SLC38A3
entrez
10991
canonical
uniprot
Q99624
canonical
ensembl
ENSG00000188338
resolver
ensp
ENSP00000481301
resolver
ensp
ENSP00000558720
resolver
ensp
ENSP00000558736
resolver
ensp
ENSP00000558739
resolver
ensp
ENSP00000558740
resolver
ensp
ENSP00000558741
resolver
ensp
ENSP00000558742
resolver
ensp
ENSP00000558743
resolver
ensp
ENSP00000558744
resolver
ensp
ENSP00000558745
resolver
ensp
ENSP00000558746
resolver
ensp
ENSP00000600104
resolver
enst
ENST00000614032
resolver
enst
ENST00000888661
resolver
enst
ENST00000888677
resolver
enst
ENST00000888680
resolver
enst
ENST00000888681
resolver
enst
ENST00000888682
resolver
enst
ENST00000888683
resolver
enst
ENST00000888684
resolver
enst
ENST00000888685
resolver
enst
ENST00000888686
resolver
enst
ENST00000888687
resolver
enst
ENST00000930045
resolver
genesymbol
SLC38A3
resolver
genesymbol_syn
G17
resolver
genesymbol_syn
NAT1
resolver
genesymbol_syn
SN1
resolver
genesymbol_syn
SNAT3
resolver
hgnc
HGNC:18044
resolver
uniprot
B2R8Q0
resolver
uniprot
Q6IB34
resolver
uniprot_entry
S38A3_HUMAN
resolver
uniprot_sec
B2R8Q0
resolver
uniprot_sec
Q6IB34
resolver
amino_acid_sequence
MEAPLQTEMVELVPNGKHSEGLLPVITPMAGNQRVEDPARSCMEGKSFLQKSPSKEPHFTDFEGKTSFGMSVFNLSNAIMGSGILGLAYAMANTGIILFLFLLTAVALLSSYSIHLLLKSSGVVGIRAYEQLGYRAFGTPGKLAAALAITLQNIGAMSSYLYIIKSELPLVIQTFLNLEEKTSDWYMNGNYLVILVSVTIILPLALMRQLGYLGYSSGFSLSCMVFFLIAVIYKKFHVPCPLPPNFNNTTGNFSHVEIVKEKVQLQVEPEASAFCTPSYFTLNSQTAYTIPIMAFAFVCHPEVLPIYTELKDPSKKKMQHISNLSIAVMYIMYFLAALFGYLTFYNGVESELLHTYSKVDPFDVLILCVRVAVLTAVTLTVPIVLFPVRRAIQQMLFPNQEFSWLRHVLIAVGLLTCINLLVIFAPNILGIFGVIGATSAPFLIFIFPAIFYFRIMPTEKEPARSTPKILALCFAMLGFLLMTMSLSFIIIDWASGTSRHGGNH
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 102 (DEE102) [MIM:619881]: 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. DEE102 is an autosomal recessive form characterized by onset of variable types of seizures in infancy. {ECO:0000269|PubMed:34605855}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Symporter that cotransports specific neutral amino acids and sodium ions, coupled to an H(+) antiporter activity (PubMed:10823827). Mainly participates in the glutamate-GABA-glutamine cycle in brain where it transports L-glutamine from astrocytes in the intercellular space for the replenishment of both neurotransmitters glutamate and gamma-aminobutyric acid (GABA) in neurons and also functions as the major influx transporter in ganglion cells mediating the uptake of glutamine (By similarity). The transport activity is specific for L-glutamine, L-histidine and L-asparagine (PubMed:10823827). The transport is electroneutral coupled to the cotransport of 1 Na(+) and the antiport of 1 H(+) (By similarity). The transport is pH dependent, saturable, Li(+) tolerant and functions in both direction depending on the concentration gradients of its substrates and cotransported ions (PubMed:10823827). Also mediates an amino acid-gated H(+) conductance that is not stoichiometrically coupled to the amino acid transport but which influences the ionic gradients that drive the amino acid transport (By similarity). In addition, may play a role in nitrogen metabolism, amino acid homeostasis, glucose metabolism and renal ammoniagenesis (By similarity). {ECO:0000250|UniProtKB:Q9DCP2, ECO:0000250|UniProtKB:Q9JHZ9, ECO:0000269|PubMed:10823827}.
uniprot
proteins
mass_dalton
55773
uniprot
proteins
protein_family
Amino acid/polyamine transporter 2 family
uniprot
proteins
pubmed
10823827
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
34605855
uniprot
proteins
sequence_length
504
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q9DCP2}; Multi-pass membrane protein {ECO:0000255}. Basolateral cell membrane {ECO:0000250|UniProtKB:Q9DCP2}. Note=The localization appears to be basolateral in the plasma membrane of hepatocytes surrounding the central vein. Localized at the cerebrospinal fluid (CSF)-facing membrane of the choroid plexus epithelial cells. In astrocytes, the localization at cell membrane is decreased by ammonia through the PKC signaling. Expressed in both luminal and abluminal plasma membranes of larger microvessels and blood brain barrier (BBB) capillaries (By similarity). Restricted to the basolateral membranes of S3 segment cells of the proximal tubules (By similarity). {ECO:0000250|UniProtKB:Q9DCP2, ECO:0000250|UniProtKB:Q9JHZ9}.
uniprot
proteins
transmembrane_region
TRANSMEM 83..103; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 106..126; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 144..164; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 187..207; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 213..233; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 324..344; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 366..386; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 408..428; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 431..451; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 471..491; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins