SLC1A1
entrez
6505
canonical
uniprot
P43005
canonical
ensembl
ENSG00000106688
resolver
ensp
ENSP00000262352
resolver
ensp
ENSP00000601941
resolver
ensp
ENSP00000624134
resolver
enst
ENST00000262352
resolver
genesymbol
SLC1A1
resolver
genesymbol_syn
EAAC1
resolver
genesymbol_syn
EAAT3
resolver
genesymbol_syn
HEAAC1
resolver
hgnc
HGNC:10939
resolver
uniprot
O75587
resolver
uniprot
Q5VZ24
resolver
uniprot
Q8N199
resolver
uniprot
Q9UEW2
resolver
uniprot_entry
EAA3_HUMAN
resolver
uniprot_sec
O75587
resolver
uniprot_sec
Q5VZ24
resolver
uniprot_sec
Q8N199
resolver
uniprot_sec
Q9UEW2
resolver
amino_acid_sequence
MGKPARKGCEWKRFLKNNWVLLSTVAAVVLGITTGVLVREHSNLSTLEKFYFAFPGEILMRMLKLIILPLIISSMITGVAALDSNVSGKIGLRAVVYYFCTTLIAVILGIVLVVSIKPGVTQKVGEIARTGSTPEVSTVDAMLDLIRNMFPENLVQACFQQYKTKREEVKPPSDPEMNMTEESFTAVMTTAISKNKTKEYKIVGMYSDGINVLGLIVFCLVFGLVIGKMGEKGQILVDFFNALSDATMKIVQIIMCYMPLGILFLIAGKIIEVEDWEIFRKLGLYMATVLTGLAIHSIVILPLIYFIVVRKNPFRFAMGMAQALLTALMISSSSATLPVTFRCAEENNQVDKRITRFVLPVGATINMDGTALYEAVAAVFIAQLNDLDLGIGQIITISITATSASIGAAGVPQAGLVTMVIVLSAVGLPAEDVTLIIAVDWLLDRFRTMVNVLGDAFGTGIVEKLSKKELEQMDVSSEVNIVNPFALESTILDNEDSDTKKSYVNGGFAVDKSDTISFTQTSQF
uniprot
proteins
disease_involvement
DISEASE: Dicarboxylic aminoaciduria (DCBXA) [MIM:222730]: An autosomal recessive disorder characterized by abnormal excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the kidney. It can be associated with intellectual disability. {ECO:0000269|PubMed:21123949}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Schizophrenia 18 (SCZD18) [MIM:615232]: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. {ECO:0000269|PubMed:21982423, ECO:0000269|PubMed:23341099}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. A deletion at the chromosome 9p24.2 locus, including SLC1A1, has been identified in patients with psychotic disorders (PubMed:21982423). This 84 kb deletion is immediately upstream of the SLC1A1 gene in a regulatory region that contains the full native promoter sequence, extends through exon 1 of the SLC1A1 mRNA, co-segregates with disease in an extended 5-generation pedigree and increases disease risk more than 18-fold for family members (PubMed:23341099). {ECO:0000269|PubMed:21982423, ECO:0000269|PubMed:23341099}.
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:21123949, PubMed:26690923, PubMed:33658209, PubMed:7521911, PubMed:7914198, PubMed:8857541). Can also transport L-cysteine (PubMed:21123949). 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:26690923, PubMed:33658209, PubMed:7521911, PubMed:8857541). 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:26690923, PubMed:8857541). Plays an important role in L-glutamate and L-aspartate reabsorption in renal tubuli (PubMed:21123949). Plays a redundant role in the rapid removal of released glutamate from the synaptic cleft, which is essential for terminating the postsynaptic action of glutamate (By similarity). Contributes to glutathione biosynthesis and protection against oxidative stress via its role in L-glutamate and L-cysteine transport (By similarity). Negatively regulated by ARL6IP5 (By similarity). {ECO:0000250|UniProtKB:P51906, ECO:0000250|UniProtKB:P51907, ECO:0000269|PubMed:21123949, ECO:0000269|PubMed:26690923, ECO:0000269|PubMed:33658209, ECO:0000269|PubMed:7521911, ECO:0000269|PubMed:7914198, ECO:0000269|PubMed:8857541}.
uniprot
proteins
mass_dalton
57100
uniprot
proteins
post_translational_modification
PTM: Glycosylated.
uniprot
proteins
protein_family
Dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family
uniprot
proteins
protein_family
SLC1A1 subfamily
uniprot
proteins
pubmed
11317217
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21123949
uniprot
proteins
pubmed
21982423
uniprot
proteins
pubmed
23341099
uniprot
proteins
pubmed
26690923
uniprot
proteins
pubmed
33658209
uniprot
proteins
pubmed
7521911
uniprot
proteins
pubmed
7859077
uniprot
proteins
pubmed
7914198
uniprot
proteins
pubmed
8857541
uniprot
proteins
sequence_length
524
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21123949, ECO:0000269|PubMed:26690923, ECO:0000269|PubMed:7521911, ECO:0000269|PubMed:7914198, ECO:0000269|PubMed:8857541}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P43003}. Apical cell membrane {ECO:0000269|PubMed:21123949}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P43003}. Synapse, synaptosome {ECO:0000250|UniProtKB:P51906}. Early endosome membrane {ECO:0000250|UniProtKB:P51906}. Late endosome membrane {ECO:0000250|UniProtKB:P51906}. Recycling endosome membrane {ECO:0000250|UniProtKB:P51906}.
uniprot
proteins
transmembrane_region
TRANSMEM 19..38; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 62..82; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 94..114; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 206..229; /note="Helical; Name=4"; /evidence="ECO:0000250|UniProtKB:P43003"; TRANSMEM 239..266; /note="Helical; Name=5"; /evidence="ECO:0000250|UniProtKB:P43003"; TRANSMEM 287..308; /note="Helical; Name=6"; /evidence="ECO:0000250|UniProtKB:P43003"; TRANSMEM 354..380; /note="Helical; Name=7"; /evidence="ECO:0000250|UniProtKB:P43003"; TRANSMEM 441..462; /note="Helical; Name=8"; /evidence="ECO:0000250|UniProtKB:P43003
uniprot
proteins