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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.

GO - Molecular functioni

  1. gamma-aminobutyric acid:sodium symporter activity Source: Ensembl
  2. neurotransmitter:sodium symporter activity Source: InterPro

GO - Biological processi

  1. gamma-aminobutyric acid import Source: Ensembl
  2. learning Source: Ensembl
  3. negative regulation of synaptic transmission, GABAergic Source: Ensembl
  4. neurotransmitter secretion Source: Reactome
  5. positive regulation of gamma-aminobutyric acid secretion Source: Ensembl
  6. protein homooligomerization Source: Ensembl
  7. response to calcium ion Source: Ensembl
  8. response to cocaine Source: Ensembl
  9. response to estradiol Source: Ensembl
  10. response to lead ion Source: Ensembl
  11. response to purine-containing compound Source: Ensembl
  12. response to sucrose Source: Ensembl
  13. response to toxic substance Source: Ensembl
  14. synaptic transmission Source: Reactome
  15. transmembrane transport Source: Reactome
  16. transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Neurotransmitter transport, Symport, Transport

Enzyme and pathway databases

ReactomeiREACT_20506. Na+/Cl- dependent neurotransmitter transporters.
REACT_23910. Reuptake of GABA.
SABIO-RKP30531.

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
ProteomesiUP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:11042. SLC6A1.

Subcellular locationi

Cell membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein
Note: Localized at the plasma membrane and in a subset of intracellular vesicles. Localized at the presynaptic terminals of interneurons (By similarity).By similarity

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 5252CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei53 – 7321Helical; Name=1Sequence AnalysisAdd
BLAST
Transmembranei81 – 10020Helical; Name=2Sequence AnalysisAdd
BLAST
Transmembranei124 – 14421Helical; Name=3Sequence AnalysisAdd
BLAST
Topological domaini145 – 21167ExtracellularSequence AnalysisAdd
BLAST
Transmembranei212 – 23019Helical; Name=4Sequence AnalysisAdd
BLAST
Transmembranei239 – 25618Helical; Name=5Sequence AnalysisAdd
BLAST
Transmembranei292 – 30918Helical; Name=6Sequence AnalysisAdd
BLAST
Transmembranei321 – 34222Helical; Name=7Sequence AnalysisAdd
BLAST
Transmembranei375 – 39420Helical; Name=8Sequence AnalysisAdd
BLAST
Transmembranei422 – 44019Helical; Name=9Sequence AnalysisAdd
BLAST
Transmembranei457 – 47721Helical; Name=10Sequence AnalysisAdd
BLAST
Transmembranei498 – 51720Helical; Name=11Sequence AnalysisAdd
BLAST
Transmembranei536 – 55419Helical; Name=12Sequence AnalysisAdd
BLAST
Topological domaini555 – 59945CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. axon Source: Ensembl
  2. cell surface Source: Ensembl
  3. integral component of membrane Source: ProtInc
  4. integral component of plasma membrane Source: InterPro
  5. membrane Source: ProtInc
  6. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA309.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 599599Sodium- and chloride-dependent GABA transporter 1PRO_0000214743Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi176 – 1761N-linked (GlcNAc...)Sequence Analysis
Glycosylationi181 – 1811N-linked (GlcNAc...)Sequence Analysis
Glycosylationi184 – 1841N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP30531.
PRIDEiP30531.

PTM databases

PhosphoSiteiP30531.

Expressioni

Gene expression databases

BgeeiP30531.
CleanExiHS_SLC6A1.
ExpressionAtlasiP30531. baseline and differential.
GenevestigatoriP30531.

Organism-specific databases

HPAiCAB022293.
HPA013341.

Interactioni

Subunit structurei

Interacts with MPP5.By similarity

Protein-protein interaction databases

BioGridi112420. 2 interactions.
IntActiP30531. 1 interaction.
STRINGi9606.ENSP00000287766.

Structurei

3D structure databases

ProteinModelPortaliP30531.
SMRiP30531. Positions 43-576.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi597 – 5993PDZ-binding

Domaini

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

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0733.
GeneTreeiENSGT00760000118857.
HOGENOMiHOG000116406.
HOVERGENiHBG071421.
InParanoidiP30531.
KOiK05034.
OMAiTCITQGG.
OrthoDBiEOG793B71.
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 4, 2009 - v2
Checksum:i094DB39C1D3B75D2
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti558 – 5581T → A in CAA38484 (PubMed:2387399).Curated
Sequence conflicti577 – 5771I → T in CAA38484 (PubMed:2387399).Curated
Sequence conflicti586 – 5872QP → HA in CAA38484 (PubMed:2387399).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti521 – 5211P → Q.1 Publication
Corresponds to variant rs17855574 [ dbSNP | Ensembl ].
VAR_055088

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_005265410.2.
XP_005265468.1. XM_005265411.2.
XP_006713369.1. XM_006713306.1.
UniGeneiHs.443874.

Genome annotation databases

EnsembliENST00000287766; ENSP00000287766; ENSG00000157103.
GeneIDi6529.
KEGGihsa:6529.
UCSCiuc010hdq.3. human.

Polymorphism databases

DMDMi229462780.

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_005265410.2.
XP_005265468.1. XM_005265411.2.
XP_006713369.1. XM_006713306.1.
UniGeneiHs.443874.

3D structure databases

ProteinModelPortaliP30531.
SMRiP30531. Positions 43-576.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112420. 2 interactions.
IntActiP30531. 1 interaction.
STRINGi9606.ENSP00000287766.

Chemistry

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

Protein family/group databases

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

PTM databases

PhosphoSiteiP30531.

Polymorphism databases

DMDMi229462780.

Proteomic databases

PaxDbiP30531.
PRIDEiP30531.

Protocols and materials databases

DNASUi6529.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000287766; ENSP00000287766; ENSG00000157103.
GeneIDi6529.
KEGGihsa:6529.
UCSCiuc010hdq.3. human.

Organism-specific databases

CTDi6529.
GeneCardsiGC03P011009.
HGNCiHGNC:11042. SLC6A1.
HPAiCAB022293.
HPA013341.
MIMi137165. gene.
neXtProtiNX_P30531.
PharmGKBiPA309.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0733.
GeneTreeiENSGT00760000118857.
HOGENOMiHOG000116406.
HOVERGENiHBG071421.
InParanoidiP30531.
KOiK05034.
OMAiTCITQGG.
OrthoDBiEOG793B71.
PhylomeDBiP30531.
TreeFamiTF343812.

Enzyme and pathway databases

ReactomeiREACT_20506. Na+/Cl- dependent neurotransmitter transporters.
REACT_23910. Reuptake of GABA.
SABIO-RKP30531.

Miscellaneous databases

ChiTaRSiSLC6A1. human.
GeneWikiiGABA_transporter_1.
GenomeRNAii6529.
NextBioi25403.
PROiP30531.
SOURCEiSearch...

Gene expression databases

BgeeiP30531.
CleanExiHS_SLC6A1.
ExpressionAtlasiP30531. baseline and differential.
GenevestigatoriP30531.

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...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of the human brain GABA transporter."
    Nelson H., Mandiyan S., Nelson N.
    FEBS Lett. 269:181-184(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLN-521.
    Tissue: Brain.

Entry informationi

Entry nameiSC6A1_HUMAN
AccessioniPrimary (citable) accession number: P30531
Secondary accession number(s): Q8N4K8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 31, 1993
Last sequence update: May 4, 2009
Last modified: January 6, 2015
This is version 128 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

External Data

Dasty 3

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 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.