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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
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:114259596-114294491 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 53.05 cM, cytoband E3
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    441 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95627
 protein coding gene Chr6:114259596-114294493 (+)
129S1/SvImJ MGP_129S1SvImJ_G0031140
 protein coding gene Chr6:116848560-116883065 (+)
A/J MGP_AJ_G0031109
 protein coding gene Chr6:112367521-112403592 (+)
AKR/J MGP_AKRJ_G0031040
 protein coding gene Chr6:115385742-115422119 (+)
BALB/cJ MGP_BALBcJ_G0031120
 protein coding gene Chr6:112314118-112348970 (+)
C3H/HeJ MGP_C3HHeJ_G0030588
 protein coding gene Chr6:68877561-68912156 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031579
 protein coding gene Chr6:119848286-119884586 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028743
 protein coding gene Chr6:109393641-109428107 (+)
CAST/EiJ MGP_CASTEiJ_G0030227
 protein coding gene Chr6:115861553-115895570 (+)
CBA/J MGP_CBAJ_G0030806
 protein coding gene Chr6:124597457-124638252 (+)
DBA/2J MGP_DBA2J_G0030959
 protein coding gene Chr6:111443906-111478724 (+)
FVB/NJ MGP_FVBNJ_G0030913
 protein coding gene Chr6:110457462-110492504 (+)
LP/J MGP_LPJ_G0031039
 protein coding gene Chr6:116864511-116905576 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030947
 protein coding gene Chr6:128799959-128836350 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031606
 protein coding gene Chr6:115410395-115445124 (+)
PWK/PhJ MGP_PWKPhJ_G0029943
 protein coding gene Chr6:110416027-110451371 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029771
 protein coding gene Chr6:114229311-114263949 (+)
WSB/EiJ MGP_WSBEiJ_G0030311
 protein coding gene Chr6:115783805-115819097 (+)



Homology
more
  • Human Ortholog
    SLC6A1, solute carrier family 6 member 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC6A1, solute carrier family 6 member 1
  • Synonyms
    GABATHG, GABATR, GAT1, hGAT-1, MAE
  • Links
    NCBI Gene ID: 6529
    neXtProt AC: NX_P30531
    UniProt: P30531

  • Chr Location
    3p25.3; chr3:10992718-11039249 (+)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Slc6a1 mouse models

Human Disease Mouse Models
      
IDs
 View 1 model
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
    30 phenotypes from 3 alleles in 3 genetic backgrounds
    28 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    50
  • GO References
    13
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1169
  • Tissues
    202
  • cDNA Data
    72
  • Literature Summary
    26
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 232333 NCBI Gene Model | MGI Sequence Detail 34896 C57BL/6J ±  kb
    transcript NM_178703 RefSeq | MGI Sequence Detail 4144 C57BL/6  
    polypeptide P31648 UniProt | EBI | MGI Sequence Detail 599 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000015176 sodium- and chloride-dependent GABA transporter 1
      (term hierarchy)
    • InterPro Domains
      IPR000175 Sodium:neurotransmitter symporter
      IPR002980 Sodium:neurotransmitter symporter, GABA, GAT-1
      IPR037272 Sodium:neurotransmitter symporter superfamily
    Molecular
    Reagents
    less
    • All nucleic 86
      Genomic 2
      cDNA 76
      Primer pair 6
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-19419, MGD-MRK-9946, MGD-MRK-9947
    References
    more
    • Summaries
      All 102
      Developmental Gene Expression 26
      Diseases 1
      Gene Ontology 13
      Phenotypes 28
    • 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:330808 Mermer F, et al., Astrocytic GABA transporter 1 deficit in novel SLC6A1 variants mediated epilepsy: Connected from protein destabilization to seizures in mice and humans. Neurobiol Dis. 2022 Oct 1;172:105810
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    03/21/2023
    MGI 6.22     		The Jackson Laboratory