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P30531

- SC6A1_HUMAN

UniProt

P30531 - SC6A1_HUMAN

Protein

Sodium- and chloride-dependent GABA transporter 1

Gene

SLC6A1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 125 (01 Oct 2014)
      Sequence version 2 (05 May 2009)
      Previous versions | rss
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    Functioni

    Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals.

    GO - Molecular functioni

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

    GO - Biological processi

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

    Keywords - Biological processi

    Neurotransmitter transport, Symport, Transport

    Enzyme and pathway databases

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

    Protein family/group databases

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

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sodium- and chloride-dependent GABA transporter 1
    Short name:
    GAT-1
    Alternative name(s):
    Solute carrier family 6 member 1
    Gene namesi
    Name:SLC6A1
    Synonyms:GABATR, GABT1, GAT1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:11042. SLC6A1.

    Subcellular locationi

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

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA309.

    PTM / Processingi

    Molecule processing

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

    Amino acid modifications

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

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiP30531.
    PRIDEiP30531.

    PTM databases

    PhosphoSiteiP30531.

    Expressioni

    Gene expression databases

    ArrayExpressiP30531.
    BgeeiP30531.
    CleanExiHS_SLC6A1.
    GenevestigatoriP30531.

    Organism-specific databases

    HPAiCAB022293.
    HPA013341.

    Interactioni

    Subunit structurei

    Interacts with MPP5.By similarity

    Protein-protein interaction databases

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

    Structurei

    3D structure databases

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

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 5252CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini145 – 21167ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini555 – 59945CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

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

    Family & Domainsi

    Motif

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

    Domaini

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

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0733.
    HOGENOMiHOG000116406.
    HOVERGENiHBG071421.
    InParanoidiP30531.
    KOiK05034.
    OMAiFFFNIVQ.
    OrthoDBiEOG793B71.
    PhylomeDBiP30531.
    TreeFamiTF343812.

    Family and domain databases

    InterProiIPR000175. Na/ntran_symport.
    IPR002980. Na/ntran_symport_GABA_GAT1.
    [Graphical view]
    PANTHERiPTHR11616. PTHR11616. 1 hit.
    PfamiPF00209. SNF. 1 hit.
    [Graphical view]
    PRINTSiPR01195. GAT1TRNSPORT.
    PR00176. NANEUSMPORT.
    PROSITEiPS00610. NA_NEUROTRAN_SYMP_1. 1 hit.
    PS00754. NA_NEUROTRAN_SYMP_2. 1 hit.
    PS50267. NA_NEUROTRAN_SYMP_3. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P30531-1 [UniParc]FASTAAdd to Basket

    « Hide

    MATNGSKVAD GQISTEVSEA PVANDKPKTL VVKVQKKAAD LPDRDTWKGR    50
    FDFLMSCVGY AIGLGNVWRF PYLCGKNGGG AFLIPYFLTL IFAGVPLFLL 100
    ECSLGQYTSI GGLGVWKLAP MFKGVGLAAA VLSFWLNIYY IVIISWAIYY 150
    LYNSFTTTLP WKQCDNPWNT DRCFSNYSMV NTTNMTSAVV EFWERNMHQM 200
    TDGLDKPGQI RWPLAITLAI AWILVYFCIW KGVGWTGKVV YFSATYPYIM 250
    LIILFFRGVT LPGAKEGILF YITPNFRKLS DSEVWLDAAT QIFFSYGLGL 300
    GSLIALGSYN SFHNNVYRDS IIVCCINSCT SMFAGFVIFS IVGFMAHVTK 350
    RSIADVAASG PGLAFLAYPE AVTQLPISPL WAILFFSMLL MLGIDSQFCT 400
    VEGFITALVD EYPRLLRNRR ELFIAAVCII SYLIGLSNIT QGGIYVFKLF 450
    DYYSASGMSL LFLVFFECVS ISWFYGVNRF YDNIQEMVGS RPCIWWKLCW 500
    SFFTPIIVAG VFIFSAVQMT PLTMGNYVFP KWGQGVGWLM ALSSMVLIPG 550
    YMAYMFLTLK GSLKQRIQVM VQPSEDIVRP ENGPEQPQAG SSTSKEAYI 599
    Length:599
    Mass (Da):67,074
    Last modified:May 5, 2009 - v2
    Checksum:i094DB39C1D3B75D2
    GO

    Experimental Info

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

    Natural variant

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

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X54673 mRNA. Translation: CAA38484.1.
    AC024910 Genomic DNA. No translation available.
    BC033904 mRNA. Translation: AAH33904.1.
    CCDSiCCDS2603.1.
    PIRiS11073.
    RefSeqiNP_003033.3. NM_003042.3.
    XP_005265467.1. XM_005265410.2.
    XP_005265468.1. XM_005265411.2.
    XP_006713369.1. XM_006713306.1.
    UniGeneiHs.443874.

    Genome annotation databases

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

    Polymorphism databases

    DMDMi229462780.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X54673 mRNA. Translation: CAA38484.1 .
    AC024910 Genomic DNA. No translation available.
    BC033904 mRNA. Translation: AAH33904.1 .
    CCDSi CCDS2603.1.
    PIRi S11073.
    RefSeqi NP_003033.3. NM_003042.3.
    XP_005265467.1. XM_005265410.2.
    XP_005265468.1. XM_005265411.2.
    XP_006713369.1. XM_006713306.1.
    UniGenei Hs.443874.

    3D structure databases

    ProteinModelPortali P30531.
    SMRi P30531. Positions 43-576.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112420. 2 interactions.
    IntActi P30531. 1 interaction.
    STRINGi 9606.ENSP00000287766.

    Chemistry

    BindingDBi P30531.
    ChEMBLi CHEMBL1903.
    DrugBanki DB00907. Cocaine.
    DB00906. Tiagabine.
    GuidetoPHARMACOLOGYi 929.

    Protein family/group databases

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

    PTM databases

    PhosphoSitei P30531.

    Polymorphism databases

    DMDMi 229462780.

    Proteomic databases

    PaxDbi P30531.
    PRIDEi P30531.

    Protocols and materials databases

    DNASUi 6529.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000287766 ; ENSP00000287766 ; ENSG00000157103 .
    GeneIDi 6529.
    KEGGi hsa:6529.
    UCSCi uc010hdq.3. human.

    Organism-specific databases

    CTDi 6529.
    GeneCardsi GC03P011009.
    HGNCi HGNC:11042. SLC6A1.
    HPAi CAB022293.
    HPA013341.
    MIMi 137165. gene.
    neXtProti NX_P30531.
    PharmGKBi PA309.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0733.
    HOGENOMi HOG000116406.
    HOVERGENi HBG071421.
    InParanoidi P30531.
    KOi K05034.
    OMAi FFFNIVQ.
    OrthoDBi EOG793B71.
    PhylomeDBi P30531.
    TreeFami TF343812.

    Enzyme and pathway databases

    Reactomei REACT_20506. Na+/Cl- dependent neurotransmitter transporters.
    REACT_23910. Reuptake of GABA.
    SABIO-RK P30531.

    Miscellaneous databases

    GeneWikii GABA_transporter_1.
    GenomeRNAii 6529.
    NextBioi 25403.
    PROi P30531.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P30531.
    Bgeei P30531.
    CleanExi HS_SLC6A1.
    Genevestigatori P30531.

    Family and domain databases

    InterProi IPR000175. Na/ntran_symport.
    IPR002980. Na/ntran_symport_GABA_GAT1.
    [Graphical view ]
    PANTHERi PTHR11616. PTHR11616. 1 hit.
    Pfami PF00209. SNF. 1 hit.
    [Graphical view ]
    PRINTSi PR01195. GAT1TRNSPORT.
    PR00176. NANEUSMPORT.
    PROSITEi PS00610. NA_NEUROTRAN_SYMP_1. 1 hit.
    PS00754. NA_NEUROTRAN_SYMP_2. 1 hit.
    PS50267. NA_NEUROTRAN_SYMP_3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning of the human brain GABA transporter."
      Nelson H., Mandiyan S., Nelson N.
      FEBS Lett. 269:181-184(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLN-521.
      Tissue: Brain.

    Entry informationi

    Entry nameiSC6A1_HUMAN
    AccessioniPrimary (citable) accession number: P30531
    Secondary accession number(s): Q8N4K8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 1, 1993
    Last sequence update: May 5, 2009
    Last modified: October 1, 2014
    This is version 125 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Miscellaneous

    This protein is the target of psychomotor stimulants such as amphetamines or cocaine.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

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

    External Data

    Dasty 3