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Aliases for SLC6A11 Gene

Aliases for SLC6A11 Gene

  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 11 2 3
  • GAT3 3 4 6
  • Solute Carrier Family 6 (Neurotransmitter Transporter, GABA), Member 11 2 3
  • Solute Carrier Family 6 Member 11 3 4
  • GABA Transporter 3 2 3
  • GAT-3 3 4
  • GAT4 3 6
  • Sodium- And Chloride-Dependent GABA Transporter 3 3
  • GABT3 4

External Ids for SLC6A11 Gene

Previous GeneCards Identifiers for SLC6A11 Gene

  • GC03P010787
  • GC03P010832
  • GC03P010792

Summaries for SLC6A11 Gene

Entrez Gene Summary for SLC6A11 Gene

  • 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]

GeneCards Summary for SLC6A11 Gene

SLC6A11 (Solute Carrier Family 6 (Neurotransmitter Transporter), Member 11) is a Protein Coding gene. Diseases associated with SLC6A11 include pulmonary valve insufficiency and meconium aspiration syndrome. Among its related pathways are Metabolism and Metabolism of amino acids and derivatives. GO annotations related to this gene include neurotransmitter:sodium symporter activity and gamma-aminobutyric acid:sodium symporter activity. An important paralog of this gene is SLC6A4.

UniProtKB/Swiss-Prot for SLC6A11 Gene

  • Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals

Tocris Summary for SLC6A11 Gene

  • GABA transporters are sodium- and chloride-dependent members of the solute carrier family 6 (SLC6) that mediate the rapid removal of GABA and maintain low extracellular levels. Four 12-TM domain transporters (GAT-1, GAT-2, GAT-3 and BGT-1) have been identified and localized to neurons and glia. While GAT-1, GAT-2, GAT-3 and BGT-1 bind GABA with varying affinities, they share structural motifs including 12-TM domains, extracellular glycosylation sites and intracellular consensus sites for phosphorylation. A vesicular transporter (VGAT) has also been identified. This member of the SCL32 family is both structurally and functionally distinct, containing 10-TM domains and being found in GABAergic and glycinergic neurons. Some anticonvulsants have been reported to act upon the GABA transporters. There is evidence to suggest that GABA transporters are linked to epilepsy, affective disorders and schizophrenia.

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC6A11 Gene

Genomics for SLC6A11 Gene

Regulatory Elements for SLC6A11 Gene

Genomic Location for SLC6A11 Gene

Start:
10,816,200 bp from pter
End:
10,940,733 bp from pter
Size:
124,534 bases
Orientation:
Plus strand

Genomic View for SLC6A11 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC6A11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC6A11 Gene

Proteins for SLC6A11 Gene

  • Protein details for SLC6A11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48066-S6A11_HUMAN
    Recommended name:
    Sodium- and chloride-dependent GABA transporter 3
    Protein Accession:
    P48066
    Secondary Accessions:
    • B2R6U6
    • Q8IYC9

    Protein attributes for SLC6A11 Gene

    Size:
    632 amino acids
    Molecular mass:
    70606 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC6A11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC6A11 Gene

Proteomics data for SLC6A11 Gene at MOPED

Post-translational modifications for SLC6A11 Gene

  • Glycosylation at Asn187, Asn190, and Asn198
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC6A11 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC6A11 Gene

Domains for SLC6A11 Gene

Gene Families for SLC6A11 Gene

HGNC:
  • SLC :Solute carriers
IUPHAR :

Protein Domains for SLC6A11 Gene

Suggested Antigen Peptide Sequences for SLC6A11 Gene

Graphical View of Domain Structure for InterPro Entry

P48066

UniProtKB/Swiss-Prot:

S6A11_HUMAN :
  • P48066
Family:
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A11 subfamily.
genes like me logo Genes that share domains with SLC6A11: view

Function for SLC6A11 Gene

Molecular function for SLC6A11 Gene

UniProtKB/Swiss-Prot Function: Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals

Gene Ontology (GO) - Molecular Function for SLC6A11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004014 adenosylmethionine decarboxylase activity --
GO:0005328 neurotransmitter:sodium symporter activity IEA --
GO:0005332 gamma-aminobutyric acid:sodium symporter activity IEA --
GO:0042165 neurotransmitter binding IEA --
genes like me logo Genes that share ontologies with SLC6A11: view

Phenotypes for SLC6A11 Gene

genes like me logo Genes that share phenotypes with SLC6A11: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for SLC6A11 Gene

Localization for SLC6A11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC6A11 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC6A11 Gene COMPARTMENTS Subcellular localization image for SLC6A11 gene
Compartment Confidence
plasma membrane 4
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for SLC6A11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane TAS 1400419
genes like me logo Genes that share ontologies with SLC6A11: view

Pathways for SLC6A11 Gene

genes like me logo Genes that share pathways with SLC6A11: view

Pathways by source for SLC6A11 Gene

Interacting Proteins for SLC6A11 Gene

Gene Ontology (GO) - Biological Process for SLC6A11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006836 neurotransmitter transport --
GO:0007268 synaptic transmission TAS --
GO:0007269 neurotransmitter secretion TAS --
GO:0007420 brain development IEA --
GO:0008295 spermidine biosynthetic process --
genes like me logo Genes that share ontologies with SLC6A11: view

Compounds for SLC6A11 Gene

(5) Tocris Compounds for SLC6A11 Gene

Compound Action Cas Number
(S)-SNAP 5114 GABA uptake inhibitor [157604-55-2]
NNC 05-2090 hydrochloride GABA uptake inhibitor; moderately BGT-1 selective [184845-18-9]
NNC 711 Selective inhibitor of GAT-1 [145645-62-1]
SKF 89976A hydrochloride Potent GABA uptake inhibitor. Penetrates blood brain barrier [85375-15-1]
Tiagabine hydrochloride GABA uptake inhibitor; anticonvulsant [145821-59-6]

(1) HMDB Compounds for SLC6A11 Gene

Compound Synonyms Cas Number PubMed IDs
Sodium
  • Sodium
7440-23-5

(4) Novoseek inferred chemical compound relationships for SLC6A11 Gene

Compound -log(P) Hits PubMed IDs
tiagabine 79.6 1
gaba 77 20
beta-alanine 71.5 3
glutamate 27.7 2
genes like me logo Genes that share compounds with SLC6A11: view

Transcripts for SLC6A11 Gene

mRNA/cDNA for SLC6A11 Gene

Unigene Clusters for SLC6A11 Gene

Solute carrier family 6 (neurotransmitter transporter, GABA), member 11:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A11 Gene

No ASD Table

Relevant External Links for SLC6A11 Gene

GeneLoc Exon Structure for
SLC6A11
ECgene alternative splicing isoforms for
SLC6A11

Expression for SLC6A11 Gene

mRNA expression in normal human tissues for SLC6A11 Gene

mRNA differential expression in normal tissues according to GTEx for SLC6A11 Gene

This gene is overexpressed in Brain - Substantia nigra (8.3), Brain - Hypothalamus (7.4), and Brain - Nucleus accumbens (basal ganglia) (5.7).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for SLC6A11 Gene

SOURCE GeneReport for Unigene cluster for SLC6A11 Gene Hs.657405

mRNA Expression by UniProt/SwissProt for SLC6A11 Gene

P48066-S6A11_HUMAN
Tissue specificity: Widespread distribution in the brain
genes like me logo Genes that share expressions with SLC6A11: view

Orthologs for SLC6A11 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC6A11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC6A11 35
  • 99.31 (n)
  • 99.52 (a)
SLC6A11 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC6A11 35
  • 90.21 (n)
  • 93.33 (a)
SLC6A11 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC6A11 35
  • 91.27 (n)
  • 94.92 (a)
SLC6A11 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc6a11 35
  • 86.76 (n)
  • 94.26 (a)
Slc6a11 16
Slc6a11 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC6A11 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc6a11 35
  • 87.29 (n)
  • 94.42 (a)
chicken
(Gallus gallus)
Aves SLC6A11 35
  • 76.02 (n)
  • 89.35 (a)
SLC6A11 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC6A11 36
  • 89 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii SLC6A11 36
  • 82 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ine 37
  • 41 (a)
BG:DS03431.1 37
  • 36 (a)
CG7075 37
  • 35 (a)
CG4476 37
  • 35 (a)
CG1732 37
  • 52 (a)
CG10804 37
  • 38 (a)
CG5549 37
  • 40 (a)
CG1698 37
  • 36 (a)
CG8850 37
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea snf-8 37
  • 23 (a)
snf-3 37
  • 39 (a)
snf-5 37
  • 28 (a)
snf-9 37
  • 31 (a)
snf-11 37
  • 48 (a)
snf-6 37
  • 30 (a)
snf-2 37
  • 32 (a)
Species with no ortholog for SLC6A11:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SLC6A11 Gene

ENSEMBL:
Gene Tree for SLC6A11 (if available)
TreeFam:
Gene Tree for SLC6A11 (if available)

Paralogs for SLC6A11 Gene

Paralogs for SLC6A11 Gene

genes like me logo Genes that share paralogs with SLC6A11: view

Variants for SLC6A11 Gene

Sequence variations from dbSNP and Humsavar for SLC6A11 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs715148 -- 10,885,018(-) ATTCT(A/G)TTCAC intron-variant
rs736078 -- 10,930,925(+) TTCCG(C/T)CTTCT intron-variant
rs746278 -- 10,926,486(-) CTCTC(G/T)GAGAC intron-variant
rs746657 -- 10,930,901(+) GCGCT(G/T)GGGCT intron-variant
rs750173 -- 10,834,351(+) TTTTT(G/T)GTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC6A11 Gene

Variant ID Type Subtype PubMed ID
dgv809e201 CNV Deletion 23290073
nsv436362 CNV Deletion 17901297
nsv436869 CNV Insertion 17901297
esv4117 CNV Complex 18987735
nsv876533 CNV Loss 21882294
nsv3696 CNV Insertion 18451855
esv2657761 CNV Deletion 23128226
nsv522643 CNV Loss 19592680

Relevant External Links for SLC6A11 Gene

HapMap Linkage Disequilibrium report
SLC6A11
Human Gene Mutation Database (HGMD)
SLC6A11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC6A11 Gene

Disorders for SLC6A11 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for SLC6A11 Gene including...

Search for SLC6A11 Gene in MalaCards »

(2) University of Copenhagen DISEASES for SLC6A11 Gene

Relevant External Links for SLC6A11

Genetic Association Database (GAD)
SLC6A11
Human Genome Epidemiology (HuGE) Navigator
SLC6A11
genes like me logo Genes that share disorders with SLC6A11: view

No data available for UniProtKB/Swiss-Prot for SLC6A11 Gene

Publications for SLC6A11 Gene

  1. Cloning of the human homologue of the GABA transporter GAT-3 and identification of a novel inhibitor with selectivity for this site. (PMID: 7874447) Borden L.A. … Weinshank R.L. (Recept. Channels 1994) 2 3 4
  2. Pathway-based association analysis of genome-wide screening data suggest that genes associated with the gamma-aminobutyric acid receptor signaling pathway are involved in neuroleptic-induced, treatment-resistant tardive dyskinesia. (PMID: 18334916) Inada T. … Arinami T. (Pharmacogenet. Genomics 2008) 3 48
  3. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PMID: 19086053) GratacA^s M. … Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 48
  4. Genetical genomic determinants of alcohol consumption in rats and humans. (PMID: 19874574) Tabakoff B. … Hoffman P.L. (BMC Biol. 2009) 3 48
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48

Products for SLC6A11 Gene

Sources for SLC6A11 Gene

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