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    Slc6a1 solute carrier family 6 (neurotransmitter transporter, GABA), member 1 [ Mus musculus (house mouse) ]

    Gene ID: 232333, updated on 9-Dec-2024

    Summary

    Official Symbol
    Slc6a1provided by MGI
    Official Full Name
    solute carrier family 6 (neurotransmitter transporter, GABA), member 1provided by MGI
    Primary source
    MGI:MGI:95627
    See related
    Ensembl:ENSMUSG00000030310 AllianceGenome:MGI:95627
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Gabt; Gat1; XT-1; GAT-1; Gabt1; Xtrp1; GABATR; GABATHG; A730043E01
    Summary
    Enables gamma-aminobutyric acid:sodium:chloride symporter activity. Involved in gamma-aminobutyric acid import and neurotransmitter reuptake. Located in axon; neuronal cell body; and plasma membrane. Is active in GABA-ergic synapse. Is expressed in several structures, including heart; nervous system; respiratory system; sensory organ; and skeleton. Used to study schizophrenia. Human ortholog(s) of this gene implicated in alcohol dependence and myoclonic-atonic epilepsy. Orthologous to human SLC6A1 (solute carrier family 6 member 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in cerebellum adult (RPKM 126.5), frontal lobe adult (RPKM 110.5) and 5 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Slc6a1 in Genome Data Viewer
    Location:
    6 E3; 6 53.05 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (114259735..114294491)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (114282635..114317525)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene solute carrier family 6 (neurotransmitter transporter, GABA), member 11 Neighboring gene high mobility group box 1-like pseudogene Neighboring gene predicted gene, 46972 Neighboring gene predicted gene, 38875 Neighboring gene histamine receptor H1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in amino acid transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in amino acid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of associative learning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chloride transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in gamma-aminobutyric acid import IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in gamma-aminobutyric acid import ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in inorganic anion import across plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in learning ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of memory IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of synaptic transmission, GABAergic ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in neurotransmitter reuptake IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neurotransmitter reuptake IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neurotransmitter reuptake ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of gamma-aminobutyric acid secretion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to purine-containing compound ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to toxic substance ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in sodium ion import across plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in sodium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sodium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of synapse organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in GABA-ergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in GABA-ergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    is_active_in GABA-ergic synapse ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in postsynaptic membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in presynaptic membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    sodium- and chloride-dependent GABA transporter 1
    Names
    gamma-aminobutyric acid (GABA-A) transporter 1
    solute carrier family 6 member 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_178703.5NP_848818.1  sodium- and chloride-dependent GABA transporter 1

      See identical proteins and their annotated locations for NP_848818.1

      Status: VALIDATED

      Source sequence(s)
      AC155719
      Consensus CDS
      CCDS20434.1
      UniProtKB/Swiss-Prot
      P31648
      UniProtKB/TrEMBL
      Q6PCX2
      Related
      ENSMUSP00000032454.6, ENSMUST00000032454.8
      Conserved Domains (1) summary
      cd11506
      Location:2599
      SLC6sbd_GAT1; Na(+)- and Cl(-)-dependent GABA transporter 1; solute-binding domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000072.7 Reference GRCm39 C57BL/6J

      Range
      114259735..114294491
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036166059.1XP_036021952.1  sodium- and chloride-dependent GABA transporter 1 isoform X1

      UniProtKB/TrEMBL
      A0A0N4SVF5
      Related
      ENSMUSP00000145080.2, ENSMUST00000204074.2
      Conserved Domains (1) summary
      cl00456
      Location:1350
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain