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Slc6a1 Gene Detail
Summary
  • Symbol
    Slc6a1
  • Name
    solute carrier family 6 (neurotransmitter transporter, GABA), member 1
  • Synonyms
    Gabt, Gabt1, Gat1, GAT-1, XT-1, Xtrp1
  • Feature Type
    protein coding gene
  • IDs
    MGI:95627
    NCBI Gene: 232333
  • Gene Overview
    MyGene.info: SLC6A1
Location & Maps
more
  • Sequence Map
    Chr6:114282635-114317532 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      34898 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 53.05 cM, cytoband E3
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    SLC6A1, solute carrier family 6 member 1
  • Vertebrate Orthologs
    11
  • Human Ortholog
    SLC6A1, solute carrier family 6 member 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    GABATHG, GABATR, GAT1, MAE
  • Links
    NCBI Gene ID: 6529
    neXtProt AC: NX_P30531

  • Chr Location
    3p25.3; chr3:10992729-11039249 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 2290
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;2 zebrafish
  • HCOP
    human homology predictions: SLC6A1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Slc6a1 mouse models; 1 with human SLC6A1 associations

Human Disease Mouse Models
       Schizophrenia; SCZD   OMIM: 181500 View 1 model
       Myoclonic-Atonic Epilepsy; MAE   OMIM: 616421
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    29 phenotypes from 3 alleles in 3 genetic backgrounds
    16 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Gene trapped
    2
  • Spontaneous
    1
  • Targeted
    5
  • Genomic Mutations
    1 involving Slc6a1
  • Incidental Mutations
Homozygous hypomorphic mice display abnormal inhibitory postsynaptic currents, and abnormal GABA uptake and release. Null mice show hyperactivity and various behavioral abnormalities, as well as an aversion to bitter taste.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000056591 VEGA Gene Model | MGI Sequence Detail 34898 C57BL/6J ±  kb
transcript OTTMUST00000139735 VEGA | MGI Sequence Detail 4302 Not Applicable  
polypeptide OTTMUSP00000073300 VEGA | MGI Sequence Detail 599 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    441 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000015176 sodium- and chloride-dependent GABA transporter 1
  • InterPro Domains
    IPR000175 Sodium:neurotransmitter symporter
    IPR002980 Sodium:neurotransmitter symporter, GABA, GAT-1
Molecular
Reagents
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  • All nucleic 84
    Genomic 2
    cDNA 75
    Primer pair 6
    Other 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-19419, MGD-MRK-9946, MGD-MRK-9947
References
more
  • Summaries
    All 74
    Developmental Gene Expression 21
    Diseases 1
    Gene Ontology 7
    Phenotypes 16
  • Earliest
    J:1492 Liu QR, et al., A family of genes encoding neurotransmitter transporters. Proc Natl Acad Sci U S A. 1992 Jul 15;89(14):6639-43
  • Latest
    J:216206 Stephan J, et al., Functional analysis of the inhibitory neurotransmitter transporters GlyT1, GAT-1, and GAT-3 in astrocytes of the lateral superior olive. Glia. 2014 Dec;62(12):1992-2003

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory