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

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 transmembrane transporter activity. Involved in gamma-aminobutyric acid import. Located in axon; neuronal cell body; and plasma membrane. Is expressed in several structures, including heart; nervous system; respiratory system; sensory organ; and skeleton. Used to study schizophrenia. Orthologous to human SLC6A1 (solute carrier family 6 member 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cerebellum adult (RPKM 126.5), frontal lobe adult (RPKM 110.5) and 5 other tissues See more
Orthologs: human all
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Genomic context

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_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PDZ interaction of the GABA transporter GAT1 with the syntenin-1 in Neuro-2a cells.
Title: PDZ interaction of the GABA transporter GAT1 with the syntenin-1 in Neuro-2a cells.
Environmental enrichment implies GAT-1 as a potential therapeutic target for stroke recovery.
Title: Environmental enrichment implies GAT-1 as a potential therapeutic target for stroke recovery.
Microglial expression of GAT-1 in the cerebral cortex.
Title: Microglial expression of GAT-1 in the cerebral cortex.
GABA uptake transporters support dopamine release in dorsal striatum with maladaptive downregulation in a parkinsonism model.
Title: GABA uptake transporters support dopamine release in dorsal striatum with maladaptive downregulation in a parkinsonism model.
the expression of inhibitory neurotransmitter transporters GlyT1, GAT-1, and GAT-3 in inferior colliculus and hippocampus astrocytes, was examined.
Title: Expression of functional inhibitory neurotransmitter transporters GlyT1, GAT-1, and GAT-3 by astrocytes of inferior colliculus and hippocampus.
Results demonstrated that GAT-1-/- mice have phenotypes of hyperactivity, impaired sustained attention and learning deficiency, and the performance of GAT-1-/- mice is similar to ADHD symptoms.
Title: Hyperactivity and impaired attention in Gamma aminobutyric acid transporter subtype 1 gene knockout mice.
Results suggest that the excessive GAT-1 and GlyT-1/2 heterotransporter-mediated Glu release, in the spinal cord of SOD1(G93A) mice, is due to the heterotransporter over-expression at the nerve terminal membrane, promoted by the excessive Glu exocytosis
Title: Exocytosis regulates trafficking of GABA and glycine heterotransporters in spinal cord glutamatergic synapses: a mechanism for the excessive heterotransporter-induced release of glutamate in experimental amyotrophic lateral sclerosis.
Results demonstrate that high-affinity activation by GABA of GAT1 transporters provokes release of [3H]GABA from nerve terminals by different mechanisms
Title: High-affinity GABA uptake by neuronal GAT1 transporters provokes release of [(3)H]GABA by homoexchange and through GAT1-independent Ca(2+)-mediated mechanisms.
these data show that during paclitaxel-induced neuropathic pain there is significant increase in GAT-1 expression in the ACC. GAT-1 is the main transporter of GABA from the synapse
Title: Comprehensive analysis of the GABAergic system gene expression profile in the anterior cingulate cortex of mice with Paclitaxel-induced neuropathic pain.
Development of GABA-removal system and its relationship to development of GABAergic networks studied by examination of changes in GAT-1 and GAT-3 expression and localization in embryonic and postnatal mouse spinal cord
Title: Characteristic development of the GABA-removal system in the mouse spinal cord.

Submit: New GeneRIF Correction See all GeneRIFs (36)

Variation

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Alleles

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

Endonuclease-mediated (7) 1 citation
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Gabt1 (e-PCR), detects polymorphism
- UniSTS:143155

Slc6a1 (e-PCR), detects polymorphism
- UniSTS:525658

Slc6a1 (e-PCR), detects polymorphism
- UniSTS:507230

D6Mit55 (e-PCR), detects polymorphism
- UniSTS:130957

Slc6a1 (e-PCR), detects polymorphism
- UniSTS:531382

Slc6a1 (e-PCR), detects polymorphism
- UniSTS:546018

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables amino acid:sodium symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables gamma-aminobutyric acid transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables gamma-aminobutyric acid:sodium:chloride symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables gamma-aminobutyric acid:sodium:chloride symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables gamma-aminobutyric acid:sodium:chloride symporter activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables sodium:chloride symporter activity	ISO Inferred from Sequence Orthology more info
enables symporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
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
acts_upstream_of_or_within neurotransmitter transport	IEA Inferred from Electronic Annotation more info
involved_in neurotransmitter transport	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gamma-aminobutyric acid secretion	ISO Inferred from Sequence Orthology more info
involved_in response to inorganic substance	ISO Inferred from Sequence Orthology more info
involved_in response to organic substance	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
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
located_in cell projection	IEA Inferred from Electronic Annotation more info
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 membrane	IEA Inferred from Electronic Annotation 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	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in presynaptic membrane	ISO Inferred from Sequence Orthology more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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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)

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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)

NM_178703.5 → NP_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:2 → 599

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

NC_000072.7 Reference GRCm39 C57BL/6J

Range

114259735..114294491

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036166059.1 → XP_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:1 → 350

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain