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Entry version 170 (16 Oct 2019)
Sequence version 2 (05 May 2009)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters
R-HSA-888593 Reuptake of GABA

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
P30531

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P30531

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.22.3.2 the neurotransmitter:sodium symporter (nss) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Sodium- and chloride-dependent GABA transporter 1
Short name:
GAT-1
Alternative name(s):
Solute carrier family 6 member 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC6A1
Synonyms:GABATR, GABT1, GAT1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11042 SLC6A1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
137165 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P30531

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 52CytoplasmicSequence analysisAdd BLAST52
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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 junction, Cell membrane, Cell projection, Membrane, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
6529

MalaCards human disease database

More...
MalaCardsi
SLC6A1
MIMi616421 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000157103

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
1942 Myoclonic-astastic epilepsy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA309

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P30531

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL1903

Drug and drug target database

More...
DrugBanki
DB00349 Clobazam
DB08848 Guvacine
DB00906 Tiagabine

DrugCentral

More...
DrugCentrali
P30531

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
929

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC6A1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
229462780

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002147431 – 599Sodium- and chloride-dependent GABA transporter 1Add BLAST599

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei18PhosphoserineBy similarity1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi164 ↔ 173By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>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

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
P30531

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P30531

PeptideAtlas

More...
PeptideAtlasi
P30531

PRoteomics IDEntifications database

More...
PRIDEi
P30531

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
54714

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P30531

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P30531

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000157103 Expressed in 153 organ(s), highest expression level in ventral tegmental area

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P30531 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P30531 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB022293
HPA013341

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with MPP5.

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
DNAJC5Q9H3Z42EBI-9071694,EBI-4324577

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
112420, 19 interactors

Protein interaction database and analysis system

More...
IntActi
P30531, 5 interactors

Molecular INTeraction database

More...
MINTi
P30531

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000287766

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P30531

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
P30531

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi597 – 599PDZ-binding3

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3659 Eukaryota
COG0733 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156027

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000116406

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P30531

KEGG Orthology (KO)

More...
KOi
K05034

Identification of Orthologs from Complete Genome Data

More...
OMAi
GMATFIF

Database of Orthologous Groups

More...
OrthoDBi
1401503at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P30531

TreeFam database of animal gene trees

More...
TreeFami
TF343812

Family and domain databases

Conserved Domains Database

More...
CDDi
cd11506 SLC6sbd_GAT1, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000175 Na/ntran_symport
IPR002980 Na/ntran_symport_GABA_GAT1
IPR037272 SNS_sf

The PANTHER Classification System

More...
PANTHERi
PTHR11616 PTHR11616, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00209 SNF, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01195 GAT1TRNSPORT
PR00176 NANEUSMPORT

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF161070 SSF161070, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00610 NA_NEUROTRAN_SYMP_1, 1 hit
PS00754 NA_NEUROTRAN_SYMP_2, 1 hit
PS50267 NA_NEUROTRAN_SYMP_3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 11 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i094DB39C1D3B75D2
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8YDD5A0A2R8YDD5_HUMAN
Transporter
SLC6A1
608Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y3X2A0A2R8Y3X2_HUMAN
Transporter
SLC6A1
171Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y495A0A2R8Y495_HUMAN
Transporter
SLC6A1
184Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YCM3A0A2R8YCM3_HUMAN
Transporter
SLC6A1
380Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YEF0A0A2R8YEF0_HUMAN
Transporter
SLC6A1
162Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YF74A0A2R8YF74_HUMAN
Transporter
SLC6A1
515Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YFI0A0A2R8YFI0_HUMAN
Transporter
SLC6A1
112Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B7Z3C5B7Z3C5_HUMAN
Sodium- and chloride-dependent GABA...
SLC6A1
421Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y4I3A0A2R8Y4I3_HUMAN
Sodium- and chloride-dependent GABA...
SLC6A1
479Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y867A0A2R8Y867_HUMAN
Sodium- and chloride-dependent GABA...
SLC6A1
458Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There is more potential isoformShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
X54673 mRNA Translation: CAA38484.1
AC024910 Genomic DNA No translation available.
BC033904 mRNA Translation: AAH33904.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS2603.1

Protein sequence database of the Protein Information Resource

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PIRi
S11073

NCBI Reference Sequences

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RefSeqi
NP_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

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000287766; ENSP00000287766; ENSG00000157103
ENST00000642201; ENSP00000494778; ENSG00000157103
ENST00000642515; ENSP00000496348; ENSG00000157103
ENST00000642639; ENSP00000494191; ENSG00000157103
ENST00000642735; ENSP00000494050; ENSG00000157103
ENST00000642767; ENSP00000494346; ENSG00000157103
ENST00000642820; ENSP00000495900; ENSG00000157103
ENST00000643396; ENSP00000494136; ENSG00000157103
ENST00000643498; ENSP00000494997; ENSG00000157103
ENST00000645029; ENSP00000496171; ENSG00000157103
ENST00000645054; ENSP00000495751; ENSG00000157103
ENST00000645592; ENSP00000496619; ENSG00000157103
ENST00000645974; ENSP00000496390; ENSG00000157103
ENST00000646022; ENSP00000494134; ENSG00000157103
ENST00000646060; ENSP00000496302; ENSG00000157103
ENST00000646570; ENSP00000496064; ENSG00000157103
ENST00000646702; ENSP00000496697; ENSG00000157103
ENST00000646924; ENSP00000493591; ENSG00000157103
ENST00000647194; ENSP00000496238; ENSG00000157103

Database of genes from NCBI RefSeq genomes

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GeneIDi
6529

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6529

UCSC genome browser

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UCSCi
uc010hdq.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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_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

3D structure databases

SMRiP30531
ModBaseiSearch...

Protein-protein interaction databases

BioGridi112420, 19 interactors
IntActiP30531, 5 interactors
MINTiP30531
STRINGi9606.ENSP00000287766

Chemistry databases

BindingDBiP30531
ChEMBLiCHEMBL1903
DrugBankiDB00349 Clobazam
DB08848 Guvacine
DB00906 Tiagabine
DrugCentraliP30531
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

MassIVEiP30531
PaxDbiP30531
PeptideAtlasiP30531
PRIDEiP30531
ProteomicsDBi54714

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
6529

Genome annotation databases

EnsembliENST00000287766; ENSP00000287766; ENSG00000157103
ENST00000642201; ENSP00000494778; ENSG00000157103
ENST00000642515; ENSP00000496348; ENSG00000157103
ENST00000642639; ENSP00000494191; ENSG00000157103
ENST00000642735; ENSP00000494050; ENSG00000157103
ENST00000642767; ENSP00000494346; ENSG00000157103
ENST00000642820; ENSP00000495900; ENSG00000157103
ENST00000643396; ENSP00000494136; ENSG00000157103
ENST00000643498; ENSP00000494997; ENSG00000157103
ENST00000645029; ENSP00000496171; ENSG00000157103
ENST00000645054; ENSP00000495751; ENSG00000157103
ENST00000645592; ENSP00000496619; ENSG00000157103
ENST00000645974; ENSP00000496390; ENSG00000157103
ENST00000646022; ENSP00000494134; ENSG00000157103
ENST00000646060; ENSP00000496302; ENSG00000157103
ENST00000646570; ENSP00000496064; ENSG00000157103
ENST00000646702; ENSP00000496697; ENSG00000157103
ENST00000646924; ENSP00000493591; ENSG00000157103
ENST00000647194; ENSP00000496238; ENSG00000157103
GeneIDi6529
KEGGihsa:6529
UCSCiuc010hdq.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6529
DisGeNETi6529

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SLC6A1
HGNCiHGNC:11042 SLC6A1
HPAiCAB022293
HPA013341
MalaCardsiSLC6A1
MIMi137165 gene
616421 phenotype
neXtProtiNX_P30531
OpenTargetsiENSG00000157103
Orphaneti1942 Myoclonic-astastic epilepsy
PharmGKBiPA309

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3659 Eukaryota
COG0733 LUCA
GeneTreeiENSGT00940000156027
HOGENOMiHOG000116406
InParanoidiP30531
KOiK05034
OMAiGMATFIF
OrthoDBi1401503at2759
PhylomeDBiP30531
TreeFamiTF343812

Enzyme and pathway databases

ReactomeiR-HSA-442660 Na+/Cl- dependent neurotransmitter transporters
R-HSA-888593 Reuptake of GABA
SABIO-RKiP30531
SIGNORiP30531

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
SLC6A1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GABA_transporter_1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
6529
PharosiP30531

Protein Ontology

More...
PROi
PR:P30531

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000157103 Expressed in 153 organ(s), highest expression level in ventral tegmental area
ExpressionAtlasiP30531 baseline and differential
GenevisibleiP30531 HS

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSC6A1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P30531
Secondary accession number(s): Q8N4K8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: May 5, 2009
Last modified: October 16, 2019
This is version 170 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
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