SLC6A1
entrez
6529
canonical
uniprot
P30531
canonical
ensembl
ENSG00000157103
resolver
ensp
ENSP00000287766
resolver
ensp
ENSP00000493591
resolver
ensp
ENSP00000493746
resolver
ensp
ENSP00000493813
resolver
ensp
ENSP00000494002
resolver
ensp
ENSP00000494050
resolver
ensp
ENSP00000494134
resolver
ensp
ENSP00000494136
resolver
ensp
ENSP00000494191
resolver
ensp
ENSP00000494346
resolver
ensp
ENSP00000494778
resolver
ensp
ENSP00000494997
resolver
ensp
ENSP00000495375
resolver
ensp
ENSP00000495751
resolver
ensp
ENSP00000495900
resolver
ensp
ENSP00000496064
resolver
ensp
ENSP00000496171
resolver
ensp
ENSP00000496238
resolver
ensp
ENSP00000496302
resolver
ensp
ENSP00000496348
resolver
ensp
ENSP00000496390
resolver
ensp
ENSP00000496619
resolver
ensp
ENSP00000496697
resolver
enst
ENST00000287766
resolver
enst
ENST00000642201
resolver
enst
ENST00000642515
resolver
enst
ENST00000642639
resolver
enst
ENST00000642735
resolver
enst
ENST00000642767
resolver
enst
ENST00000642820
resolver
enst
ENST00000643396
resolver
enst
ENST00000643498
resolver
enst
ENST00000644314
resolver
enst
ENST00000645029
resolver
enst
ENST00000645054
resolver
enst
ENST00000645281
resolver
enst
ENST00000645592
resolver
enst
ENST00000645776
resolver
enst
ENST00000645974
resolver
enst
ENST00000646022
resolver
enst
ENST00000646060
resolver
enst
ENST00000646072
resolver
enst
ENST00000646570
resolver
enst
ENST00000646702
resolver
enst
ENST00000646924
resolver
enst
ENST00000647194
resolver
genesymbol
SLC6A1
resolver
genesymbol_syn
GABATR
resolver
genesymbol_syn
GABT1
resolver
genesymbol_syn
GAT1
resolver
hgnc
HGNC:11042
resolver
uniprot
A0A2R8Y4I3
resolver
uniprot
A0A2R8Y6J7
resolver
uniprot
B7Z3C5
resolver
uniprot
Q8N4K8
resolver
uniprot_entry
A0A2R8Y4I3_HUMAN
resolver
uniprot_entry
A0A2R8Y6J7_HUMAN
resolver
uniprot_entry
B7Z3C5_HUMAN
resolver
uniprot_entry
SC6A1_HUMAN
resolver
uniprot_sec
Q8N4K8
resolver
amino_acid_sequence
MATNGSKVADGQISTEVSEAPVANDKPKTLVVKVQKKAADLPDRDTWKGRFDFLMSCVGYAIGLGNVWRFPYLCGKNGGGAFLIPYFLTLIFAGVPLFLLECSLGQYTSIGGLGVWKLAPMFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLPWKQCDNPWNTDRCFSNYSMVNTTNMTSAVVEFWERNMHQMTDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVVYFSATYPYIMLIILFFRGVTLPGAKEGILFYITPNFRKLSDSEVWLDAATQIFFSYGLGLGSLIALGSYNSFHNNVYRDSIIVCCINSCTSMFAGFVIFSIVGFMAHVTKRSIADVAASGPGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCTVEGFITALVDEYPRLLRNRRELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRFYDNIQEMVGSRPCIWWKLCWSFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLMALSSMVLIPGYMAYMFLTLKGSLKQRIQVMVQPSEDIVRPENGPEQPQAGSSTSKEAYI
uniprot
proteins
disease_involvement
DISEASE: Myoclonic-atonic epilepsy (MAE) [MIM:616421]: 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. {ECO:0000269|PubMed:25865495, ECO:0000269|PubMed:30132828}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mediates transport of gamma-aminobutyric acid (GABA) together with sodium and chloride and is responsible for the reuptake of GABA from the synapse (PubMed:30132828). The translocation of GABA, however, may also occur in the reverse direction leading to the release of GABA (By similarity). The direction and magnitude of GABA transport is a consequence of the prevailing thermodynamic conditions, determined by membrane potential and the intracellular and extracellular concentrations of Na(+), Cl(-) and GABA (By similarity). Can also mediate sodium- and chloride-dependent transport of hypotaurine but to a much lower extent as compared to GABA (By similarity). {ECO:0000250|UniProtKB:P23978, ECO:0000250|UniProtKB:P31648, ECO:0000269|PubMed:30132828}.
uniprot
proteins
mass_dalton
67074
uniprot
proteins
protein_family
SLC6A1 subfamily
uniprot
proteins
protein_family
Sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
2387399
uniprot
proteins
pubmed
25865495
uniprot
proteins
pubmed
30132828
uniprot
proteins
sequence_length
599
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P23978}; Multi-pass membrane protein {ECO:0000255}. Presynapse {ECO:0000250|UniProtKB:P31648}. Note=Localized at the presynaptic terminals of interneurons. {ECO:0000250|UniProtKB:P31648}.
uniprot
proteins
transmembrane_region
TRANSMEM 53..73; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 81..100; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 124..144; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 212..230; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 239..256; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 292..309; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 321..342; /note="Helical; Name=7"; /evidence="ECO:0000255"; TRANSMEM 375..394; /note="Helical; Name=8"; /evidence="ECO:0000255"; TRANSMEM 422..440; /note="Helical; Name=9"; /evidence="ECO:0000255"; TRANSMEM 457..477; /note="Helical; Name=10"; /evidence="ECO:0000255"; TRANSMEM 498..517; /note="Helical; Name=11"; /evidence="ECO:0000255"; TRANSMEM 536..554; /note="Helical; Name=12"; /evidence="ECO:0000255
uniprot
proteins