Gene table of SLC6A1 : solute carrier family 6 member 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SLC6A1	OMIM link	Number of associated genes	genes
616421	MYOCLONIC-ATONIC EPILEPSY	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	SLC6A1

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Annotation of the gene SLC6A1

Associated genes in ENSEMBL

ENSG00000157103

Associated proteins - SwissProt Accession ID

P30531

Associated PDB IDs

Cytogenetic Band

3p25.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
GABAergic synapse	hsa04727	6.24

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
GABA synthesis, release, reuptake and degradation	R-HSA-888590	8.73
Reuptake of GABA	R-HSA-888593	10.98
Transmembrane transport of small molecules	R-HSA-382551	3.79
Na+/Cl- dependent neurotransmitter transporters	R-HSA-442660	8.73
SLC-mediated transmembrane transport	R-HSA-425407	4.95
Neuronal System	R-HSA-112316	4.82
Transmission across Chemical Synapses	R-HSA-112315	5.28
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds	R-HSA-425366	6.34
Neurotransmitter Release Cycle	R-HSA-112310	7.34

Associated GO terms for Molecular function

GO term	GO ID	GO IC
organic acid transmembrane transporter activity	GO:0005342	4.97
organic acid:sodium symporter activity	GO:0005343	6.48
solute:cation symporter activity	GO:0015294	5.15
monocarboxylic acid transmembrane transporter activity	GO:0008028	6.18
neurotransmitter transporter activity	GO:0005326	6.52
binding	GO:0005488	0.18
gamma-aminobutyric acid transmembrane transporter activity	GO:0015185	8.13
neurotransmitter:sodium symporter activity	GO:0005328	6.79
cation:amino acid symporter activity	GO:0005416	6.97
sodium ion transmembrane transporter activity	GO:0015081	4.83
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
ion binding	GO:0043167	1.36
solute:sodium symporter activity	GO:0015370	5.83
metal ion transmembrane transporter activity	GO:0046873	3.71
metal ion binding	GO:0046872	1.41
active transmembrane transporter activity	GO:0022804	3.85
gamma-aminobutyric acid:sodium symporter activity	GO:0005332	8.35
secondary active transmembrane transporter activity	GO:0015291	4.29
symporter activity	GO:0015293	4.78
cation binding	GO:0043169	1.4
transporter activity	GO:0005215	2.57
cation transmembrane transporter activity	GO:0008324	3.32
carboxylic acid transmembrane transporter activity	GO:0046943	4.99
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
substrate-specific transporter activity	GO:0022892	2.72
sodium:amino acid symporter activity	GO:0005283	7.25
ion transmembrane transporter activity	GO:0015075	3.04
transmembrane transporter activity	GO:0022857	2.82
amino acid transmembrane transporter activity	GO:0015171	5.38