pp. 175–204. doi:10.1016/S1054-3589(10)58008-6. ISBN 9780123786470. PMID 20655483.
^ Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, et al. (February 2018). "Defining the phenotypic spectrum of SLC6A1 mutations". Epilepsia. 59 (2): 389–402. doi:10.1111/epi.13986. PMC 5912688. PMID 29315614.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000157103 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000030310 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8530094-5] Huang F, Shi LJ, Heng HH, Fei J, Guo LH (September 1995). "Assignment of the human GABA transporter gene (GABATHG) locus to chromosome 3p24-p25". Genomics. 29 (1): 302–304. doi:10.1006/geno.1995.1253. PMID 8530094.

[entrez-6] "Entrez Gene: SLC6A1 solute carrier family 6 (neurotransmitter transporter, GABA), member 1".

[7] Scimemi, A (2014). "Structure, function, and plasticity of GABA transporters". Frontiers in Cellular Neuroscience. 8: 161. doi:10.3389/fncel.2014.00161. PMC 4060055. PMID 24987330.

[Gonzalez-Burgo_2010-8] Gonzalez-Burgos G (2010). "GABA transporter GAT1: a crucial determinant of GABAB receptor activation in cortical circuits?". GABABReceptor Pharmacology - A Tribute to Norman Bowery. Advances in Pharmacology. Vol. 58. pp. 175–204. doi:10.1016/S1054-3589(10)58008-6. ISBN 9780123786470. PMID 20655483.

[9] Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, et al. (February 2018). "Defining the phenotypic spectrum of SLC6A1 mutations". Epilepsia. 59 (2): 389–402. doi:10.1111/epi.13986. PMC 5912688. PMID 29315614.

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