SLC1A2
entrez
6506
canonical
uniprot
P43004
canonical
ensembl
ENSG00000110436
resolver
ensp
ENSP00000278379
resolver
ensp
ENSP00000379099
resolver
ensp
ENSP00000379102
resolver
ensp
ENSP00000493945
resolver
ensp
ENSP00000494025
resolver
ensp
ENSP00000495126
resolver
ensp
ENSP00000495164
resolver
ensp
ENSP00000496093
resolver
ensp
ENSP00000496375
resolver
ensp
ENSP00000496667
resolver
enst
ENST00000395750
resolver
enst
ENST00000643522
resolver
enst
ENST00000645303
resolver
genesymbol
SLC1A2
resolver
genesymbol_syn
EAAT2
resolver
genesymbol_syn
GLT1
resolver
hgnc
HGNC:10940
resolver
uniprot
A0A2R8Y860
resolver
uniprot
A0A2R8YFE3
resolver
uniprot
A0A2U3TZS7
resolver
uniprot
A2A2U1
resolver
uniprot
B4DQE9
resolver
uniprot
Q14417
resolver
uniprot
Q541G6
resolver
uniprot
U3KQQ4
resolver
uniprot_entry
A0A2R8Y860_HUMAN
resolver
uniprot_entry
A0A2R8YFE3_HUMAN
resolver
uniprot_entry
A0A2U3TZS7_HUMAN
resolver
uniprot_entry
A2A2U1_HUMAN
resolver
uniprot_entry
EAA2_HUMAN
resolver
uniprot_sec
B4DQE9
resolver
uniprot_sec
Q14417
resolver
uniprot_sec
Q541G6
resolver
uniprot_sec
U3KQQ4
resolver
amino_acid_sequence
MASTEGANNMPKQVEVRMHDSHLGSEEPKHRHLGLRLCDKLGKNLLLTLTVFGVILGAVCGGLLRLASPIHPDVVMLIAFPGDILMRMLKMLILPLIISSLITGLSGLDAKASGRLGTRAMVYYMSTTIIAAVLGVILVLAIHPGNPKLKKQLGPGKKNDEVSSLDAFLDLIRNLFPENLVQACFQQIQTVTKKVLVAPPPDEEANATSAVVSLLNETVTEVPEETKMVIKKGLEFKDGMNVLGLIGFFIAFGIAMGKMGDQAKLMVDFFNILNEIVMKLVIMIMWYSPLGIACLICGKIIAIKDLEVVARQLGMYMVTVIIGLIIHGGIFLPLIYFVVTRKNPFSFFAGIFQAWITALGTASSAGTLPVTFRCLEENLGIDKRVTRFVLPVGATINMDGTALYEAVAAIFIAQMNGVVLDGGQIVTVSLTATLASVGAASIPSAGLVTMLLILTAVGLPTEDISLLVAVDWLLDRMRTSVNVVGDSFGAGIVYHLSKSELDTIDSQHRVHEDIEMTKTQSIYDDMKNHRESNSNQCVYAAHNSVIVDECKVTLAANGKSADCSVEEEPWKREK
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 41 (DEE41) [MIM:617105]: A form of epileptic encephalopathy, a heterogeneous group of severe 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. DEE41 inheritance is autosomal dominant. {ECO:0000269|PubMed:27476654, ECO:0000269|PubMed:28777935}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:14506254, PubMed:15265858, PubMed:26690923, PubMed:7521911). Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion (PubMed:14506254). Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport (PubMed:14506254). Essential for the rapid removal of released glutamate from the synaptic cleft, and for terminating the postsynaptic action of glutamate (By similarity). {ECO:0000250|UniProtKB:P43006, ECO:0000269|PubMed:15265858, ECO:0000269|PubMed:26690923, ECO:0000269|PubMed:7521911}.
uniprot
proteins
mass_dalton
62104
uniprot
proteins
post_translational_modification
PTM: Glycosylated. {ECO:0000269|PubMed:15265858}.; PTM: Palmitoylation at Cys-38 is not required for correct subcellular localization, but is important for glutamate uptake activity. {ECO:0000250|UniProtKB:P43006}.
uniprot
proteins
protein_family
Dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family
uniprot
proteins
protein_family
SLC1A2 subfamily
uniprot
proteins
pubmed
12950454
uniprot
proteins
pubmed
14506254
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15265858
uniprot
proteins
pubmed
15483603
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
20688910
uniprot
proteins
pubmed
26483543
uniprot
proteins
pubmed
26690923
uniprot
proteins
pubmed
27476654
uniprot
proteins
pubmed
28777935
uniprot
proteins
pubmed
7521911
uniprot
proteins
pubmed
7522567
uniprot
proteins
pubmed
8172925
uniprot
proteins
pubmed
9463476
uniprot
proteins
sequence_length
574
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:14506254, ECO:0000269|PubMed:15265858, ECO:0000269|PubMed:26690923, ECO:0000269|PubMed:7521911}; Multi-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 45..64; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 88..108; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 121..142; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 236..259; /note="Helical; Name=4"; /evidence="ECO:0000250|UniProtKB:P43003"; TRANSMEM 269..296; /note="Helical; Name=5"; /evidence="ECO:0000250|UniProtKB:P43003"; TRANSMEM 318..339; /note="Helical; Name=6"; /evidence="ECO:0000250|UniProtKB:P43003"; TRANSMEM 385..411; /note="Helical; Name=7"; /evidence="ECO:0000250|UniProtKB:P43003"; TRANSMEM 472..493; /note="Helical; Name=8"; /evidence="ECO:0000250|UniProtKB:P43003
uniprot
proteins