SC6A1_HUMAN
ID SC6A1_HUMAN Reviewed; 599 AA.
AC P30531; Q8N4K8;
DT 01-APR-1993, integrated into UniProtKB/Swiss-Prot.
DT 05-MAY-2009, sequence version 2.
DT 03-AUG-2022, entry version 185.
DE RecName: Full=Sodium- and chloride-dependent GABA transporter 1;
DE Short=GAT-1;
DE AltName: Full=Solute carrier family 6 member 1;
GN Name=SLC6A1; Synonyms=GABATR, GABT1, GAT1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=2387399; DOI=10.1016/0014-5793(90)81149-i;
RA Nelson H., Mandiyan S., Nelson N.;
RT "Cloning of the human brain GABA transporter.";
RL FEBS Lett. 269:181-184(1990).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT GLN-521.
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP INVOLVEMENT IN MAE, AND VARIANTS MAE GLN-44; VAL-288; ARG-297 AND PRO-334.
RX PubMed=25865495; DOI=10.1016/j.ajhg.2015.02.016;
RG EuroEPINOMICS Rare Epilepsy Syndrome Myoclonic-Astatic Epilepsy & Dravet working group;
RA Carvill G.L., McMahon J.M., Schneider A., Zemel M., Myers C.T.,
RA Saykally J., Nguyen J., Robbiano A., Zara F., Specchio N., Mecarelli O.,
RA Smith R.L., Leventer R.J., Moeller R.S., Nikanorova M., Dimova P.,
RA Jordanova A., Petrou S., Helbig I., Striano P., Weckhuysen S.,
RA Berkovic S.F., Scheffer I.E., Mefford H.C.;
RT "Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-
RT Atonic Seizures.";
RL Am. J. Hum. Genet. 96:808-815(2015).
RN [5]
RP VARIANTS GLU-94; ARG-235; CYS-445; 496-TRP--ILE-599 DEL AND ARG-550,
RP VARIANTS MAE SER-270 AND ILE-272 DEL, CHARACTERIZATION OF VARIANTS GLU-94;
RP ARG-235; CYS-445; 496-TRP--ILE-599 DEL AND ARG-550, CHARACTERIZATION OF
RP VARIANTS MAE SER-270 AND ILE-272 DEL, FUNCTION, AND TRANSPORTER ACTIVITY.
RX PubMed=30132828; DOI=10.1111/epi.14531;
RA Mattison K.A., Butler K.M., Inglis G.A.S., Dayan O., Boussidan H.,
RA Bhambhani V., Philbrook B., da Silva C., Alexander J.J., Kanner B.I.,
RA Escayg A.;
RT "SLC6A1 variants identified in epilepsy patients reduce gamma-aminobutyric
RT acid transport.";
RL Epilepsia 59:e135-e141(2018).
CC -!- FUNCTION: Mediates transport of gamma-aminobutyric acid (GABA) together
CC with sodium and chloride and is responsible for the reuptake of GABA
CC from the synapse (PubMed:30132828). The translocation of GABA, however,
CC may also occur in the reverse direction leading to the release of GABA
CC (By similarity). The direction and magnitude of GABA transport is a
CC consequence of the prevailing thermodynamic conditions, determined by
CC membrane potential and the intracellular and extracellular
CC concentrations of Na(+), Cl(-) and GABA (By similarity). Can also
CC mediate sodium- and chloride-dependent transport of hypotaurine but to
CC a much lower extent as compared to GABA (By similarity).
CC {ECO:0000250|UniProtKB:P23978, ECO:0000250|UniProtKB:P31648,
CC ECO:0000269|PubMed:30132828}.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=4-aminobutanoate(out) + chloride(out) + 2 Na(+)(out) = 4-
CC aminobutanoate(in) + chloride(in) + 2 Na(+)(in);
CC Xref=Rhea:RHEA:70687, ChEBI:CHEBI:17996, ChEBI:CHEBI:29101,
CC ChEBI:CHEBI:59888; Evidence={ECO:0000269|PubMed:30132828};
CC PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:70688;
CC Evidence={ECO:0000305|PubMed:30132828};
CC PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:70689;
CC Evidence={ECO:0000250|UniProtKB:P23978};
CC -!- CATALYTIC ACTIVITY:
CC Reaction=chloride(out) + hypotaurine(out) + 2 Na(+)(out) = chloride(in)
CC + hypotaurine(in) + 2 Na(+)(in); Xref=Rhea:RHEA:71243,
CC ChEBI:CHEBI:17996, ChEBI:CHEBI:29101, ChEBI:CHEBI:57853;
CC Evidence={ECO:0000250|UniProtKB:P31648};
CC PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:71244;
CC Evidence={ECO:0000250|UniProtKB:P31648};
CC -!- SUBUNIT: Interacts (via PDZ domain-binding motif) with PALS1;
CC interaction increases SLC6A1-mediated GABA uptake.
CC {ECO:0000250|UniProtKB:P31648}.
CC -!- INTERACTION:
CC P30531; O75031: HSF2BP; NbExp=3; IntAct=EBI-9071694, EBI-7116203;
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P23978};
CC Multi-pass membrane protein {ECO:0000255}. Presynapse
CC {ECO:0000250|UniProtKB:P31648}. Note=Localized at the presynaptic
CC terminals of interneurons. {ECO:0000250|UniProtKB:P31648}.
CC -!- DISEASE: Myoclonic-atonic epilepsy (MAE) [MIM:616421]: A form of
CC epilepsy characterized by myoclonic-atonic and absence seizures,
CC appearing in early childhood. Patients have delayed development before
CC the onset of seizures and show varying degrees of intellectual
CC disability following seizure onset. {ECO:0000269|PubMed:25865495,
CC ECO:0000269|PubMed:30132828}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: This protein is the target of psychomotor stimulants
CC such as amphetamines or cocaine.
CC -!- SIMILARITY: Belongs to the sodium:neurotransmitter symporter (SNF) (TC
CC 2.A.22) family. SLC6A1 subfamily. {ECO:0000305}.
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DR EMBL; X54673; CAA38484.1; -; mRNA.
DR EMBL; AC024910; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC033904; AAH33904.1; -; mRNA.
DR CCDS; CCDS2603.1; -.
DR PIR; S11073; S11073.
DR RefSeq; NP_001335179.1; NM_001348250.1.
DR RefSeq; NP_003033.3; NM_003042.3.
DR RefSeq; XP_005265467.1; XM_005265410.4.
DR RefSeq; XP_005265468.1; XM_005265411.4.
DR RefSeq; XP_011532327.1; XM_011534025.2.
DR RefSeq; XP_011532329.1; XM_011534027.2.
DR RefSeq; XP_016862560.1; XM_017007071.1.
DR RefSeq; XP_016862561.1; XM_017007072.1.
DR AlphaFoldDB; P30531; -.
DR SMR; P30531; -.
DR BioGRID; 112420; 36.
DR IntAct; P30531; 5.
DR MINT; P30531; -.
DR STRING; 9606.ENSP00000287766; -.
DR BindingDB; P30531; -.
DR ChEMBL; CHEMBL1903; -.
DR DrugBank; DB08848; Guvacine.
DR DrugBank; DB00906; Tiagabine.
DR DrugCentral; P30531; -.
DR GuidetoPHARMACOLOGY; 929; -.
DR TCDB; 2.A.22.3.2; the neurotransmitter:sodium symporter (nss) family.
DR GlyGen; P30531; 3 sites.
DR iPTMnet; P30531; -.
DR PhosphoSitePlus; P30531; -.
DR BioMuta; SLC6A1; -.
DR DMDM; 229462780; -.
DR MassIVE; P30531; -.
DR PaxDb; P30531; -.
DR PeptideAtlas; P30531; -.
DR PRIDE; P30531; -.
DR ProteomicsDB; 54714; -.
DR Antibodypedia; 1391; 270 antibodies from 33 providers.
DR DNASU; 6529; -.
DR Ensembl; ENST00000287766.10; ENSP00000287766.4; ENSG00000157103.12.
DR Ensembl; ENST00000642201.1; ENSP00000494778.1; ENSG00000157103.12.
DR Ensembl; ENST00000642515.1; ENSP00000496348.1; ENSG00000157103.12.
DR Ensembl; ENST00000642639.1; ENSP00000494191.1; ENSG00000157103.12.
DR Ensembl; ENST00000642735.1; ENSP00000494050.1; ENSG00000157103.12.
DR Ensembl; ENST00000642767.1; ENSP00000494346.1; ENSG00000157103.12.
DR Ensembl; ENST00000642820.1; ENSP00000495900.1; ENSG00000157103.12.
DR Ensembl; ENST00000643396.1; ENSP00000494136.1; ENSG00000157103.12.
DR Ensembl; ENST00000643498.1; ENSP00000494997.1; ENSG00000157103.12.
DR Ensembl; ENST00000645029.1; ENSP00000496171.1; ENSG00000157103.12.
DR Ensembl; ENST00000645054.1; ENSP00000495751.1; ENSG00000157103.12.
DR Ensembl; ENST00000645592.1; ENSP00000496619.1; ENSG00000157103.12.
DR Ensembl; ENST00000645974.1; ENSP00000496390.1; ENSG00000157103.12.
DR Ensembl; ENST00000646022.1; ENSP00000494134.1; ENSG00000157103.12.
DR Ensembl; ENST00000646060.1; ENSP00000496302.1; ENSG00000157103.12.
DR Ensembl; ENST00000646570.1; ENSP00000496064.1; ENSG00000157103.12.
DR Ensembl; ENST00000646702.1; ENSP00000496697.1; ENSG00000157103.12.
DR Ensembl; ENST00000646924.1; ENSP00000493591.1; ENSG00000157103.12.
DR Ensembl; ENST00000647194.1; ENSP00000496238.1; ENSG00000157103.12.
DR GeneID; 6529; -.
DR KEGG; hsa:6529; -.
DR MANE-Select; ENST00000287766.10; ENSP00000287766.4; NM_003042.4; NP_003033.3.
DR UCSC; uc010hdq.4; human.
DR CTD; 6529; -.
DR DisGeNET; 6529; -.
DR GeneCards; SLC6A1; -.
DR HGNC; HGNC:11042; SLC6A1.
DR HPA; ENSG00000157103; Tissue enhanced (brain, liver, retina).
DR MalaCards; SLC6A1; -.
DR MIM; 137165; gene.
DR MIM; 616421; phenotype.
DR neXtProt; NX_P30531; -.
DR OpenTargets; ENSG00000157103; -.
DR Orphanet; 1942; Myoclonic-astatic epilepsy.
DR PharmGKB; PA309; -.
DR VEuPathDB; HostDB:ENSG00000157103; -.
DR eggNOG; KOG3660; Eukaryota.
DR GeneTree; ENSGT00940000156027; -.
DR HOGENOM; CLU_006855_9_5_1; -.
DR InParanoid; P30531; -.
DR OMA; GMATFIF; -.
DR OrthoDB; 250396at2759; -.
DR PhylomeDB; P30531; -.
DR TreeFam; TF343812; -.
DR PathwayCommons; P30531; -.
DR Reactome; R-HSA-442660; Na+/Cl- dependent neurotransmitter transporters.
DR Reactome; R-HSA-888593; Reuptake of GABA.
DR SABIO-RK; P30531; -.
DR SignaLink; P30531; -.
DR SIGNOR; P30531; -.
DR BioGRID-ORCS; 6529; 7 hits in 1071 CRISPR screens.
DR ChiTaRS; SLC6A1; human.
DR GeneWiki; GABA_transporter_1; -.
DR GenomeRNAi; 6529; -.
DR Pharos; P30531; Tclin.
DR PRO; PR:P30531; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; P30531; protein.
DR Bgee; ENSG00000157103; Expressed in lateral nuclear group of thalamus and 138 other tissues.
DR ExpressionAtlas; P30531; baseline and differential.
DR Genevisible; P30531; HS.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR GO; GO:0030424; C:axon; ISS:ARUK-UCL.
DR GO; GO:0009986; C:cell surface; IBA:GO_Central.
DR GO; GO:0098982; C:GABA-ergic synapse; IEA:Ensembl.
DR GO; GO:0016021; C:integral component of membrane; TAS:ProtInc.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0099055; C:integral component of postsynaptic membrane; IEA:Ensembl.
DR GO; GO:0099056; C:integral component of presynaptic membrane; IEA:Ensembl.
DR GO; GO:0016020; C:membrane; TAS:ProtInc.
DR GO; GO:0043005; C:neuron projection; IBA:GO_Central.
DR GO; GO:0043025; C:neuronal cell body; ISS:ARUK-UCL.
DR GO; GO:0005886; C:plasma membrane; IDA:ARUK-UCL.
DR GO; GO:0015185; F:gamma-aminobutyric acid transmembrane transporter activity; ISS:ARUK-UCL.
DR GO; GO:0005332; F:gamma-aminobutyric acid:sodium symporter activity; IDA:ARUK-UCL.
DR GO; GO:0042802; F:identical protein binding; IEA:Ensembl.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0015378; F:sodium:chloride symporter activity; IDA:ARUK-UCL.
DR GO; GO:0008306; P:associative learning; ISS:ARUK-UCL.
DR GO; GO:0007268; P:chemical synaptic transmission; TAS:ProtInc.
DR GO; GO:1902476; P:chloride transmembrane transport; IDA:ARUK-UCL.
DR GO; GO:0051939; P:gamma-aminobutyric acid import; IDA:ARUK-UCL.
DR GO; GO:0051936; P:gamma-aminobutyric acid reuptake; TAS:Reactome.
DR GO; GO:0098658; P:inorganic anion import across plasma membrane; IDA:ARUK-UCL.
DR GO; GO:0007613; P:memory; ISS:ARUK-UCL.
DR GO; GO:0032229; P:negative regulation of synaptic transmission, GABAergic; IEA:Ensembl.
DR GO; GO:0014054; P:positive regulation of gamma-aminobutyric acid secretion; IEA:Ensembl.
DR GO; GO:0051592; P:response to calcium ion; IEA:Ensembl.
DR GO; GO:0042220; P:response to cocaine; IEA:Ensembl.
DR GO; GO:0032355; P:response to estradiol; IEA:Ensembl.
DR GO; GO:0010035; P:response to inorganic substance; IDA:ARUK-UCL.
DR GO; GO:0010288; P:response to lead ion; IEA:Ensembl.
DR GO; GO:0014074; P:response to purine-containing compound; IEA:Ensembl.
DR GO; GO:0009744; P:response to sucrose; IEA:Ensembl.
DR GO; GO:0009636; P:response to toxic substance; IEA:Ensembl.
DR GO; GO:0098719; P:sodium ion import across plasma membrane; IDA:ARUK-UCL.
DR GO; GO:0035725; P:sodium ion transmembrane transport; IBA:GO_Central.
DR GO; GO:0050808; P:synapse organization; ISS:ARUK-UCL.
DR GO; GO:0150104; P:transport across blood-brain barrier; NAS:ARUK-UCL.
DR CDD; cd11506; SLC6sbd_GAT1; 1.
DR InterPro; IPR000175; Na/ntran_symport.
DR InterPro; IPR002980; Na/ntran_symport_GABA_GAT1.
DR InterPro; IPR037272; SNS_sf.
DR PANTHER; PTHR11616; PTHR11616; 1.
DR Pfam; PF00209; SNF; 1.
DR PRINTS; PR01195; GAT1TRNSPORT.
DR PRINTS; PR00176; NANEUSMPORT.
DR SUPFAM; SSF161070; SSF161070; 1.
DR PROSITE; PS00610; NA_NEUROTRAN_SYMP_1; 1.
DR PROSITE; PS00754; NA_NEUROTRAN_SYMP_2; 1.
DR PROSITE; PS50267; NA_NEUROTRAN_SYMP_3; 1.
PE 1: Evidence at protein level;
KW Cell membrane; Cell projection; Disease variant; Disulfide bond; Epilepsy;
KW Glycoprotein; Membrane; Metal-binding; Neurotransmitter transport;
KW Phosphoprotein; Reference proteome; Sodium; Symport; Synapse;
KW Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..599
FT /note="Sodium- and chloride-dependent GABA transporter 1"
FT /id="PRO_0000214743"
FT TOPO_DOM 1..52
FT /note="Cytoplasmic"
FT /evidence="ECO:0000250|UniProtKB:P23978"
FT TRANSMEM 53..73
FT /note="Helical; Name=1"
FT /evidence="ECO:0000255"
FT TOPO_DOM 74..80
FT /note="Extracellular"
FT /evidence="ECO:0000250|UniProtKB:P23978"
FT TRANSMEM 81..100
FT /note="Helical; Name=2"
FT /evidence="ECO:0000255"
FT TOPO_DOM 101..123
FT /note="Cytoplasmic"
FT /evidence="ECO:0000250|UniProtKB:P23978"
FT TRANSMEM 124..144
FT /note="Helical; Name=3"
FT /evidence="ECO:0000255"
FT TOPO_DOM 145..211
FT /note="Extracellular"
FT /evidence="ECO:0000250|UniProtKB:P23978"
FT TRANSMEM 212..230
FT /note="Helical; Name=4"
FT /evidence="ECO:0000255"
FT TOPO_DOM 231..238
FT /note="Cytoplasmic"
FT /evidence="ECO:0000250|UniProtKB:P23978"
FT TRANSMEM 239..256
FT /note="Helical; Name=5"
FT /evidence="ECO:0000255"
FT TOPO_DOM 257..291
FT /note="Extracellular"
FT /evidence="ECO:0000250|UniProtKB:P23978"
FT TRANSMEM 292..309
FT /note="Helical; Name=6"
FT /evidence="ECO:0000255"
FT TOPO_DOM 310..320
FT /note="Cytoplasmic"
FT /evidence="ECO:0000250|UniProtKB:P23978"
FT TRANSMEM 321..342
FT /note="Helical; Name=7"
FT /evidence="ECO:0000255"
FT TOPO_DOM 343..374
FT /note="Extracellular"
FT /evidence="ECO:0000250|UniProtKB:P23978"
FT TRANSMEM 375..394
FT /note="Helical; Name=8"
FT /evidence="ECO:0000255"
FT TOPO_DOM 395..421
FT /note="Cytoplasmic"
FT /evidence="ECO:0000250|UniProtKB:P23978"
FT TRANSMEM 422..440
FT /note="Helical; Name=9"
FT /evidence="ECO:0000255"
FT TOPO_DOM 441..456
FT /note="Extracellular"
FT /evidence="ECO:0000250|UniProtKB:P23978"
FT TRANSMEM 457..477
FT /note="Helical; Name=10"
FT /evidence="ECO:0000255"
FT TOPO_DOM 478..497
FT /note="Cytoplasmic"
FT /evidence="ECO:0000250|UniProtKB:P23978"
FT TRANSMEM 498..517
FT /note="Helical; Name=11"
FT /evidence="ECO:0000255"
FT TOPO_DOM 518..535
FT /note="Extracellular"
FT /evidence="ECO:0000250|UniProtKB:P23978"
FT TRANSMEM 536..554
FT /note="Helical; Name=12"
FT /evidence="ECO:0000255"
FT TOPO_DOM 555..599
FT /note="Cytoplasmic"
FT /evidence="ECO:0000250|UniProtKB:P23978"
FT REGION 577..599
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 597..599
FT /note="PDZ-binding"
FT COMPBIAS 585..599
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 59
FT /ligand="Na(+)"
FT /ligand_id="ChEBI:CHEBI:29101"
FT /ligand_label="1"
FT /evidence="ECO:0000250|UniProtKB:Q7K4Y6"
FT BINDING 61
FT /ligand="Na(+)"
FT /ligand_id="ChEBI:CHEBI:29101"
FT /ligand_label="2"
FT /evidence="ECO:0000250|UniProtKB:Q7K4Y6"
FT BINDING 62
FT /ligand="Na(+)"
FT /ligand_id="ChEBI:CHEBI:29101"
FT /ligand_label="1"
FT /evidence="ECO:0000250|UniProtKB:Q7K4Y6"
FT BINDING 66
FT /ligand="Na(+)"
FT /ligand_id="ChEBI:CHEBI:29101"
FT /ligand_label="2"
FT /evidence="ECO:0000250|UniProtKB:Q7K4Y6"
FT BINDING 295
FT /ligand="Na(+)"
FT /ligand_id="ChEBI:CHEBI:29101"
FT /ligand_label="2"
FT /evidence="ECO:0000250|UniProtKB:Q7K4Y6"
FT BINDING 327
FT /ligand="Na(+)"
FT /ligand_id="ChEBI:CHEBI:29101"
FT /ligand_label="2"
FT /evidence="ECO:0000250|UniProtKB:Q7K4Y6"
FT BINDING 392
FT /ligand="Na(+)"
FT /ligand_id="ChEBI:CHEBI:29101"
FT /ligand_label="1"
FT /evidence="ECO:0000250|UniProtKB:Q7K4Y6"
FT BINDING 395
FT /ligand="Na(+)"
FT /ligand_id="ChEBI:CHEBI:29101"
FT /ligand_label="1"
FT /evidence="ECO:0000250|UniProtKB:Q7K4Y6"
FT BINDING 396
FT /ligand="Na(+)"
FT /ligand_id="ChEBI:CHEBI:29101"
FT /ligand_label="1"
FT /evidence="ECO:0000250|UniProtKB:Q7K4Y6"
FT MOD_RES 18
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P31648"
FT MOD_RES 591
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P31648"
FT CARBOHYD 176
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 181
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 184
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 164..173
FT /evidence="ECO:0000250|UniProtKB:Q7K4Y6"
FT VARIANT 44
FT /note="R -> Q (in MAE; dbSNP:rs794726859)"
FT /evidence="ECO:0000269|PubMed:25865495"
FT /id="VAR_073852"
FT VARIANT 94
FT /note="G -> E (complete loss of GABA transporter activity)"
FT /evidence="ECO:0000269|PubMed:30132828"
FT /id="VAR_086249"
FT VARIANT 235
FT /note="W -> R (found in a patient with intractable absence
FT epilepsy; unknown pathological significance; retains about
FT 27% of wild-type GABA transporter activity)"
FT /evidence="ECO:0000269|PubMed:30132828"
FT /id="VAR_086250"
FT VARIANT 270
FT /note="F -> S (in MAE; unknown pathological significance;
FT retains about 2% of wild-type GABA transporter activity)"
FT /evidence="ECO:0000269|PubMed:30132828"
FT /id="VAR_086251"
FT VARIANT 272
FT /note="Missing (in MAE; unknown pathological significance;
FT retains about 13% of wild-type GABA transporter activity)"
FT /evidence="ECO:0000269|PubMed:30132828"
FT /id="VAR_086252"
FT VARIANT 288
FT /note="A -> V (in MAE; dbSNP:rs794726860)"
FT /evidence="ECO:0000269|PubMed:25865495"
FT /id="VAR_073853"
FT VARIANT 297
FT /note="G -> R (in MAE; dbSNP:rs876657400)"
FT /evidence="ECO:0000269|PubMed:25865495"
FT /id="VAR_073854"
FT VARIANT 334
FT /note="A -> P (in MAE; dbSNP:rs749240316)"
FT /evidence="ECO:0000269|PubMed:25865495"
FT /id="VAR_073855"
FT VARIANT 445
FT /note="Y -> C (found in a patient with generalized
FT epilepsy; unknown pathological significance; retains about
FT 6% of wild-type GABA transporter activity)"
FT /evidence="ECO:0000269|PubMed:30132828"
FT /id="VAR_086253"
FT VARIANT 496..599
FT /note="Missing (found in a patient with generalized
FT epilepsy; unknown pathological significance; complete loss
FT of GABA transporter activity)"
FT /evidence="ECO:0000269|PubMed:30132828"
FT /id="VAR_086254"
FT VARIANT 521
FT /note="P -> Q (in dbSNP:rs17855574)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_055088"
FT VARIANT 550
FT /note="G -> R (found in a patient with generalized
FT epilepsy; unknown pathological significance; complete loss
FT of GABA transporter activity)"
FT /evidence="ECO:0000269|PubMed:30132828"
FT /id="VAR_086255"
FT CONFLICT 558
FT /note="T -> A (in Ref. 1; CAA38484)"
FT /evidence="ECO:0000305"
FT CONFLICT 577
FT /note="I -> T (in Ref. 1; CAA38484)"
FT /evidence="ECO:0000305"
FT CONFLICT 586..587
FT /note="QP -> HA (in Ref. 1; CAA38484)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 599 AA; 67074 MW; 094DB39C1D3B75D2 CRC64;
MATNGSKVAD GQISTEVSEA PVANDKPKTL VVKVQKKAAD LPDRDTWKGR FDFLMSCVGY
AIGLGNVWRF PYLCGKNGGG AFLIPYFLTL IFAGVPLFLL ECSLGQYTSI GGLGVWKLAP
MFKGVGLAAA VLSFWLNIYY IVIISWAIYY LYNSFTTTLP WKQCDNPWNT DRCFSNYSMV
NTTNMTSAVV EFWERNMHQM TDGLDKPGQI RWPLAITLAI AWILVYFCIW KGVGWTGKVV
YFSATYPYIM LIILFFRGVT LPGAKEGILF YITPNFRKLS DSEVWLDAAT QIFFSYGLGL
GSLIALGSYN SFHNNVYRDS IIVCCINSCT SMFAGFVIFS IVGFMAHVTK RSIADVAASG
PGLAFLAYPE AVTQLPISPL WAILFFSMLL MLGIDSQFCT VEGFITALVD EYPRLLRNRR
ELFIAAVCII SYLIGLSNIT QGGIYVFKLF DYYSASGMSL LFLVFFECVS ISWFYGVNRF
YDNIQEMVGS RPCIWWKLCW SFFTPIIVAG VFIFSAVQMT PLTMGNYVFP KWGQGVGWLM
ALSSMVLIPG YMAYMFLTLK GSLKQRIQVM VQPSEDIVRP ENGPEQPQAG SSTSKEAYI
