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Aliases for SLC6A1 Gene

Aliases for SLC6A1 Gene

  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 1 2 3
  • GABATR 3 4 6
  • Solute Carrier Family 6 (Neurotransmitter Transporter, GABA), Member 1 2 3
  • Solute Carrier Family 6 Member 1 3 4
  • GABA Transporter 1 2 3
  • GAT-1 3 4
  • GAT1 3 4
  • Sodium- And Chloride-Dependent GABA Transporter 1 3
  • GABATHG 3
  • GABT1 4

External Ids for SLC6A1 Gene

Previous GeneCards Identifiers for SLC6A1 Gene

  • GC03P010986

Summaries for SLC6A1 Gene

Entrez Gene Summary for SLC6A1 Gene

  • The SLC6A1 gene encodes a gamma-aminobutyric acid (GABA) transporter, which removes GABA from the synaptic cleft (Hirunsatit et al., 2009 [PubMed 19077666]).[supplied by OMIM, Jul 2009]

GeneCards Summary for SLC6A1 Gene

SLC6A1 (Solute Carrier Family 6 (Neurotransmitter Transporter), Member 1) is a Protein Coding gene. Diseases associated with SLC6A1 include female stress incontinence and schizophrenia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 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 SLC6A4.

UniProtKB/Swiss-Prot for SLC6A1 Gene

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

Tocris Summary for SLC6A1 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.

Gene Wiki entry for SLC6A1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC6A1 Gene

Genomics for SLC6A1 Gene

Regulatory Elements for SLC6A1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SLC6A1 Gene

Start:
10,992,724 bp from pter
End:
11,039,249 bp from pter
Size:
46,526 bases
Orientation:
Plus strand

Genomic View for SLC6A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC6A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC6A1 Gene

Proteins for SLC6A1 Gene

  • Protein details for SLC6A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P30531-SC6A1_HUMAN
    Recommended name:
    Sodium- and chloride-dependent GABA transporter 1
    Protein Accession:
    P30531
    Secondary Accessions:
    • Q8N4K8

    Protein attributes for SLC6A1 Gene

    Size:
    599 amino acids
    Molecular mass:
    67074 Da
    Quaternary structure:
    • Interacts with MPP5.
    Miscellaneous:
    • This protein is the target of psychomotor stimulants such as amphetamines or cocaine

neXtProt entry for SLC6A1 Gene

Proteomics data for SLC6A1 Gene at MOPED

Post-translational modifications for SLC6A1 Gene

  • Glycosylation at Asn176, Asn181, and Asn184
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC6A1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SLC6A1 Gene

Domains for SLC6A1 Gene

Gene Families for SLC6A1 Gene

HGNC:
  • SLC :Solute carriers
IUPHAR :

Protein Domains for SLC6A1 Gene

Suggested Antigen Peptide Sequences for SLC6A1 Gene

Graphical View of Domain Structure for InterPro Entry

P30531

UniProtKB/Swiss-Prot:

SC6A1_HUMAN :
  • P30531
Domain:
  • The PDZ domain-binding motif is involved in the interaction with MPP5
Family:
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A1 subfamily.
genes like me logo Genes that share domains with SLC6A1: view

Function for SLC6A1 Gene

Molecular function for SLC6A1 Gene

GENATLAS Biochemistry:
solute carrier family 6,member A1,neurotransmitter transporter,GABA,see COLOT1
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 SLC6A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005328 neurotransmitter:sodium symporter activity IEA --
GO:0005332 gamma-aminobutyric acid:sodium symporter activity IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with SLC6A1: view
genes like me logo Genes that share phenotypes with SLC6A1: view

Animal Models for SLC6A1 Gene

MGI Knock Outs for SLC6A1:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC6A1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for SLC6A1 Gene

Localization for SLC6A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC6A1 Gene

Cell membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein. Note=Localized at the plasma membrane and in a subset of intracellular vesicles. Localized at the presynaptic terminals of interneurons (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC6A1 Gene COMPARTMENTS Subcellular localization image for SLC6A1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC6A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0009986 cell surface IEA --
GO:0016020 membrane TAS 2387399
GO:0016021 integral component of membrane TAS 8530094
genes like me logo Genes that share ontologies with SLC6A1: view

Pathways for SLC6A1 Gene

genes like me logo Genes that share pathways with SLC6A1: view

Pathways by source for SLC6A1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for SLC6A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport NAS 8530094
GO:0006836 neurotransmitter transport --
GO:0007268 synaptic transmission TAS --
GO:0007269 neurotransmitter secretion TAS --
GO:0007612 learning IEA --
genes like me logo Genes that share ontologies with SLC6A1: view

Compounds for SLC6A1 Gene

(1) HMDB Compounds for SLC6A1 Gene

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

(3) Drugbank Compounds for SLC6A1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Clobazam
  • Aedon
22316-47-8 transporter Other
Guvacine
498-96-4 target inhibitor
Tiagabine
  • Tiagabina [INN-Spanish]
115103-54-3 target inhibitor

(8) IUPHAR Ligand for SLC6A1 Gene

Ligand Type Action Affinity Pubmed IDs
tiagabine Inhibitor Inhibition 7
NNC-711 Inhibitor Inhibition 6.9
SKF89976A Inhibitor Inhibition 6.9
CI-966 Inhibitor Inhibition 6.6
(R/S) EF-1500 Inhibitor Inhibition 4.9
LU32-176B Inhibitor Inhibition 4
[3H]tiagabine None None
(R/S)-EF-1502 Inhibitor Inhibition

(15) Novoseek inferred chemical compound relationships for SLC6A1 Gene

Compound -log(P) Hits PubMed IDs
gaba 87.8 108
tiagabine 84.2 10
sk&f-89976a 79.8 1
nipecotic acid 72.5 1
glutamate 42.4 7
genes like me logo Genes that share compounds with SLC6A1: view

Transcripts for SLC6A1 Gene

Unigene Clusters for SLC6A1 Gene

Solute carrier family 6 (neurotransmitter transporter, GABA), member 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC6A1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A1 Gene

No ASD Table

Relevant External Links for SLC6A1 Gene

GeneLoc Exon Structure for
SLC6A1
ECgene alternative splicing isoforms for
SLC6A1

Expression for SLC6A1 Gene

mRNA expression in normal human tissues for SLC6A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC6A1 Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (5.2), Brain - Putamen (basal ganglia) (4.8), Brain - Amygdala (4.8), Brain - Caudate (basal ganglia) (4.7), Brain - Frontal Cortex (BA9) (4.3), and Brain - Nucleus accumbens (basal ganglia) (4.2).

Protein differential expression in normal tissues for SLC6A1 Gene

This gene is overexpressed in Frontal cortex (43.6) and Retina (16.3).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for SLC6A1 Gene

SOURCE GeneReport for Unigene cluster for SLC6A1 Gene Hs.443874

genes like me logo Genes that share expressions with SLC6A1: view

Expression partners for SLC6A1 Gene

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for SLC6A1 Gene

Orthologs for SLC6A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC6A1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC6A1 35
  • 91.99 (n)
  • 97.66 (a)
SLC6A1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC6A1 35
  • 93.43 (n)
  • 99 (a)
SLC6A1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc6a1 35
  • 90.21 (n)
  • 98 (a)
Slc6a1 16
Slc6a1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC6A1 35
  • 98.38 (n)
  • 98.66 (a)
SLC6A1 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc6a1 35
  • 90.09 (n)
  • 98 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC6A1 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC6A1 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC6A1 35
  • 78.82 (n)
  • 93.31 (a)
SLC6A1 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC6A1 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100127682 35
  • 77.85 (n)
  • 90.32 (a)
zebrafish
(Danio rerio)
Actinopterygii slc6a1b 35
  • 77.2 (n)
  • 85.28 (a)
slc6a1a 36
  • 73 (a)
OneToMany
slc6a1b 36
  • 85 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta BG:DS03431.1 37
  • 35 (a)
CG10804 37
  • 38 (a)
CG1732 37
  • 59 (a)
CG3252 37
  • 34 (a)
CG4476 37
  • 34 (a)
CG5549 37
  • 41 (a)
CG7075 37
  • 34 (a)
ine 37
  • 40 (a)
SerT 37
  • 46 (a)
CG1732 35
  • 58.41 (n)
  • 59.12 (a)
CG1732 36
  • 54 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009768 35
  • 30.6 (n)
  • 16 (a)
worm
(Caenorhabditis elegans)
Secernentea snf-1 37
  • 23 (a)
snf-11 37
  • 50 (a)
snf-12 37
  • 30 (a)
snf-3 37
  • 41 (a)
snf-4 37
  • 31 (a)
snf-5 37
  • 28 (a)
snf-6 37
  • 30 (a)
snf-8 37
  • 23 (a)
snf-9 37
  • 31 (a)
snf-11 35
  • 56.28 (n)
  • 54.35 (a)
snf-11 36
  • 49 (a)
OneToMany
Species with no ortholog for SLC6A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for SLC6A1 Gene

ENSEMBL:
Gene Tree for SLC6A1 (if available)
TreeFam:
Gene Tree for SLC6A1 (if available)

Paralogs for SLC6A1 Gene

Paralogs for SLC6A1 Gene

genes like me logo Genes that share paralogs with SLC6A1: view

Variants for SLC6A1 Gene

Sequence variations from dbSNP and Humsavar for SLC6A1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs6341 -- 11,025,603(+) CAGCC(C/T)GGATT intron-variant
rs6344 -- 11,022,405(+) ATCAC(A/G/T)CTGGC synonymous-codon, reference
rs1062237 -- 11,037,191(+) TGACC(A/T)TTTTA utr-variant-3-prime
rs1062246 -- 11,038,483(+) CTCAC(A/G)TGTGG utr-variant-3-prime
rs1062616 -- 11,037,072(+) AGTGG(C/T)GAGTC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SLC6A1 Gene

Variant ID Type Subtype PubMed ID
dgv809e201 CNV Deletion 23290073
nsv436362 CNV Deletion 17901297
nsv436869 CNV Insertion 17901297
esv4117 CNV Complex 18987735
nsv876534 CNV Loss 21882294
nsv508209 CNV Loss 20534489
nsv518622 CNV Loss 19592680

Relevant External Links for SLC6A1 Gene

HapMap Linkage Disequilibrium report
SLC6A1
Human Gene Mutation Database (HGMD)
SLC6A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC6A1 Gene

Disorders for SLC6A1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for SLC6A1 Gene in MalaCards »

(2) Diseases for SLC6A1 Gene including...

(3) University of Copenhagen DISEASES for SLC6A1 Gene

(4) Novoseek inferred disease relationships for SLC6A1 Gene

Disease -log(P) Hits PubMed IDs
epilepsy 42.2 2
schizophrenia 37.8 6
sclerosis 31.6 1
psychiatric disorder 4.64 1

Relevant External Links for SLC6A1

Genetic Association Database (GAD)
SLC6A1
Human Genome Epidemiology (HuGE) Navigator
SLC6A1
genes like me logo Genes that share disorders with SLC6A1: view

No data available for OMIM , UniProtKB/Swiss-Prot and Genatlas for SLC6A1 Gene

Publications for SLC6A1 Gene

  1. The GABA transporter 1 (SLC6A1): a novel candidate gene for anxiety disorders. (PMID: 18607529) Thoeringer C.K. … Erhardt A. (J Neural Transm 2009) 3 23 48
  2. Sequence variation and linkage disequilibrium in the GABA transporter-1 gene (SLC6A1) in five populations: implications for pharmacogenetic research. (PMID: 17941974) Hirunsatit R. … Lappalainen J. (BMC Genet. 2007) 3 23
  3. Major human gamma-aminobutyrate transporter: in silico prediction of substrate efficacy. (PMID: 17967412) PallA^ A. … Simon A. (Biochem. Biophys. Res. Commun. 2007) 3 23
  4. Turnover rate of the gamma-aminobutyric acid transporter GAT1. (PMID: 17994179) Gonzales A.L. … Eskandari S. (J. Membr. Biol. 2007) 3 23
  5. Transmembrane domain 8 of the {gamma}-aminobutyric acid transporter GAT-1 lines a cytoplasmic accessibility pathway into its binding pocket. (PMID: 19201752) Ben-Yona A. … Kanner B.I. (J. Biol. Chem. 2009) 3 23

Products for SLC6A1 Gene

Sources for SLC6A1 Gene

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