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Slc6a1
Gene Detail
Symbol

Name
ID
Slc6a1
solute carrier family 6 (neurotransmitter transporter, GABA), member 1
MGI:95627
Synonyms
Gabt, Gabt1, Gat1, GAT-1, XT-1, Xtrp1
Feature Type
protein coding gene
Genetic Map
Chromosome 6
53.05 cM, cytoband E3
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr6:114282635-114317522 bp, + strand
From Ensembl annotation of GRCm38

  34888 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:2290  Vertebrate Homology Class
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: Slc6a1

Human
homologs
SLC6A1, solute carrier family 6 (neurotransmitter transporter), member 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 6529
neXtProt AC: NX_P30531

Human Synonyms: GABATHG, GABATR, GAT1, MAE

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

Disease Associations: (1) Diseases Associated with Human SLC6A1

Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Gene trapped(2) Spontaneous(1) Targeted(5)
Genomic Mutations involving Slc6a1 (1)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled in Mice Using Slc6a1 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Slc6a1 interacts with 323 markers (Mir1b, Mir10a, Mir15a, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (21 records)
Data Summary: Results (456)    Tissues (198)    Images (65)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 8
RNA in situ 355
RT-PCR 93
cDNA source data(71)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: Xenbase LOC100491859 ; ZFIN slc6a1b    NEW 
Molecular
reagents
All nucleic(84) Genomic(2) cDNA(75) Primer pair(6) Other(1)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000030310 (Evidence)
Entrez Gene 232333 (Evidence)
UniGene 5260
DFCI TC1575900
DoTS DT.101391027, DT.101737105
NIA Mouse Gene Index U007286
Consensus CDS Project CCDS20434.1
International Mouse Phenotyping Consortium Status Slc6a1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000030310 Ensembl Gene Model | MGI Sequence Detail 34888 C57BL/6J ±  kb
transcript ENSMUST00000032454 Ensembl | MGI Sequence Detail 4292 Not Applicable 
polypeptide ENSMUSP00000032454 Ensembl | MGI Sequence Detail 599 Not Applicable 

For the selected sequences
All sequences(24) RefSeq(2) UniProt(2)
Polymorphisms
RFLP(1) : SNPs within 2kb(469 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000175 Sodium:neurotransmitter symporter
InterPro IPR002980 Sodium:neurotransmitter symporter, GABA, GAT-1
Protein Ontology PR:000015176 sodium- and chloride-dependent GABA transporter 1
References
(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:207988 Kim J, et al., Characteristic development of the GABA-removal system in the mouse spinal cord. Neuroscience. 2014 Mar 14;262:129-42
All references(74)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-19419, MGD-MRK-9946, MGD-MRK-9947

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory