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Protein

Sodium- and chloride-dependent GABA transporter 2

Gene

SLC6A13

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

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

Kineticsi

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

    GO - Molecular functioni

    • gamma-aminobutyric acid:sodium symporter activity Source: GO_Central
    • neurotransmitter binding Source: GO_Central

    Keywordsi

    Biological processNeurotransmitter transport, Symport, Transport

    Enzyme and pathway databases

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

    Protein family/group databases

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

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sodium- and chloride-dependent GABA transporter 2
    Short name:
    GAT-2
    Alternative name(s):
    Solute carrier family 6 member 13
    Gene namesi
    Name:SLC6A13
    Synonyms:GAT2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 12

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000010379.15
    HGNCiHGNC:11046 SLC6A13
    MIMi615097 gene
    neXtProtiNX_Q9NSD5

    Subcellular locationi

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

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Topological domaini1 – 40CytoplasmicSequence analysisAdd BLAST40
    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

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    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

    DisGeNETi6540
    OpenTargetsiENSG00000010379
    PharmGKBiPA35909

    Chemistry databases

    ChEMBLiCHEMBL4535
    DrugBankiDB08848 Guvacine

    Polymorphism and mutation databases

    BioMutaiSLC6A13
    DMDMi209572724

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00002147921 – 602Sodium- and chloride-dependent GABA transporter 2Add BLAST602

    Amino acid modifications

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

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiQ9NSD5
    PaxDbiQ9NSD5
    PeptideAtlasiQ9NSD5
    PRIDEiQ9NSD5
    ProteomicsDBi82535
    82536 [Q9NSD5-2]

    PTM databases

    iPTMnetiQ9NSD5
    PhosphoSitePlusiQ9NSD5

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    BgeeiENSG00000010379 Expressed in 148 organ(s), highest expression level in pigmented layer of retina
    CleanExiHS_SLC6A13
    ExpressionAtlasiQ9NSD5 baseline and differential
    GenevisibleiQ9NSD5 HS

    Organism-specific databases

    HPAiHPA036449
    HPA052726

    Interactioni

    Protein-protein interaction databases

    BioGridi112431, 1 interactor
    IntActiQ9NSD5, 1 interactor
    STRINGi9606.ENSP00000339260

    Chemistry databases

    BindingDBiQ9NSD5

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NSD5
    SMRiQ9NSD5
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiKOG3659 Eukaryota
    COG0733 LUCA
    GeneTreeiENSGT00760000118857
    HOGENOMiHOG000116406
    HOVERGENiHBG071421
    InParanoidiQ9NSD5
    KOiK05039
    OMAiGMATFIF
    OrthoDBiEOG091G08PX
    PhylomeDBiQ9NSD5
    TreeFamiTF343812

    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

    Sequences (3+)i

    Sequence statusi: Complete.

    This entry describes 3 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 'canonical' 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
    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

    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:
    F5GZA5F5GZA5_HUMAN
    Sodium- and chloride-dependent GABA...
    SLC6A13
    150Annotation score:
    F5H5D9F5H5D9_HUMAN
    Sodium- and chloride-dependent GABA...
    SLC6A13
    69Annotation score:

    Sequence cautioni

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

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    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
    Natural variantiVAR_011594426V → I. Corresponds to variant dbSNP:rs577294Ensembl.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    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:
    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]
    UniGeneiHs.504398
    Hs.733878

    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]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Similar proteinsi

    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]
    UniGeneiHs.504398
    Hs.733878

    3D structure databases

    ProteinModelPortaliQ9NSD5
    SMRiQ9NSD5
    ModBaseiSearch...
    MobiDBiSearch...

    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

    MaxQBiQ9NSD5
    PaxDbiQ9NSD5
    PeptideAtlasiQ9NSD5
    PRIDEiQ9NSD5
    ProteomicsDBi82535
    82536 [Q9NSD5-2]

    Protocols and materials databases

    DNASUi6540
    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

    CTDi6540
    DisGeNETi6540
    EuPathDBiHostDB:ENSG00000010379.15
    GeneCardsiSLC6A13
    HGNCiHGNC:11046 SLC6A13
    HPAiHPA036449
    HPA052726
    MIMi615097 gene
    neXtProtiNX_Q9NSD5
    OpenTargetsiENSG00000010379
    PharmGKBiPA35909
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG3659 Eukaryota
    COG0733 LUCA
    GeneTreeiENSGT00760000118857
    HOGENOMiHOG000116406
    HOVERGENiHBG071421
    InParanoidiQ9NSD5
    KOiK05039
    OMAiGMATFIF
    OrthoDBiEOG091G08PX
    PhylomeDBiQ9NSD5
    TreeFamiTF343812

    Enzyme and pathway databases

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

    Miscellaneous databases

    GenomeRNAii6540
    PROiPR:Q9NSD5
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000010379 Expressed in 148 organ(s), highest expression level in pigmented layer of retina
    CleanExiHS_SLC6A13
    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
    ProtoNetiSearch...

    Entry informationi

    Entry nameiS6A13_HUMAN
    AccessioniPrimary (citable) accession number: Q9NSD5
    Secondary accession number(s): B4DJL1, Q8TCC2, Q8WW56
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2001
    Last sequence update: October 14, 2008
    Last modified: November 7, 2018
    This is version 147 of the entry and version 3 of the sequence. See complete history.
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. SIMILARITY comments
      Index of protein domains and families
    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. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
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