Entity Details

Primary name SLC6A1
Entity type gene
Source Source Link

Details

PrimaryID6529
RefseqGeneNG_053003
SymbolSLC6A1
Namesolute carrier family 6 member 1
Chromosome3
Location3p25.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsSC6A1_HUMAN

GO terms

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GOName
GO:0005332 gamma-aminobutyric acid:sodium symporter activity
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0007268 chemical synaptic transmission
GO:0007613 memory
GO:0008306 associative learning
GO:0009986 cell surface
GO:0010035 response to inorganic substance
GO:0015185 gamma-aminobutyric acid transmembrane transporter activity
GO:0015378 sodium:chloride symporter activity
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030424 axon
GO:0035725 sodium ion transmembrane transport
GO:0043005 neuron projection
GO:0043025 neuronal cell body
GO:0046872 metal ion binding
GO:0050808 synapse organization
GO:0051936 gamma-aminobutyric acid reuptake
GO:0051939 gamma-aminobutyric acid import
GO:0098658 inorganic anion import across plasma membrane
GO:0098719 sodium ion import across plasma membrane
GO:0098793 presynapse
GO:0150104 transport across blood-brain barrier
GO:1902476 chloride transmembrane transport

Diseases

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Disease IDSourceNameDescription
616421 OMIMMyoclonic-atonic epilepsy (MAE)A form of epilepsy characterized by myoclonic-atonic and absence seizures, appearing in early childhood. Patients have delayed development before the onset of seizures and show varying degrees of intellectual disability following seizure onset. The disease is caused by variants affecting the gene represented in this entry.

Interactions

8 interactions