SLC32A1
entrez
140679
canonical
uniprot
Q9H598
canonical
ensembl
ENSG00000101438
resolver
ensp
ENSP00000217420
resolver
enst
ENST00000217420
resolver
genesymbol
SLC32A1
resolver
genesymbol_syn
VGAT
resolver
genesymbol_syn
VIAAT
resolver
hgnc
HGNC:11018
resolver
uniprot
Q8N489
resolver
uniprot_entry
VIAAT_HUMAN
resolver
uniprot_sec
Q8N489
resolver
amino_acid_sequence
MATLLRSKLSNVATSVSNKSQAKMSGMFARMGFQAATDEEAVGFAHCDDLDFEHRQGLQMDILKAEGEPCGDEGAEAPVEGDIHYQRGSGAPLPPSGSKDQVGGGGEFGGHDKPKITAWEAGWNVTNAIQGMFVLGLPYAILHGGYLGLFLIIFAAVVCCYTGKILIACLYEENEDGEVVRVRDSYVAIANACCAPRFPTLGGRVVNVAQIIELVMTCILYVVVSGNLMYNSFPGLPVSQKSWSIIATAVLLPCAFLKNLKAVSKFSLLCTLAHFVINILVIAYCLSRARDWAWEKVKFYIDVKKFPISIGIIVFSYTSQIFLPSLEGNMQQPSEFHCMMNWTHIAACVLKGLFALVAYLTWADETKEVITDNLPGSIRAVVNIFLVAKALLSYPLPFFAAVEVLEKSLFQEGSRAFFPACYSGDGRLKSWGLTLRCALVVFTLLMAIYVPHFALLMGLTGSLTGAGLCFLLPSLFHLRLLWRKLLWHQVFFDVAIFVIGGICSVSGFVHSLEGLIEAYRTNAED
uniprot
proteins
disease_involvement
DISEASE: Generalized epilepsy with febrile seizures plus 12 (GEFSP12) [MIM:620755]: An autosomal dominant neurologic disorder with variable expressivity and incomplete penetrance. Affected individuals have variable types of seizures, most often febrile seizures, sometimes combined with non-febrile focal or generalized seizures. Rarely, afebrile tonic-clonic seizures have been observed. {ECO:0000269|PubMed:34038384}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Developmental and epileptic encephalopathy 114 (DEE114) [MIM:620774]: A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE114 is an autosomal dominant form characterized by moderate-to-severe intellectual disability, onset of epilepsy within the first 18 months of life, and a choreiform, dystonic or dyskinetic movement disorder. {ECO:0000269|PubMed:36073542}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Antiporter that exchanges vesicular protons for cytosolic 4-aminobutanoate or to a lesser extend glycine, thus allowing their secretion from nerve terminals. The transport is equally dependent on the chemical and electrical components of the proton gradient (By similarity). May also transport beta-alanine (By similarity). Acidification of GABAergic synaptic vesicles is a prerequisite for 4-aminobutanoate uptake (By similarity). {ECO:0000250|UniProtKB:O35458, ECO:0000250|UniProtKB:O35633}.
uniprot
proteins
mass_dalton
57415
uniprot
proteins
protein_family
Amino acid/polyamine transporter 2 family
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12031963
uniprot
proteins
pubmed
12115694
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
34038384
uniprot
proteins
pubmed
36073542
uniprot
proteins
sequence_length
525
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:O35458}; Multi-pass membrane protein {ECO:0000255}. Presynapse {ECO:0000250|UniProtKB:O35633}. Note=Presents in glycine-, GABA- or GABA- and glycine-containing boutons. {ECO:0000250|UniProtKB:O35458}.
uniprot
proteins
transmembrane_region
TRANSMEM 133..153; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 205..225; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 266..286; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 306..326; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 342..362; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 384..404; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 439..459; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 462..482; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 490..510; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins