Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Sodium- and chloride-dependent GABA transporter 2

Gene

SLC6A13

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

    GO - Biological processi

    Complete GO annotation...

    Keywords - Biological processi

    Neurotransmitter transport, Symport, Transport

    Enzyme and pathway databases

    BioCyciZFISH:ENSG00000010379-MONOMER.
    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

    HGNCiHGNC:11046. SLC6A13.

    Subcellular locationi

    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

    GO - Cellular componenti

    Complete GO annotation...

    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.

    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...)Sequence analysis1
    Glycosylationi269N-linked (GlcNAc...)Sequence analysis1
    Modified residuei587PhosphothreonineBy similarity1
    Modified residuei591PhosphoserineBy similarity1

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiQ9NSD5.
    PaxDbiQ9NSD5.
    PeptideAtlasiQ9NSD5.
    PRIDEiQ9NSD5.

    PTM databases

    iPTMnetiQ9NSD5.
    PhosphoSitePlusiQ9NSD5.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    BgeeiENSG00000010379.
    CleanExiHS_SLC6A13.
    ExpressionAtlasiQ9NSD5. baseline and differential.
    GenevisibleiQ9NSD5. HS.

    Organism-specific databases

    HPAiHPA052726.

    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.
    HOGENOMiHOG000150680.
    HOVERGENiHBG071421.
    InParanoidiQ9NSD5.
    KOiK05039.
    OMAiGGCHHEW.
    OrthoDBiEOG091G08PX.
    PhylomeDBiQ9NSD5.
    TreeFamiTF343812.

    Family and domain databases

    InterProiIPR000175. Na/ntran_symport.
    IPR002981. Na/ntran_symport_GABA_GAT2.
    [Graphical view]
    PANTHERiPTHR11616. PTHR11616. 1 hit.
    PfamiPF00209. SNF. 1 hit.
    [Graphical view]
    PRINTSiPR01196. GAT2TRNSPORT.
    PR00176. NANEUSMPORT.
    PROSITEiPS00610. NA_NEUROTRAN_SYMP_1. 1 hit.
    PS00754. NA_NEUROTRAN_SYMP_2. 1 hit.
    PS50267. NA_NEUROTRAN_SYMP_3. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

    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

    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 rs577294dbSNPEnsembl.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

    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.

    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.

    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.
    GeneCardsiSLC6A13.
    HGNCiHGNC:11046. SLC6A13.
    HPAiHPA052726.
    MIMi615097. gene.
    neXtProtiNX_Q9NSD5.
    OpenTargetsiENSG00000010379.
    PharmGKBiPA35909.
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG3659. Eukaryota.
    COG0733. LUCA.
    GeneTreeiENSGT00760000118857.
    HOGENOMiHOG000150680.
    HOVERGENiHBG071421.
    InParanoidiQ9NSD5.
    KOiK05039.
    OMAiGGCHHEW.
    OrthoDBiEOG091G08PX.
    PhylomeDBiQ9NSD5.
    TreeFamiTF343812.

    Enzyme and pathway databases

    BioCyciZFISH:ENSG00000010379-MONOMER.
    ReactomeiR-HSA-442660. Na+/Cl- dependent neurotransmitter transporters.
    R-HSA-888593. Reuptake of GABA.
    SIGNORiQ9NSD5.

    Miscellaneous databases

    GenomeRNAii6540.
    PROiQ9NSD5.
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000010379.
    CleanExiHS_SLC6A13.
    ExpressionAtlasiQ9NSD5. baseline and differential.
    GenevisibleiQ9NSD5. HS.

    Family and domain databases

    InterProiIPR000175. Na/ntran_symport.
    IPR002981. Na/ntran_symport_GABA_GAT2.
    [Graphical view]
    PANTHERiPTHR11616. PTHR11616. 1 hit.
    PfamiPF00209. SNF. 1 hit.
    [Graphical view]
    PRINTSiPR01196. GAT2TRNSPORT.
    PR00176. NANEUSMPORT.
    PROSITEiPS00610. NA_NEUROTRAN_SYMP_1. 1 hit.
    PS00754. NA_NEUROTRAN_SYMP_2. 1 hit.
    PS50267. NA_NEUROTRAN_SYMP_3. 1 hit.
    [Graphical view]
    ProtoNetiSearch...

    Entry informationi

    Entry nameiS6A13_HUMAN
    AccessioniPrimary (citable) accession number: Q9NSD5
    Secondary accession number(s): B4DJL1, Q8TCC2, Q8WW56
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 26, 2001
    Last sequence update: October 14, 2008
    Last modified: November 2, 2016
    This is version 135 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    Similar proteinsi

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