Sodium- and chloride-dependent GABA transporter 1

Details

Name
Sodium- and chloride-dependent GABA transporter 1
Kind
protein
Synonyms
  • GABATR
  • GABT1
  • GAT-1
  • GAT1
  • Solute carrier family 6 member 1
Gene Name
SLC6A1
UniProtKB Entry
P30531Swiss-Prot
Organism
Humans
NCBI Taxonomy ID
9606
Amino acid sequence
>lcl|BSEQ0010219|Sodium- and chloride-dependent GABA transporter 1
MATNGSKVADGQISTEVSEAPVANDKPKTLVVKVQKKAADLPDRDTWKGRFDFLMSCVGY
AIGLGNVWRFPYLCGKNGGGAFLIPYFLTLIFAGVPLFLLECSLGQYTSIGGLGVWKLAP
MFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLPWKQCDNPWNTDRCFSNYSMV
NTTNMTSAVVEFWERNMHQMTDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVV
YFSATYPYIMLIILFFRGVTLPGAKEGILFYITPNFRKLSDSEVWLDAATQIFFSYGLGL
GSLIALGSYNSFHNNVYRDSIIVCCINSCTSMFAGFVIFSIVGFMAHVTKRSIADVAASG
PGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCTVEGFITALVDEYPRLLRNRR
ELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRF
YDNIQEMVGSRPCIWWKLCWSFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLM
ALSSMVLIPGYMAYMFLTLKGSLKQRIQVMVQPSEDIVRPENGPEQPQAGSSTSKEAYI
Number of residues
599
Molecular Weight
67073.0
Theoretical pI
8.16
GO Classification
Functions
gamma-aminobutyric acid
Processes
gamma-aminobutyric acid import / negative regulation of synaptic transmission, GABAergic / positive regulation of gamma-aminobutyric acid secretion / response to calcium ion / response to cocaine / response to estradiol / response to lead ion / response to purine-containing compound / response to sucrose / response to toxic substance
Components
axon / cell surface / membrane / plasma membrane
General Function
Mediates transport of gamma-aminobutyric acid (GABA) together with sodium and chloride and is responsible for the reuptake of GABA from the synapse (PubMed:30132828). The translocation of GABA, however, may also occur in the reverse direction leading to the release of GABA (By similarity). The direction and magnitude of GABA transport is a consequence of the prevailing thermodynamic conditions, determined by membrane potential and the intracellular and extracellular concentrations of Na(+), Cl(-) and GABA (By similarity). Can also mediate sodium- and chloride-dependent transport of hypotaurine but to a much lower extent as compared to GABA (By similarity)
Specific Function
gamma-aminobutyric acid transmembrane transporter activity
Pfam Domain Function
Signal Regions
Not Available
Transmembrane Regions
53-73 81-100 124-144 212-230 239-256 292-309 321-342 375-394 422-440 457-477 498-517 536-554
Cellular Location
Cell membrane
Gene sequence
>lcl|BSEQ0010220|Sodium- and chloride-dependent GABA transporter 1 (SLC6A1)
ATGGCGACCAACGGCAGCAAGGTGGCCGACGGGCAGATCTCCACCGAGGTCAGCGAGGCC
CCTGTGGCCAATGACAAGCCCAAAACCTTGGTGGTCAAGGTGCAGAAGAAGGCGGCAGAC
CTCCCCGACCGGGACACGTGGAAGGGCCGCTTCGACTTCCTCATGTCCTGTGTGGGCTAT
GCCATCGGCCTGGGCAACGTCTGGAGGTTCCCCTATCTCTGCGGGAAAAATGGTGGGGGA
GCCTTCCTGATCCCCTATTTCCTGACACTCATCTTTGCGGGGGTCCCACTCTTCCTGCTG
GAGTGCTCCCTGGGCCAGTACACCTCCATCGGGGGGCTAGGGGTATGGAAGCTGGCTCCT
ATGTTCAAGGGCGTGGGCCTTGCGGCTGCTGTGCTATCATTCTGGCTGAACATCTACTAC
ATCGTCATCATCTCCTGGGCCATTTACTACCTGTACAACTCCTTCACCACGACACTGCCG
TGGAAACAGTGCGACAACCCCTGGAACACAGACCGCTGCTTCTCCAACTACAGCATGGTC
AACACTACCAACATGACCAGCGCTGTGGTGGAGTTCTGGGAGCGCAACATGCATCAGATG
ACGGACGGGCTGGATAAGCCAGGTCAGATCCGCTGGCCACTGGCCATCACGCTGGCCATC
GCCTGGATCCTTGTGTATTTCTGTATCTGGAAGGGTGTTGGCTGGACTGGAAAGGTGGTC
TACTTTTCAGCCACATACCCCTACATCATGCTGATCATCCTGTTCTTCCGTGGAGTGACG
CTGCCCGGGGCCAAGGAGGGCATCCTCTTCTACATCACACCCAACTTCCGCAAGCTGTCT
GACTCCGAGGTGTGGCTGGATGCGGCAACCCAGATCTTCTTCTCATACGGGCTGGGCCTG
GGGTCCCTGATCGCTCTCGGGAGCTACAACTCTTTCCACAACAATGTCTACAGGGACTCC
ATCATCGTCTGCTGCATCAATTCGTGCACCAGCATGTTCGCAGGATTCGTCATCTTCTCC
ATCGTGGGCTTCATGGCCCATGTCACCAAGAGGTCCATTGCTGATGTGGCGGCCTCAGGC
CCCGGGCTGGCGTTCCTGGCATACCCAGAGGCGGTGACCCAGCTGCCTATCTCCCCACTC
TGGGCCATCCTCTTCTTCTCCATGCTGTTGATGCTGGGCATTGACAGCCAGTTCTGCACT
GTGGAGGGCTTCATCACAGCCCTGGTGGATGAGTACCCCAGGCTCCTCCGCAACCGCAGA
GAGCTCTTCATTGCTGCTGTCTGCATCATCTCCTACCTGATCGGTCTCTCTAACATCACT
CAGGGGGGTATTTATGTCTTCAAACTCTTTGACTACTACTCTGCCAGTGGCATGAGCCTG
CTGTTCCTCGTGTTCTTTGAATGTGTCTCTATTTCCTGGTTTTACGGTGTCAACCGATTC
TATGACAATATCCAAGAGATGGTTGGATCCAGGCCCTGCATCTGGTGGAAACTCTGCTGG
TCTTTCTTCACACCAATCATTGTGGCGGGCGTGTTCATTTTCAGTGCTGTGCAGATGACG
CCACTCACCATGGGAAACTATGTTTTCCCCAAGTGGGGCCAGGGTGTGGGCTGGCTGATG
GCTCTGTCTTCCATGGTCCTCATCCCCGGGTACATGGCCTACATGTTCCTCACCTTAAAG
GGCTCCCTGAAGCAGCGCATCCAAGTCATGGTCCAGCCCAGCGAAGACATCGTTCGCCCA
GAGAATGGTCCTGAGCAGCCCCAGGCGGGCAGCTCCACCAGCAAGGAGGCCTACATCTAG
Chromosome Location
3
Locus
3p25.3
External Identifiers
ResourceLink
UniProtKB IDP30531
UniProtKB Entry NameSC6A1_HUMAN
GenBank Protein ID31658
GenBank Gene IDX54673
GeneCard IDSLC6A1
GenAtlas IDSLC6A1
HGNC IDHGNC:11042
PDB ID(s)7SK2, 7Y7V, 7Y7W, 7Y7Y, 7Y7Z
KEGG IDhsa:6529
IUPHAR/Guide To Pharmacology ID929
NCBI Gene ID6529
General References
  1. Nelson H, Mandiyan S, Nelson N: Cloning of the human brain GABA transporter. FEBS Lett. 1990 Aug 20;269(1):181-4. [Article]
  2. Muzny DM, Scherer SE, Kaul R, Wang J, Yu J, Sudbrak R, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A, Miner GR, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Wei S, Wheeler DA, Wright MW, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z, Clendenning J, Clerc-Blankenburg KP, Chen R, Chen Z, Davis C, Delgado O, Dinh HH, Dong W, Draper H, Ernst S, Fu G, Gonzalez-Garay ML, Garcia DK, Gillett W, Gu J, Hao B, Haugen E, Havlak P, He X, Hennig S, Hu S, Huang W, Jackson LR, Jacob LS, Kelly SH, Kube M, Levy R, Li Z, Liu B, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV, Okwuonu GO, Palmeiri A, Pasternak S, Perez LM, Phelps KA, Plopper FJ, Qiang B, Raymond C, Rodriguez R, Saenphimmachak C, Santibanez J, Shen H, Shen Y, Subramanian S, Tabor PE, Verduzco D, Waldron L, Wang J, Wang J, Wang Q, Williams GA, Wong GK, Yao Z, Zhang J, Zhang X, Zhao G, Zhou J, Zhou Y, Nelson D, Lehrach H, Reinhardt R, Naylor SL, Yang H, Olson M, Weinstock G, Gibbs RA: The DNA sequence, annotation and analysis of human chromosome 3. Nature. 2006 Apr 27;440(7088):1194-8. [Article]
  3. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [Article]
  4. Carvill GL, McMahon JM, Schneider A, Zemel M, Myers CT, Saykally J, Nguyen J, Robbiano A, Zara F, Specchio N, Mecarelli O, Smith RL, Leventer RJ, Moller RS, Nikanorova M, Dimova P, Jordanova A, Petrou S, Helbig I, Striano P, Weckhuysen S, Berkovic SF, Scheffer IE, Mefford HC: Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. Am J Hum Genet. 2015 May 7;96(5):808-15. doi: 10.1016/j.ajhg.2015.02.016. Epub 2015 Apr 9. [Article]

Associated Data

Drug Relations
DrugDrug groupPharmacological action?TypeActionsDetails
Tiagabineapproved, investigationalyestargetinhibitorDetails
GuvacineexperimentalunknowntargetinhibitorDetails
Nipecotic acidexperimentalyestargetinhibitorDetails
gamma-Aminobutyric acidapproved, investigationalyestargetinhibitorDetails
MetadoxineexperimentalyestargetmodulatorDetails