SLC6A1

Solute carrier family 6 (neurotransmitter transporter, GABA), member 1
Identifiers
Symbol(s)	SLC6A1; GABATHG; GABATR; GAT1
External IDs	OMIM: 137165 MGI: 95627 Homologene: 2290
Gene ontology Molecular Function: • neurotransmitter:sodium symporter activity • gamma-aminobutyric acid:sodium symporter activity • symporter activity Cellular Component: • membrane fraction • integral to plasma membrane • membrane • axon Biological Process: • neurotransmitter transport • synaptic transmission
RNA expression pattern
250px More reference expression data
Orthologs
	Human	Mouse
Entrez	6529	232333
Ensembl	ENSG00000157103	ENSMUSG00000030310
Uniprot	P30531	Q6PCX2
Refseq	NM_003042 (mRNA) NP_003033 (protein)	XM_975926 (mRNA) XP_981020 (protein)
Location	Chr 3: 11.01 - 11.06 Mb	Chr 6: 114.25 - 114.28 Mb
Pubmed search	[1]	[2]

Solute carrier family 6 (neurotransmitter transporter, GABA), member 1, also known as SLC6A1, is a human gene.

See also

• Sodium:neurotransmitter symporter
• Solute carrier family

Further reading

• Nelson H, Mandiyan S, Nelson N (1990). "Cloning of the human brain GABA transporter.". FEBS Lett. 269 (1): 181-4. PMID 2387399.
• Huang F, Shi LJ, Heng HH, et al. (1996). "Assignment of the human GABA transporter gene (GABATHG) locus to chromosome 3p24-p25.". Genomics 29 (1): 302-4. doi:10.1006/geno.1995.1253. PMID 8530094.
• Bennett ER, Kanner BI (1997). "The membrane topology of GAT-1, a (Na+ + Cl-)-coupled gamma-aminobutyric acid transporter from rat brain.". J. Biol. Chem. 272 (2): 1203-10. PMID 8995422.
• Bismuth Y, Kavanaugh MP, Kanner BI (1997). "Tyrosine 140 of the gamma-aminobutyric acid transporter GAT-1 plays a critical role in neurotransmitter recognition.". J. Biol. Chem. 272 (26): 16096-102. PMID 9195904.
• DeFelipe J, González-Albo MC (1998). "Chandelier cell axons are immunoreactive for GAT-1 in the human neocortex.". Neuroreport 9 (3): 467-70. PMID 9512391.
• Conti F, Melone M, De Biasi S, et al. (1998). "Neuronal and glial localization of GAT-1, a high-affinity gamma-aminobutyric acid plasma membrane transporter, in human cerebral cortex: with a note on its distribution in monkey cortex.". J. Comp. Neurol. 396 (1): 51-63. PMID 9623887.
• Beckman ML, Bernstein EM, Quick MW (1998). "Protein kinase C regulates the interaction between a GABA transporter and syntaxin 1A.". J. Neurosci. 18 (16): 6103-12. PMID 9698305.
• Augood SJ, Waldvogel HJ, Münkle MC, et al. (1999). "Localization of calcium-binding proteins and GABA transporter (GAT-1) messenger RNA in the human subthalamic nucleus.". Neuroscience 88 (2): 521-34. PMID 10197772.
• Ong WY, Yeo TT, Balcar VJ, Garey LJ (2000). "A light and electron microscopic study of GAT-1-positive cells in the cerebral cortex of man and monkey.". J. Neurocytol. 27 (10): 719-30. PMID 10640187.
• Deken SL, Beckman ML, Boos L, Quick MW (2000). "Transport rates of GABA transporters: regulation by the N-terminal domain and syntaxin 1A.". Nat. Neurosci. 3 (10): 998-1003. doi:10.1038/79939. PMID 11017172.
• Whitworth TL, Quick MW (2001). "Substrate-induced regulation of gamma-aminobutyric acid transporter trafficking requires tyrosine phosphorylation.". J. Biol. Chem. 276 (46): 42932-7. doi:10.1074/jbc.M107638200. PMID 11555659.
• Hachiya Y, Takashima S (2002). "Development of GABAergic neurons and their transporter in human temporal cortex.". Pediatr. Neurol. 25 (5): 390-6. PMID 11744314.
• Quick MW (2002). "Substrates regulate gamma-aminobutyric acid transporters in a syntaxin 1A-dependent manner.". Proc. Natl. Acad. Sci. U.S.A. 99 (8): 5686-91. doi:10.1073/pnas.082712899. PMID 11960023.
• Kanner BI (2003). "Transmembrane domain I of the gamma-aminobutyric acid transporter GAT-1 plays a crucial role in the transition between cation leak and transport modes.". J. Biol. Chem. 278 (6): 3705-12. doi:10.1074/jbc.M210525200. PMID 12446715.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932.
• Zomot E, Kanner BI (2003). "The interaction of the gamma-aminobutyric acid transporter GAT-1 with the neurotransmitter is selectively impaired by sulfhydryl modification of a conformationally sensitive cysteine residue engineered into extracellular loop IV.". J. Biol. Chem. 278 (44): 42950-8. doi:10.1074/jbc.M209307200. PMID 12925537.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039.
• Zhou Y, Bennett ER, Kanner BI (2004). "The aqueous accessibility in the external half of transmembrane domain I of the GABA transporter GAT-1 Is modulated by its ligands.". J. Biol. Chem. 279 (14): 13800-8. doi:10.1074/jbc.M311579200. PMID 14744863.
• Hu JH, Ma YH, Jiang J, et al. (2004). "Cognitive impairment in mice over-expressing gamma-aminobutyric acid transporter 1 (GAT1).". Neuroreport 15 (1): 9-12. PMID 15106822.
• Korkhov VM, Farhan H, Freissmuth M, Sitte HH (2005). "Oligomerization of the {gamma}-aminobutyric acid transporter-1 is driven by an interplay of polar and hydrophobic interactions in transmembrane helix II.". J. Biol. Chem. 279 (53): 55728-36. doi:10.1074/jbc.M409449200. PMID 15496410.

Template:Membrane-protein-stub This article incorporates text from the United States National Library of Medicine, which is in the public domain.