Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Sodium- and chloride-dependent GABA transporter 1

Gene

SLC6A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals.

Miscellaneous

This protein is the target of psychomotor stimulants such as amphetamines or cocaine.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi59Sodium 1; via carbonyl oxygenBy similarity1
Metal bindingi61Sodium 2; via carbonyl oxygenBy similarity1
Metal bindingi62Sodium 1; via carbonyl oxygenBy similarity1
Metal bindingi66Sodium 2By similarity1
Metal bindingi295Sodium 2By similarity1
Metal bindingi327Sodium 2By similarity1
Metal bindingi392Sodium 1; via carbonyl oxygenBy similarity1
Metal bindingi395Sodium 1By similarity1
Metal bindingi396Sodium 1By similarity1

GO - Molecular functioni

GO - Biological processi

  • chemical synaptic transmission Source: ProtInc
  • gamma-aminobutyric acid transport Source: GO_Central

Keywordsi

Biological processNeurotransmitter transport, Symport, Transport
LigandMetal-binding, Sodium

Enzyme and pathway databases

ReactomeiR-HSA-442660 Na+/Cl- dependent neurotransmitter transporters
R-HSA-888593 Reuptake of GABA
SABIO-RKP30531
SIGNORiP30531

Protein family/group databases

TCDBi2.A.22.3.2 the neurotransmitter:sodium symporter (nss) family

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium- and chloride-dependent GABA transporter 1
Short name:
GAT-1
Alternative name(s):
Solute carrier family 6 member 1
Gene namesi
Name:SLC6A1
Synonyms:GABATR, GABT1, GAT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000157103.10
HGNCiHGNC:11042 SLC6A1
MIMi137165 gene
neXtProtiNX_P30531

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 52CytoplasmicSequence analysisAdd BLAST52
Transmembranei53 – 73Helical; Name=1Sequence analysisAdd BLAST21
Transmembranei81 – 100Helical; Name=2Sequence analysisAdd BLAST20
Transmembranei124 – 144Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini145 – 211ExtracellularSequence analysisAdd BLAST67
Transmembranei212 – 230Helical; Name=4Sequence analysisAdd BLAST19
Transmembranei239 – 256Helical; Name=5Sequence analysisAdd BLAST18
Transmembranei292 – 309Helical; Name=6Sequence analysisAdd BLAST18
Transmembranei321 – 342Helical; Name=7Sequence analysisAdd BLAST22
Transmembranei375 – 394Helical; Name=8Sequence analysisAdd BLAST20
Transmembranei422 – 440Helical; Name=9Sequence analysisAdd BLAST19
Transmembranei457 – 477Helical; Name=10Sequence analysisAdd BLAST21
Transmembranei498 – 517Helical; Name=11Sequence analysisAdd BLAST20
Transmembranei536 – 554Helical; Name=12Sequence analysisAdd BLAST19
Topological domaini555 – 599CytoplasmicSequence analysisAdd BLAST45

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Myoclonic-atonic epilepsy (MAE)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epilepsy characterized by myoclonic-atonic and absence seizures, appearing in early childhood. Patients have delayed development before the onset of seizures and show varying degrees of intellectual disability following seizure onset.
See also OMIM:616421
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07385244R → Q in MAE. 1 PublicationCorresponds to variant dbSNP:rs794726859EnsemblClinVar.1
Natural variantiVAR_073853288A → V in MAE. 1 PublicationCorresponds to variant dbSNP:rs794726860EnsemblClinVar.1
Natural variantiVAR_073854297G → R in MAE. 1 PublicationCorresponds to variant dbSNP:rs876657400EnsemblClinVar.1
Natural variantiVAR_073855334A → P in MAE. 1 PublicationCorresponds to variant dbSNP:rs749240316EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi6529
MalaCardsiSLC6A1
MIMi616421 phenotype
OpenTargetsiENSG00000157103
PharmGKBiPA309

Chemistry databases

ChEMBLiCHEMBL1903
DrugBankiDB00349 Clobazam
DB08848 Guvacine
DB00906 Tiagabine
GuidetoPHARMACOLOGYi929

Polymorphism and mutation databases

BioMutaiSLC6A1
DMDMi229462780

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002147431 – 599Sodium- and chloride-dependent GABA transporter 1Add BLAST599

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei18PhosphoserineBy similarity1
Disulfide bondi164 ↔ 173By similarity
Glycosylationi176N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi181N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi184N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei591PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiP30531
PeptideAtlasiP30531
PRIDEiP30531

PTM databases

iPTMnetiP30531
PhosphoSitePlusiP30531

Expressioni

Gene expression databases

BgeeiENSG00000157103
CleanExiHS_SLC6A1
ExpressionAtlasiP30531 baseline and differential
GenevisibleiP30531 HS

Organism-specific databases

HPAiCAB022293
HPA013341

Interactioni

Subunit structurei

Interacts with MPP5.By similarity

Protein-protein interaction databases

BioGridi112420, 19 interactors
IntActiP30531, 2 interactors
STRINGi9606.ENSP00000287766

Chemistry databases

BindingDBiP30531

Structurei

3D structure databases

ProteinModelPortaliP30531
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi597 – 599PDZ-binding3

Domaini

The PDZ domain-binding motif is involved in the interaction with MPP5.

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3659 Eukaryota
COG0733 LUCA
GeneTreeiENSGT00760000118857
HOGENOMiHOG000116406
HOVERGENiHBG071421
InParanoidiP30531
KOiK05034
OMAiESEVWID
OrthoDBiEOG091G08PX
PhylomeDBiP30531
TreeFamiTF343812

Family and domain databases

CDDicd11506 SLC6sbd_GAT1, 1 hit
InterProiView protein in InterPro
IPR000175 Na/ntran_symport
IPR002980 Na/ntran_symport_GABA_GAT1
IPR037272 SNS_sf
PANTHERiPTHR11616 PTHR11616, 1 hit
PfamiView protein in Pfam
PF00209 SNF, 1 hit
PRINTSiPR01195 GAT1TRNSPORT
PR00176 NANEUSMPORT
SUPFAMiSSF161070 SSF161070, 1 hit
PROSITEiView protein in PROSITE
PS00610 NA_NEUROTRAN_SYMP_1, 1 hit
PS00754 NA_NEUROTRAN_SYMP_2, 1 hit
PS50267 NA_NEUROTRAN_SYMP_3, 1 hit

Sequencei

Sequence statusi: Complete.

P30531-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MATNGSKVAD GQISTEVSEA PVANDKPKTL VVKVQKKAAD LPDRDTWKGR
60 70 80 90 100
FDFLMSCVGY AIGLGNVWRF PYLCGKNGGG AFLIPYFLTL IFAGVPLFLL
110 120 130 140 150
ECSLGQYTSI GGLGVWKLAP MFKGVGLAAA VLSFWLNIYY IVIISWAIYY
160 170 180 190 200
LYNSFTTTLP WKQCDNPWNT DRCFSNYSMV NTTNMTSAVV EFWERNMHQM
210 220 230 240 250
TDGLDKPGQI RWPLAITLAI AWILVYFCIW KGVGWTGKVV YFSATYPYIM
260 270 280 290 300
LIILFFRGVT LPGAKEGILF YITPNFRKLS DSEVWLDAAT QIFFSYGLGL
310 320 330 340 350
GSLIALGSYN SFHNNVYRDS IIVCCINSCT SMFAGFVIFS IVGFMAHVTK
360 370 380 390 400
RSIADVAASG PGLAFLAYPE AVTQLPISPL WAILFFSMLL MLGIDSQFCT
410 420 430 440 450
VEGFITALVD EYPRLLRNRR ELFIAAVCII SYLIGLSNIT QGGIYVFKLF
460 470 480 490 500
DYYSASGMSL LFLVFFECVS ISWFYGVNRF YDNIQEMVGS RPCIWWKLCW
510 520 530 540 550
SFFTPIIVAG VFIFSAVQMT PLTMGNYVFP KWGQGVGWLM ALSSMVLIPG
560 570 580 590
YMAYMFLTLK GSLKQRIQVM VQPSEDIVRP ENGPEQPQAG SSTSKEAYI
Length:599
Mass (Da):67,074
Last modified:May 5, 2009 - v2
Checksum:i094DB39C1D3B75D2
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti558T → A in CAA38484 (PubMed:2387399).Curated1
Sequence conflicti577I → T in CAA38484 (PubMed:2387399).Curated1
Sequence conflicti586 – 587QP → HA in CAA38484 (PubMed:2387399).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07385244R → Q in MAE. 1 PublicationCorresponds to variant dbSNP:rs794726859EnsemblClinVar.1
Natural variantiVAR_073853288A → V in MAE. 1 PublicationCorresponds to variant dbSNP:rs794726860EnsemblClinVar.1
Natural variantiVAR_073854297G → R in MAE. 1 PublicationCorresponds to variant dbSNP:rs876657400EnsemblClinVar.1
Natural variantiVAR_073855334A → P in MAE. 1 PublicationCorresponds to variant dbSNP:rs749240316EnsemblClinVar.1
Natural variantiVAR_055088521P → Q1 PublicationCorresponds to variant dbSNP:rs17855574Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X54673 mRNA Translation: CAA38484.1
AC024910 Genomic DNA No translation available.
BC033904 mRNA Translation: AAH33904.1
CCDSiCCDS2603.1
PIRiS11073
RefSeqiNP_001335179.1, NM_001348250.1
NP_003033.3, NM_003042.3
XP_005265467.1, XM_005265410.4
XP_005265468.1, XM_005265411.4
XP_011532327.1, XM_011534025.2
XP_011532329.1, XM_011534027.2
XP_016862560.1, XM_017007071.1
XP_016862561.1, XM_017007072.1
UniGeneiHs.443874

Genome annotation databases

EnsembliENST00000287766; ENSP00000287766; ENSG00000157103
GeneIDi6529
KEGGihsa:6529
UCSCiuc010hdq.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSC6A1_HUMAN
AccessioniPrimary (citable) accession number: P30531
Secondary accession number(s): Q8N4K8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: May 5, 2009
Last modified: April 25, 2018
This is version 159 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Cookie policy

We would like to use anonymized google analytics cookies to gather statistics on how uniprot.org is used in aggregate. Learn more

UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health