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Aliases for SLC6A11 Gene

Aliases for SLC6A11 Gene

  • Solute Carrier Family 6 Member 11 2 3 4 5
  • Solute Carrier Family 6 (Neurotransmitter Transporter, GABA), Member 11 2 3
  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 11 2 3
  • GABA Transporter 3 2 3
  • GAT-3 3 4
  • GAT3 3 4
  • Sodium- And Chloride-Dependent GABA Transporter 3 3
  • GABT3 4
  • GAT4 3

External Ids for SLC6A11 Gene

Previous GeneCards Identifiers for SLC6A11 Gene

  • GC03P010787
  • GC03P010832
  • GC03P010792

Summaries for SLC6A11 Gene

Entrez Gene Summary for SLC6A11 Gene

  • The protein encoded by this gene is a sodium-dependent transporter that uptakes gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, which ends the GABA neurotransmission. Defects in this gene may result in epilepsy, behavioral problems, or intellectual problems. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

GeneCards Summary for SLC6A11 Gene

SLC6A11 (Solute Carrier Family 6 Member 11) is a Protein Coding gene. Diseases associated with SLC6A11 include Tricuspid Valve Stenosis and Pulmonary Valve Insufficiency. Among its related pathways are Metabolism and Transmission across Chemical Synapses. 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 SLC6A13.

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 have been identified and localized to neurons and glia.

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

Enhancers for SLC6A11 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F010845 0.5 Ensembl 16.2 +30.1 30136 1.1 TCF7 EBF1 MAFK SLC6A11 LOC105376950
GH03F010955 0.7 ENCODE 10.3 +140.2 140208 2.5 GATAD2A NFIA NR2F1 CEBPB CEBPG ZIC2 RAD21 YY1 NR2F2 ATF3 SLC6A1 SLC6A1-AS1 SLC6A11 LOC105376950
GH03F011154 1.2 FANTOM5 ENCODE 2.1 +338.9 338881 2.0 PKNOX1 SIN3A FEZF1 RAD21 GLIS2 ZNF366 ZNF143 RCOR1 FOS DEK SLC6A1 HRH1 SLC6A11 VGLL4 LOC105376951 LOC102723663
GH03F010994 0.3 FANTOM5 3.8 +178.3 178318 0.2 SLC6A1 ATP2B2 SLC6A11 SLC6A1-AS1
GH03F010803 0.6 ENCODE 0.4 -11.8 -11771 2.2 ZNF217 PKNOX1 CTBP1 TCF7 DPF2 FOS MAFK SLC6A1 SLC6A1-AS1 SLC6A11 ENSG00000230599
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC6A11 on UCSC Golden Path with GeneCards custom track

Promoters for SLC6A11 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001357235 0 401 TBP DRAP1 RNF2 POLR2A ZBTB8A DMAP1

Genomic Location for SLC6A11 Gene

Chromosome:
3
Start:
10,816,200 bp from pter
End:
10,941,471 bp from pter
Size:
125,272 bases
Orientation:
Plus strand

Genomic View for SLC6A11 Gene

Genes around SLC6A11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC6A11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for SLC6A11 Gene

  • Glycosylation at Asn 187, Asn 190, and Asn 198
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC6A11 Gene

No data available for DME Specific Peptides for SLC6A11 Gene

Domains & Families for SLC6A11 Gene

Gene Families for SLC6A11 Gene

HGNC:
IUPHAR :

Suggested Antigen Peptide Sequences for SLC6A11 Gene

Graphical View of Domain Structure for InterPro Entry

P48066

UniProtKB/Swiss-Prot:

S6A11_HUMAN :
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A11 subfamily.
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:0005328 neurotransmitter:sodium symporter activity IEA --
GO:0005332 gamma-aminobutyric acid:sodium symporter activity TAS --
GO:0015293 symporter activity IEA --
GO:0042165 neurotransmitter binding IEA --
genes like me logo Genes that share ontologies with SLC6A11: view
genes like me logo Genes that share phenotypes with SLC6A11: view

Animal Models for SLC6A11 Gene

MGI Knock Outs for SLC6A11:

Animal Model Products

miRNA for SLC6A11 Gene

miRTarBase miRNAs that target SLC6A11

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC6A11 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytosol 2
cytoskeleton 1
mitochondrion 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 IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS 1400419
genes like me logo Genes that share ontologies with SLC6A11: view

Pathways & Interactions 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

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000254488%0d%0a9606.ENSP00000378965%0d%0a9606.ENSP00000376178%0d%0a9606.ENSP00000222812%0d%0a9606.ENSP00000215095%0d%0a9606.ENSP00000297494%0d%0a
Selected Interacting proteins: P48066-S6A11_HUMAN ENSP00000254488 for SLC6A11 Gene via IID STRING

Gene Ontology (GO) - Biological Process for SLC6A11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006836 neurotransmitter transport IBA --
GO:0007268 chemical synaptic transmission IBA --
GO:0007420 brain development IEA --
GO:0015812 gamma-aminobutyric acid transport IBA --
genes like me logo Genes that share ontologies with SLC6A11: view

No data available for SIGNOR curated interactions for SLC6A11 Gene

Drugs & Compounds for SLC6A11 Gene

(8) Drugs for SLC6A11 Gene - From: DrugBank, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Clobazam Approved, Illicit Pharma Transporter, Other 20
Guvacine Experimental Pharma Target, inhibitor 0
(S)-SNAP 5114 Pharma GABA uptake inhibitor 0
CI 966 hydrochloride Pharma Selective inhibitor of GAT-1 0
NNC 05-2090 hydrochloride Pharma GABA uptake inhibitor; moderately BGT-1 selective 0

(4) Additional Compounds for SLC6A11 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
Tiagabine hydrochloride
145821-59-6

(5) Tocris Compounds for SLC6A11 Gene

Compound Action Cas Number
(S)-SNAP 5114 GABA uptake inhibitor 157604-55-2
CI 966 hydrochloride Selective inhibitor of GAT-1 110283-66-4
NNC 05-2090 hydrochloride GABA uptake inhibitor; moderately BGT-1 selective 184845-18-9
NNC 711 Selective inhibitor of GAT-1 145645-62-1
Tiagabine hydrochloride GABA uptake inhibitor; anticonvulsant 145821-59-6
genes like me logo Genes that share compounds with SLC6A11: view

Transcripts for SLC6A11 Gene

Unigene Clusters for SLC6A11 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for SLC6A11 Gene

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

This gene is overexpressed in Brain - Substantia nigra (x8.3), Brain - Hypothalamus (x7.4), and Brain - Nucleus accumbens (basal ganglia) (x5.7).

Protein differential expression in normal tissues from HIPED for SLC6A11 Gene

This gene is overexpressed in Fetal Brain (32.1), Frontal cortex (11.2), and Retina (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC6A11 Gene



Protein tissue co-expression partners for SLC6A11 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC6A11 Gene:

SLC6A11

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 expression patterns with SLC6A11: view

Primer Products

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 34 35
  • 99.31 (n)
dog
(Canis familiaris)
Mammalia SLC6A11 34 35
  • 91.27 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC6A11 35
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC6A11 34 35
  • 90.21 (n)
rat
(Rattus norvegicus)
Mammalia Slc6a11 34
  • 87.29 (n)
mouse
(Mus musculus)
Mammalia Slc6a11 34 16 35
  • 86.76 (n)
chicken
(Gallus gallus)
Aves SLC6A11 34 35
  • 76.02 (n)
lizard
(Anolis carolinensis)
Reptilia SLC6A11 35
  • 89 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii SLC6A11 35
  • 82 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1732 36
  • 52 (a)
ine 36
  • 41 (a)
CG5549 36
  • 40 (a)
CG10804 36
  • 38 (a)
CG8850 36
  • 37 (a)
BG:DS03431.1 36
  • 36 (a)
CG1698 36
  • 36 (a)
CG4476 36
  • 35 (a)
CG7075 36
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea snf-11 36
  • 48 (a)
snf-3 36
  • 39 (a)
snf-2 36
  • 32 (a)
snf-9 36
  • 31 (a)
snf-6 36
  • 30 (a)
snf-5 36
  • 28 (a)
snf-8 36
  • 23 (a)
Species where no ortholog for SLC6A11 was found in the sources mined by GeneCards:
  • 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

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
rs10049075 -- 10,824,617(+) tcttt(C/G)ctcaa intron-variant, utr-variant-3-prime
rs10049203 -- 10,824,866(+) tatca(C/T)ataac intron-variant, utr-variant-3-prime
rs10049332 -- 10,824,570(+) TTGTG(A/T)TACTG intron-variant, utr-variant-3-prime
rs111210222 -- 10,873,807(+) CCTAT(C/G)CTATC intron-variant
rs111210223 -- 10,873,812(+) GCTAT(C/G)CTATC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv762e201 CNV deletion 23290073
esv2657761 CNV deletion 23128226
esv3595282 CNV loss 21293372
esv3595283 CNV loss 21293372
esv3595284 CNV loss 21293372
esv4117 OTHER complex 18987735
nsv1003810 CNV gain 25217958
nsv1073204 CNV deletion 25765185
nsv1118962 CNV deletion 24896259
nsv1121603 CNV deletion 24896259
nsv3696 CNV insertion 18451855
nsv436362 CNV deletion 17901297
nsv436869 CNV insertion 17901297
nsv476634 CNV novel sequence insertion 20440878
nsv522643 CNV loss 19592680
nsv998764 CNV gain 25217958

Variation tolerance for SLC6A11 Gene

Residual Variation Intolerance Score: 15.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.92; 48.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC6A11 Gene

Human Gene Mutation Database (HGMD)
SLC6A11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC6A11

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

Disorders for SLC6A11 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SLC6A11 Gene - From: DISEASES

Disorder Aliases PubMed IDs
tricuspid valve stenosis
  • tricuspid stenosis
pulmonary valve insufficiency
  • pulmonary incompetence
pulmonary valve disease
  • pulmonary valve disorder
glaucoma 1, open angle, e
  • primary open angle glaucoma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC6A11

Genetic Association Database (GAD)
SLC6A11
Human Genome Epidemiology (HuGE) Navigator
SLC6A11
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC6A11
genes like me logo Genes that share disorders with SLC6A11: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 64
  2. Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. (PMID: 22491018) Wang J. … Platt A. (Pharmacogenomics J. 2013) 3 46 64
  3. 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 46 64
  4. 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. (PMID: 20424473) Yokoyama K. … Hosoya T. (Nephron Clin Pract 2010) 3 46 64
  5. 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 46 64

Products for SLC6A11 Gene

Sources for SLC6A11 Gene

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