SLC6A11 solute carrier family 6 (neurotransmitter transporter, GABA), member 11 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: SLC6A11provided by HGNC
Official Full Name: solute carrier family 6 (neurotransmitter transporter, GABA), member 11provided by HGNC
Primary source: HGNC:11044
See related: HPRD:06406; MIM:607952
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GAT3; GAT4; GAT-3
Summary: Gamma-aminobutyric acid (GABA) is a major inhibitory neurotransmitter. GABAergic neurotransmission is terminated by the uptake of GABA into the presynaptic terminal and the surrounding astroglial cells by sodium-dependent transporters, such as SLC6A11 (Borden et al., 1994 [PubMed 7874447]).[supplied by OMIM, Nov 2010]

Genomic context

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Location :: 3p25.3

Sequence :: Chromosome: 3; NC_000003.11 (10857917..10980146)

See SLC6A11 in Epigenomics, MapViewer

Chromosome 3 - NC_000003.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

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Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

The results suggest that GAT3 c.1572T may be one of the contributing factors with a modest effect on antiepileptic drug (AEDs) pharmacoresistance in the epileptic brain.
Title: Association of a synonymous GAT3 polymorphism with antiepileptic drug pharmacoresistance.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
homology models of hGAT-2 and hGAT-3 were built and searched for (i) substrate conformation, (ii) prediction of substrate (inhibitor) interaction, and (iii) distinguishable allosteric Zn2+ inhibition by combining docking and MD calculations.
Title: Substrate-Na+ complex formation: coupling mechanism for gamma-aminobutyrate symporters.
Observational study of gene-disease association. (HuGE Navigator)
Title: L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.

Pathways from BioSystems

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GABA synthesis, release, reuptake and degradation, organism-specific biosystem (from REACTOME)
GABA synthesis, release, reuptake and degradation, organism-specific biosystemGABA is a major inhibitory neurotransmitter in the mammalian central nervous system. GABA modulates neuronal excitability throughout the nervous system. Disruption of GABA neurotransmission leads to ...
GABAergic synapse, organism-specific biosystem (from KEGG)
GABAergic synapse, organism-specific biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
GABAergic synapse, conserved biosystem (from KEGG)
GABAergic synapse, conserved biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
Na+/Cl- dependent neurotransmitter transporters, organism-specific biosystem (from REACTOME)
Na+/Cl- dependent neurotransmitter transporters, organism-specific biosystemThe SLC6 gene family encodes proteins that mediate neurotransmitter uptake thus terminating a synaptic signal. The proteins mediate transport of GABA (gamma-aminobutyric acid), norepinephrine, dopami...
Neuronal System, organism-specific biosystem (from REACTOME)
Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
Neurotransmitter Release Cycle, organism-specific biosystemNeurotransmitter is stored in the synaptic vesicle in the pre-synaptic terminal prior to its release in the synaptic cleft upon depolarization of the pre-synaptic membrane. The release of the neurotr...
Reuptake of GABA, organism-specific biosystem (from REACTOME)
Reuptake of GABA, organism-specific biosystemReuptake of GABA from the synapse terminates the action of GABA thus regulating GABA action. GABA taken up from the synapse into the neurons is reused for synaptic loading. GABA taken up by astrocyte...
SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
Transmembrane transport of small molecules, organism-specific biosystem
Transmembrane transport of small molecules
Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds, organism-specific biosystem (from REACTOME)
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds, organism-specific biosystemHexoses like glucose, galactose and fructose serve as basic fuel molecules for eukaryotic cells. Indeed, glucose is the main energy source for mammalian cells. These sugars are unable to diffuse acro...

General gene information

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Markers

SHGC-145517 (e-PCR)
- UniSTS:174623

SHGC-141816 (e-PCR)
- UniSTS:171094

RH18458 (e-PCR)
- UniSTS:55920

SHGC-144538 (e-PCR)
- UniSTS:174274

SHGC-36836 (e-PCR)
- UniSTS:83436

G19637 (e-PCR)
- UniSTS:41966

A001T39 (e-PCR)
- UniSTS:41967

Homology

Homologs of the SLC6A11 gene: The SLC6A11 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and chicken.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
gamma-aminobutyric acid:sodium symporter activity	IEA Inferred from Electronic Annotation more info
neurotransmitter binding	IEA Inferred from Electronic Annotation more info
neurotransmitter:sodium symporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
brain development	IEA Inferred from Electronic Annotation more info
neurotransmitter secretion	TAS Traceable Author Statement more info
response to drug	IEA Inferred from Electronic Annotation more info
synaptic transmission	TAS Traceable Author Statement more info
transmembrane transport	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cell projection	IEA Inferred from Electronic Annotation more info
cytoplasm	IEA Inferred from Electronic Annotation more info
integral to membrane	TAS Traceable Author Statement more info	PubMed
integral to plasma membrane	IEA Inferred from Electronic Annotation more info
plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: sodium- and chloride-dependent GABA transporter 3

Names: sodium- and chloride-dependent GABA transporter 3; solute carrier family 6 member 11

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_014229.1 → NP_055044.1 sodium- and chloride-dependent GABA transporter 3

Status: PROVISIONAL

Source sequence(s)

S75989

Consensus CDS

CCDS2602.1

UniProtKB/Swiss-Prot

P48066

Conserved Domains (1) summary

cd11508
Location:49 – 590
Blast Score: 2766

SLC6sbd_GAT3; Na(+)- and Cl(-)-dependent GABA transporter 3; solute-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000003.11 Reference GRCh37.p10 Primary Assembly

Range

10857917..10980146

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000135.1 Alternate HuRef

Range

10792720..10914941

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018914.1 Alternate CHM1_1.0

Range

10793699..10915971

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GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01025230.1 (54126..176347)	None
genomic	AC018495.5 (141206..173585)	None
genomic	AC027128.5 (76886..166735)	None
genomic	AMYH01012972.1 (4414..64896)	None
genomic	AMYH01012973.1	None
genomic	CH471055.1	EAW64086.1
		EAW64087.1
genomic	CS409836.1	CAL40956.1
mRNA	AK312719.1	BAG35593.1
mRNA	BC036083.1	AAH36083.1
mRNA	S75989.1	AAB33570.1
other-genetic	BC152735.1	AAI52736.1