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Entry version 153 (18 Sep 2019)
Sequence version 3 (14 Oct 2008)
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Protein

Sodium- and chloride-dependent GABA transporter 2

Gene

SLC6A13

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

Sodium-dependent GABA and taurine transporter. In presynaptic terminals, regulates GABA signaling termination through GABA uptake. May also be involved in beta-alanine transport.2 Publications

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=3.7 µM for GABA1 Publication
  2. KM=20.2 µM for beta-alanine1 Publication

    <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

    <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

    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
    Q9NSD5

    SIGNOR Signaling Network Open Resource

    More...
    SIGNORi
    Q9NSD5

    Protein family/group databases

    Transport Classification Database

    More...
    TCDBi
    2.A.22.3.10 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 2
    Short name:
    GAT-2
    Alternative name(s):
    Solute carrier family 6 member 13
    <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:SLC6A13
    Synonyms:GAT2
    <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 12

    Organism-specific databases

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:11046 SLC6A13

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    615097 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q9NSD5

    <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 – 40CytoplasmicSequence analysisAdd BLAST40
    <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>Transmembranei41 – 61Helical; Name=1Sequence analysisAdd BLAST21
    Transmembranei68 – 88Helical; Name=2Sequence analysisAdd BLAST21
    Transmembranei121 – 141Helical; Name=3Sequence analysisAdd BLAST21
    Topological domaini142 – 206ExtracellularSequence analysisAdd BLAST65
    Transmembranei207 – 227Helical; Name=4Sequence analysisAdd BLAST21
    Transmembranei233 – 253Helical; Name=5Sequence analysisAdd BLAST21
    Transmembranei282 – 302Helical; Name=6Sequence analysisAdd BLAST21
    Transmembranei319 – 339Helical; Name=7Sequence analysisAdd BLAST21
    Transmembranei366 – 386Helical; Name=8Sequence analysisAdd BLAST21
    Transmembranei418 – 438Helical; Name=9Sequence analysisAdd BLAST21
    Transmembranei453 – 473Helical; Name=10Sequence analysisAdd BLAST21
    Transmembranei490 – 510Helical; Name=11Sequence analysisAdd BLAST21
    Transmembranei528 – 548Helical; Name=12Sequence analysisAdd BLAST21
    Topological domaini549 – 602CytoplasmicSequence analysisAdd BLAST54

    Keywords - Cellular componenti

    Cell membrane, Membrane

    <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

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi48E → A: 50% reduction of GABA-uptake. 1 Publication1
    Mutagenesisi48E → L or Y: 90% reduction of GABA-uptake. 1 Publication1
    Mutagenesisi51G → A or L: Complete loss of GABA-uptake. 1 Publication1
    Mutagenesisi132V → I: Complete loss of GABA-uptake. 1 Publication1

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    6540

    Open Targets

    More...
    OpenTargetsi
    ENSG00000010379

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA35909

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...
    ChEMBLi
    CHEMBL4535

    Drug and drug target database

    More...
    DrugBanki
    DB08848 Guvacine

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    SLC6A13

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    209572724

    <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_00002147921 – 602Sodium- and chloride-dependent GABA transporter 2Add BLAST602

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <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 bondi153 ↔ 162By 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>Glycosylationi173N-linked (GlcNAc...) asparagineSequence analysis1
    Glycosylationi269N-linked (GlcNAc...) asparagineSequence analysis1
    <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 residuei587PhosphothreonineBy similarity1
    Modified residuei591PhosphoserineBy similarity1

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    Q9NSD5

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    Q9NSD5

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q9NSD5

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

    More...
    PaxDbi
    Q9NSD5

    PeptideAtlas

    More...
    PeptideAtlasi
    Q9NSD5

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q9NSD5

    ProteomicsDB human proteome resource

    More...
    ProteomicsDBi
    74864
    82535 [Q9NSD5-1]
    82536 [Q9NSD5-2]

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q9NSD5

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

    More...
    PhosphoSitePlusi
    Q9NSD5

    <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

    <p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

    Expressed in brain, kidney, lung, liver and testis.2 Publications

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000010379 Expressed in 148 organ(s), highest expression level in pigmented layer of retina

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q9NSD5 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q9NSD5 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA036449
    HPA052726

    <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

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    112431, 1 interactor

    Protein interaction database and analysis system

    More...
    IntActi
    Q9NSD5, 1 interactor

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000339260

    Chemistry databases

    BindingDB database of measured binding affinities

    More...
    BindingDBi
    Q9NSD5

    <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
    Q9NSD5

    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

    <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
    ENSGT00940000157478

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000116406

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q9NSD5

    KEGG Orthology (KO)

    More...
    KOi
    K05046

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    FQRTNGS

    Database of Orthologous Groups

    More...
    OrthoDBi
    1609941at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q9NSD5

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF343812

    Family and domain databases

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR000175 Na/ntran_symport
    IPR002981 Na/ntran_symport_GABA_GAT2
    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
    PR01196 GAT2TRNSPORT
    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>Sequences (3+)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 describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q9NSD5-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide
            10         20         30         40         50
    MDSRVSGTTS NGETKPVYPV MEKKEEDGTL ERGHWNNKME FVLSVAGEII
    60 70 80 90 100
    GLGNVWRFPY LCYKNGGGAF FIPYLVFLFT CGIPVFLLET ALGQYTSQGG
    110 120 130 140 150
    VTAWRKICPI FEGIGYASQM IVILLNVYYI IVLAWALFYL FSSFTIDLPW
    160 170 180 190 200
    GGCYHEWNTE HCMEFQKTNG SLNGTSENAT SPVIEFWERR VLKISDGIQH
    210 220 230 240 250
    LGALRWELAL CLLLAWVICY FCIWKGVKST GKVVYFTATF PYLMLVVLLI
    260 270 280 290 300
    RGVTLPGAAQ GIQFYLYPNL TRLWDPQVWM DAGTQIFFSF AICLGCLTAL
    310 320 330 340 350
    GSYNKYHNNC YRDCIALCFL NSGTSFVAGF AIFSILGFMS QEQGVPISEV
    360 370 380 390 400
    AESGPGLAFI AYPRAVVMLP FSPLWACCFF FMVVLLGLDS QFVCVESLVT
    410 420 430 440 450
    ALVDMYPHVF RKKNRREVLI LGVSVVSFLV GLIMLTEGGM YVFQLFDYYA
    460 470 480 490 500
    ASGMCLLFVA IFESLCVAWV YGAKRFYDNI EDMIGYRPWP LIKYCWLFLT
    510 520 530 540 550
    PAVCTATFLF SLIKYTPLTY NKKYTYPWWG DALGWLLALS SMVCIPAWSL
    560 570 580 590 600
    YRLGTLKGPF RERIRQLMCP AEDLPQRNPA GPSAPATPRT SLLRLTELES

    HC
    Length:602
    Mass (Da):68,009
    Last modified:October 14, 2008 - v3
    <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:i3BA3AB4BABBDC980
    GO
    Isoform 2 (identifier: Q9NSD5-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         68-159: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:510
    Mass (Da):57,566
    Checksum:iE78C27C24638523C
    GO
    Isoform 3 (identifier: Q9NSD5-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         69-97: AFFIPYLVFLFTCGIPVFLLETALGQYTS → EMRALVPPHPLLEGGYFHLLHLRPLWGVP
         98-602: Missing.

    Show »
    Length:97
    Mass (Da):10,910
    Checksum:i5E6FE017E6EDEA01
    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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    F5H6S9F5H6S9_HUMAN
    Transporter
    SLC6A13
    123Annotation 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>
    F5GZA5F5GZA5_HUMAN
    Sodium- and chloride-dependent GABA...
    SLC6A13
    150Annotation 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>
    F5H5D9F5H5D9_HUMAN
    Sodium- and chloride-dependent GABA...
    SLC6A13
    69Annotation 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>

    <p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

    The sequence AAF64247 differs from that shown. Reason: Frameshift at position 542.Curated

    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 conflicti19 – 36Missing in AAF64247 (PubMed:11824941).CuratedAdd BLAST18
    Sequence conflicti37N → H in AAF64247 (PubMed:11824941).Curated1
    Sequence conflicti312 – 321Missing in AAF64247 (PubMed:11824941).Curated10
    Sequence conflicti429L → P in AAF64247 (PubMed:11824941).Curated1

    Natural variant

    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_011594426V → I. Corresponds to variant dbSNP:rs577294Ensembl.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04307068 – 159Missing in isoform 2. 1 PublicationAdd BLAST92
    Alternative sequenceiVSP_04488769 – 97AFFIP…GQYTS → EMRALVPPHPLLEGGYFHLL HLRPLWGVP in isoform 3. 2 PublicationsAdd BLAST29
    Alternative sequenceiVSP_04488898 – 602Missing in isoform 3. 2 PublicationsAdd BLAST505

    Sequence databases

    Select the link destinations:

    EMBL nucleotide sequence database

    More...
    EMBLi

    GenBank nucleotide sequence database

    More...
    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...
    DDBJi
    Links Updated
    U76343 mRNA Translation: AAF64247.1 Frameshift.
    AK296127 mRNA Translation: BAG58873.1
    AF462445 mRNA Translation: AAP97713.1
    AK313511 mRNA Translation: BAG36291.1
    AC007406 Genomic DNA No translation available.
    CH471116 Genomic DNA Translation: EAW88974.1
    BC020867 mRNA Translation: AAH20867.1
    BC022392 mRNA Translation: AAH22392.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS53729.1 [Q9NSD5-2]
    CCDS58198.1 [Q9NSD5-3]
    CCDS8502.1 [Q9NSD5-1]

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_001177926.1, NM_001190997.2 [Q9NSD5-2]
    NP_001230321.1, NM_001243392.1 [Q9NSD5-3]
    NP_057699.2, NM_016615.4 [Q9NSD5-1]

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000343164; ENSP00000339260; ENSG00000010379 [Q9NSD5-1]
    ENST00000436453; ENSP00000389316; ENSG00000010379 [Q9NSD5-3]
    ENST00000445055; ENSP00000407104; ENSG00000010379 [Q9NSD5-2]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    6540

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:6540

    UCSC genome browser

    More...
    UCSCi
    uc001qic.3 human [Q9NSD5-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, 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
    U76343 mRNA Translation: AAF64247.1 Frameshift.
    AK296127 mRNA Translation: BAG58873.1
    AF462445 mRNA Translation: AAP97713.1
    AK313511 mRNA Translation: BAG36291.1
    AC007406 Genomic DNA No translation available.
    CH471116 Genomic DNA Translation: EAW88974.1
    BC020867 mRNA Translation: AAH20867.1
    BC022392 mRNA Translation: AAH22392.1
    CCDSiCCDS53729.1 [Q9NSD5-2]
    CCDS58198.1 [Q9NSD5-3]
    CCDS8502.1 [Q9NSD5-1]
    RefSeqiNP_001177926.1, NM_001190997.2 [Q9NSD5-2]
    NP_001230321.1, NM_001243392.1 [Q9NSD5-3]
    NP_057699.2, NM_016615.4 [Q9NSD5-1]

    3D structure databases

    SMRiQ9NSD5
    ModBaseiSearch...

    Protein-protein interaction databases

    BioGridi112431, 1 interactor
    IntActiQ9NSD5, 1 interactor
    STRINGi9606.ENSP00000339260

    Chemistry databases

    BindingDBiQ9NSD5
    ChEMBLiCHEMBL4535
    DrugBankiDB08848 Guvacine

    Protein family/group databases

    TCDBi2.A.22.3.10 the neurotransmitter:sodium symporter (nss) family

    PTM databases

    iPTMnetiQ9NSD5
    PhosphoSitePlusiQ9NSD5

    Polymorphism and mutation databases

    BioMutaiSLC6A13
    DMDMi209572724

    Proteomic databases

    jPOSTiQ9NSD5
    MassIVEiQ9NSD5
    MaxQBiQ9NSD5
    PaxDbiQ9NSD5
    PeptideAtlasiQ9NSD5
    PRIDEiQ9NSD5
    ProteomicsDBi74864
    82535 [Q9NSD5-1]
    82536 [Q9NSD5-2]

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    6540
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000343164; ENSP00000339260; ENSG00000010379 [Q9NSD5-1]
    ENST00000436453; ENSP00000389316; ENSG00000010379 [Q9NSD5-3]
    ENST00000445055; ENSP00000407104; ENSG00000010379 [Q9NSD5-2]
    GeneIDi6540
    KEGGihsa:6540
    UCSCiuc001qic.3 human [Q9NSD5-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    6540
    DisGeNETi6540

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    SLC6A13
    HGNCiHGNC:11046 SLC6A13
    HPAiHPA036449
    HPA052726
    MIMi615097 gene
    neXtProtiNX_Q9NSD5
    OpenTargetsiENSG00000010379
    PharmGKBiPA35909

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG3659 Eukaryota
    COG0733 LUCA
    GeneTreeiENSGT00940000157478
    HOGENOMiHOG000116406
    InParanoidiQ9NSD5
    KOiK05046
    OMAiFQRTNGS
    OrthoDBi1609941at2759
    PhylomeDBiQ9NSD5
    TreeFamiTF343812

    Enzyme and pathway databases

    ReactomeiR-HSA-442660 Na+/Cl- dependent neurotransmitter transporters
    R-HSA-888593 Reuptake of GABA
    SABIO-RKiQ9NSD5
    SIGNORiQ9NSD5

    Miscellaneous databases

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

    More...
    GenomeRNAii
    6540

    Pharos

    More...
    Pharosi
    Q9NSD5

    Protein Ontology

    More...
    PROi
    PR:Q9NSD5

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000010379 Expressed in 148 organ(s), highest expression level in pigmented layer of retina
    ExpressionAtlasiQ9NSD5 baseline and differential
    GenevisibleiQ9NSD5 HS

    Family and domain databases

    InterProiView protein in InterPro
    IPR000175 Na/ntran_symport
    IPR002981 Na/ntran_symport_GABA_GAT2
    IPR037272 SNS_sf
    PANTHERiPTHR11616 PTHR11616, 1 hit
    PfamiView protein in Pfam
    PF00209 SNF, 1 hit
    PRINTSiPR01196 GAT2TRNSPORT
    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 nameiS6A13_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: Q9NSD5
    Secondary accession number(s): B4DJL1, Q8TCC2, Q8WW56
    <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: September 26, 2001
    Last sequence update: October 14, 2008
    Last modified: September 18, 2019
    This is version 153 of the entry and version 3 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. SIMILARITY comments
      Index of protein domains and families
    2. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    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
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