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: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

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

Complete GO annotation...

Keywords - Biological processi

Neurotransmitter transport, Symport, Transport

Keywords - Ligandi

Metal-binding, Sodium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000157103-MONOMER.
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

HGNCiHGNC:11042. SLC6A1.

Subcellular locationi

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

GO - Cellular componenti

  • axon Source: Ensembl
  • cell surface Source: Ensembl
  • integral component of membrane Source: ProtInc
  • integral component of plasma membrane Source: GO_Central
  • membrane Source: ProtInc
  • neuron projection Source: GO_Central
  • plasma membrane Source: Reactome
Complete GO annotation...

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 rs794726859dbSNPEnsembl.1
Natural variantiVAR_073853288A → V in MAE. 1 PublicationCorresponds to variant rs794726860dbSNPEnsembl.1
Natural variantiVAR_073854297G → R in MAE. 1 Publication1
Natural variantiVAR_073855334A → P in MAE. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi6529.
MIMi616421. phenotype.
OpenTargetsiENSG00000157103.
PharmGKBiPA309.

Chemistry databases

ChEMBLiCHEMBL1903.
DrugBankiDB00349. Clobazam.
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...)Sequence analysis1
Glycosylationi181N-linked (GlcNAc...)Sequence analysis1
Glycosylationi184N-linked (GlcNAc...)Sequence 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. 2 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.
OMAiNCVNQYE.
OrthoDBiEOG091G08PX.
PhylomeDBiP30531.
TreeFamiTF343812.

Family and domain databases

InterProiIPR000175. Na/ntran_symport.
IPR002980. Na/ntran_symport_GABA_GAT1.
[Graphical view]
PANTHERiPTHR11616. PTHR11616. 1 hit.
PfamiPF00209. SNF. 1 hit.
[Graphical view]
PRINTSiPR01195. GAT1TRNSPORT.
PR00176. NANEUSMPORT.
PROSITEiPS00610. NA_NEUROTRAN_SYMP_1. 1 hit.
PS00754. NA_NEUROTRAN_SYMP_2. 1 hit.
PS50267. NA_NEUROTRAN_SYMP_3. 1 hit.
[Graphical view]

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 rs794726859dbSNPEnsembl.1
Natural variantiVAR_073853288A → V in MAE. 1 PublicationCorresponds to variant rs794726860dbSNPEnsembl.1
Natural variantiVAR_073854297G → R in MAE. 1 Publication1
Natural variantiVAR_073855334A → P in MAE. 1 Publication1
Natural variantiVAR_055088521P → Q.1 PublicationCorresponds to variant rs17855574dbSNPEnsembl.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_003033.3. NM_003042.3.
XP_005265467.1. XM_005265410.4.
XP_005265468.1. XM_005265411.4.
XP_006713369.1. XM_006713306.3.
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

Cross-referencesi

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_003033.3. NM_003042.3.
XP_005265467.1. XM_005265410.4.
XP_005265468.1. XM_005265411.4.
XP_006713369.1. XM_006713306.3.
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.

3D structure databases

ProteinModelPortaliP30531.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112420. 2 interactors.
IntActiP30531. 2 interactors.
STRINGi9606.ENSP00000287766.

Chemistry databases

BindingDBiP30531.
ChEMBLiCHEMBL1903.
DrugBankiDB00349. Clobazam.
DB00906. Tiagabine.
GuidetoPHARMACOLOGYi929.

Protein family/group databases

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

PTM databases

iPTMnetiP30531.
PhosphoSitePlusiP30531.

Polymorphism and mutation databases

BioMutaiSLC6A1.
DMDMi229462780.

Proteomic databases

PaxDbiP30531.
PeptideAtlasiP30531.
PRIDEiP30531.

Protocols and materials databases

DNASUi6529.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi6529.
DisGeNETi6529.
GeneCardsiSLC6A1.
HGNCiHGNC:11042. SLC6A1.
HPAiCAB022293.
HPA013341.
MIMi137165. gene.
616421. phenotype.
neXtProtiNX_P30531.
OpenTargetsiENSG00000157103.
PharmGKBiPA309.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000157103-MONOMER.
ReactomeiR-HSA-442660. Na+/Cl- dependent neurotransmitter transporters.
R-HSA-888593. Reuptake of GABA.
SABIO-RKP30531.
SIGNORiP30531.

Miscellaneous databases

ChiTaRSiSLC6A1. human.
GeneWikiiGABA_transporter_1.
GenomeRNAii6529.
PROiP30531.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000157103.
CleanExiHS_SLC6A1.
ExpressionAtlasiP30531. baseline and differential.
GenevisibleiP30531. HS.

Family and domain databases

InterProiIPR000175. Na/ntran_symport.
IPR002980. Na/ntran_symport_GABA_GAT1.
[Graphical view]
PANTHERiPTHR11616. PTHR11616. 1 hit.
PfamiPF00209. SNF. 1 hit.
[Graphical view]
PRINTSiPR01195. GAT1TRNSPORT.
PR00176. NANEUSMPORT.
PROSITEiPS00610. NA_NEUROTRAN_SYMP_1. 1 hit.
PS00754. NA_NEUROTRAN_SYMP_2. 1 hit.
PS50267. NA_NEUROTRAN_SYMP_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSC6A1_HUMAN
AccessioniPrimary (citable) accession number: P30531
Secondary accession number(s): Q8N4K8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: May 5, 2009
Last modified: November 30, 2016
This is version 146 of the entry and version 2 of the sequence. [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

Miscellaneous

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.