Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SLC6A11 Gene

Aliases for SLC6A11 Gene

  • Solute Carrier Family 6 Member 11 2 3 4
  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 11 2 3 5
  • Solute Carrier Family 6 (Neurotransmitter Transporter, GABA), Member 11 2 3
  • GABA Transporter 3 2 3
  • GAT-3 3 4
  • GAT3 3 4
  • 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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. 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 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

Promoters for SLC6A11 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC6A11 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for SLC6A11 Gene at MOPED

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

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SLC6A11 Gene

Domains & Families for SLC6A11 Gene

Gene Families for SLC6A11 Gene

HGNC:
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 :
  • 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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for SLC6A11 Gene COMPARTMENTS Subcellular localization image for SLC6A11 gene
Compartment Confidence
plasma membrane 5
cytosol 2
extracellular 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SLC6A11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0042995 cell projection IEA --
GO:0043005 neuron projection IBA --
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

Interacting Proteins for SLC6A11 Gene

Gene Ontology (GO) - Biological Process for SLC6A11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055085 transmembrane transport IEA,TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Clobazam Approved, Illicit Pharma Transporter, Other 19
beta-Alanine Experimental Pharma Full agonist, Agonist Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) 0
Guvacine Experimental Pharma Target, inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
(+-)-Nipecotic acid
60252-41-7
Guvacine hydrochloride
6027-91-4
Riluzole hydrochloride
850608-87-6
TACA
38090-53-8

(5) Tocris Compounds for SLC6A11 Gene

Compound Action Cas Number
(+-)-Nipecotic acid GABA uptake inhibitor 60252-41-7
beta-Alanine Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) 107-95-9
Guvacine hydrochloride Specific GABA uptake inhibitor 6027-91-4
Riluzole hydrochloride Glutamate release inhibitor/GABA uptake inhibitor 850608-87-6
TACA GABAA agonist. Also GABA-T substrate and GABA uptake inhibitor 38090-53-8
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:

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 (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, 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 expression patterns with SLC6A11: view

Protein tissue co-expression partners for SLC6A11 Gene

- Elite partner

Primer Products

In Situ Assay 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
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
chimpanzee
(Pan troglodytes)
Mammalia SLC6A11 35
  • 99.31 (n)
  • 99.52 (a)
SLC6A11 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc6a11 35
  • 87.29 (n)
  • 94.42 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC6A11 36
  • 91 (a)
OneToOne
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 BG:DS03431.1 37
  • 36 (a)
CG10804 37
  • 38 (a)
CG1698 37
  • 36 (a)
CG1732 37
  • 52 (a)
CG4476 37
  • 35 (a)
CG5549 37
  • 40 (a)
CG7075 37
  • 35 (a)
CG8850 37
  • 37 (a)
ine 37
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea snf-11 37
  • 48 (a)
snf-2 37
  • 32 (a)
snf-3 37
  • 39 (a)
snf-5 37
  • 28 (a)
snf-6 37
  • 30 (a)
snf-8 37
  • 23 (a)
snf-9 37
  • 31 (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

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
rs715148 -- 10,885,018(-) ATTCT(A/G)TTCAC intron-variant
rs736078 -- 10,930,925(+) TTCCG(C/T)CTTCT intron-variant
rs876645 -- 10,835,773(+) TGACA(C/T)GTCTT 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

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

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

(5) 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
neovascular glaucoma
  • secondary angle-closure glaucoma with rubeosis
globe disease
- 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 67
  2. Gaba transporter SLC6A11 gene polymorphism associated with tardive dyskinesia. (PMID: 23795861) Son W.Y. … Kim L. (Nord J Psychiatry 2014) 3
  3. Genome-wide interrogation of longitudinal FEV1 in children with asthma. (PMID: 25221879) Wu K. … Huang R.S. (Am. J. Respir. Crit. Care Med. 2014) 3
  4. 3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior. (PMID: 25256099) Dikow N. … Moog U. (Am. J. Med. Genet. A 2014) 3
  5. 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

Products for SLC6A11 Gene

Sources for SLC6A11 Gene

Back to Top

Content