SLC1A4
entrez
6509
canonical
uniprot
P43007
canonical
ensembl
ENSG00000115902
resolver
ensp
ENSP00000234256
resolver
ensp
ENSP00000431942
resolver
genesymbol
SLC1A4
resolver
genesymbol_syn
ASCT1
resolver
genesymbol_syn
SATT
resolver
hgnc
HGNC:10942
resolver
uniprot
B7Z3C0
resolver
uniprot
D6W5F0
resolver
uniprot_entry
SATT_HUMAN
resolver
uniprot_sec
B7Z3C0
resolver
uniprot_sec
D6W5F0
resolver
amino_acid_sequence
MEKSNETNGYLDSAQAGPAAGPGAPGTAAGRARRCAGFLRRQALVLLTVSGVLAGAGLGAALRGLSLSRTQVTYLAFPGEMLLRMLRMIILPLVVCSLVSGAASLDASCLGRLGGIAVAYFGLTTLSASALAVALAFIIKPGSGAQTLQSSDLGLEDSGPPPVPKETVDSFLDLARNLFPSNLVVAAFRTYATDYKVVTQNSSSGNVTHEKIPIGTEIEGMNILGLVLFALVLGVALKKLGSEGEDLIRFFNSLNEATMVLVSWIMWYVPVGIMFLVGSKIVEMKDIIVLVTSLGKYIFASILGHVIHGGIVLPLIYFVFTRKNPFRFLLGLLAPFATAFATCSSSATLPSMMKCIEENNGVDKRISRFILPIGATVNMDGAAIFQCVAAVFIAQLNNVELNAGQIFTILVTATASSVGAAGVPAGGVLTIAIILEAIGLPTHDLPLILAVDWIVDRTTTVVNVEGDALGAGILHHLNQKATKKGEQELAEVKVEAIPNCKSEEETSPLVTHQNPAGPVASAPELESKESVL
uniprot
proteins
disease_involvement
DISEASE: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) [MIM:616657]: A neurodevelopmental disorder characterized by thin corpus callosum, severe progressive microcephaly, severe intellectual disability, seizures, spasticity, and global developmental delay. Most patients are unable to achieve independent walking or speech. {ECO:0000269|PubMed:25930971, ECO:0000269|PubMed:26041762, ECO:0000269|PubMed:26138499, ECO:0000269|PubMed:34630942}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Sodium-coupled antiporter of neutral amino acids. In a tri-substrate transport cycle, exchanges neutral amino acids between the extracellular and intracellular compartments, coupled to the inward cotransport of at least one sodium ion (PubMed:24808181, PubMed:27272177, PubMed:34630942, PubMed:8910405). Exchanges neutral amino acids such as L- and D-serine, L-threonine, L-asparagine and L-alanine in a bidirectional way (PubMed:14502423, PubMed:26041762, PubMed:27272177, PubMed:34630942, PubMed:8101838, PubMed:8340364, PubMed:8910405). Involved in homeostasis of D-serine, a coagonist of synaptic NMDA receptors. In astrocytes at excitatory synapses, mediates electrogenic D-serine influx coupled to L-serine efflux and L-serine shuttling to neurons for de novo D-serine synthesis (By similarity). Displays sodium- and amino acid-dependent but uncoupled channel-like anion conductance with a preference SCN(-) > NO3(-) > I(-) > Cl(-) (PubMed:8910405). {ECO:0000250|UniProtKB:O35874, ECO:0000269|PubMed:14502423, ECO:0000269|PubMed:24808181, ECO:0000269|PubMed:26041762, ECO:0000269|PubMed:27272177, ECO:0000269|PubMed:34630942, ECO:0000269|PubMed:8101838, ECO:0000269|PubMed:8340364, ECO:0000269|PubMed:8910405}.
uniprot
proteins
mass_dalton
55723
uniprot
proteins
mutagenesis
MUTAGEN 124; /note="T->A: Impairs Na(+) binding. 3-fold reduction of L-serine transport rate."; /evidence="ECO:0000269|PubMed:24808181"; MUTAGEN 125; /note="T->A: No effect on affinity for Na(+) ions. No effect on L-serine transport rate. Causes a shift of Na(+):L-serine transport stoichiometry from 1.2 to 2."; /evidence="ECO:0000269|PubMed:24808181"; MUTAGEN 380; /note="D->A: Decreases the affinity for Na(+) ions and L-serine. Impairs L-serine transport."; /evidence="ECO:0000269|PubMed:24808181"; MUTAGEN 380; /note="D->N: Decreases the affinity for Na(+) ions and L-serine. No effect on L-serine transport rate. Decreases the affinity for Na(+) ions by 2-fold, increases L-serine-induced anion conductance by 3.8 fold and impairs L-serine transport; when associated with Ser-467. 2-fold reduction of L-serine transport rate; when associated with Leu-465."; /evidence="ECO:0000269|PubMed:24808181"; MUTAGEN 380; /note="D->S: No significant effect on affinity for Na(+) ions. 3.5-fold reduction of L-serine transport rate."; /evidence="ECO:0000269|PubMed:24808181"; MUTAGEN 422; /note="G->S: Impairs Na(+) binding. No effect on L-serine transport rate."; /evidence="ECO:0000269|PubMed:24808181"; MUTAGEN 465; /note="E->L: No effect on affinity for Na(+) ions. 2-fold reduction of L-serine transport rate; when associated with Asn-380."; /evidence="ECO:0000269|PubMed:24808181"; MUTAGEN 467; /note="D->A: Decreases the affinity for Na(+) ions. Impairs L-serine transport."; /evidence="ECO:0000269|PubMed:24808181"; MUTAGEN 467; /note="D->N: No effect on affinity for Na(+) ions. No effect on Na(+):L-serine transport stoichiometry. 3-fold decreased L-serine transport rate."; /evidence="ECO:0000269|PubMed:24808181"; MUTAGEN 467; /note="D->S: No effect on affinity for Na(+) ions. No effect on L-serine transport rate and Na(+):L-serine transport stoichiometry. Decreases the affinity for Na(+) ions by 2-fold, increases L-serine-induced anion conductance by 3.8 fold and impairs L-serine transport; when associated with Asn-380."; /evidence="ECO:0000269|PubMed:24808181"; MUTAGEN 467; /note="D->T: Decreases the affinity for Na(+) ions. Impairs L-serine transport."; /evidence="ECO:0000269|PubMed:24808181
uniprot
proteins
protein_family
Dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family
uniprot
proteins
protein_family
SLC1A4 subfamily
uniprot
proteins
pubmed
14502423
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17081065
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19349973
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24808181
uniprot
proteins
pubmed
25930971
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26041762
uniprot
proteins
pubmed
26138499
uniprot
proteins
pubmed
27272177
uniprot
proteins
pubmed
34630942
uniprot
proteins
pubmed
35195906
uniprot
proteins
pubmed
7896285
uniprot
proteins
pubmed
8101838
uniprot
proteins
pubmed
8340364
uniprot
proteins
pubmed
8910405
uniprot
proteins
sequence_length
532
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26041762}; Multi-pass membrane protein {ECO:0000255}. Melanosome membrane {ECO:0000269|PubMed:17081065}; Multi-pass membrane protein {ECO:0000255}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269|PubMed:17081065}.
uniprot
proteins
transmembrane_region
TRANSMEM 42..67; /note="Helical; Name=1"; /evidence="ECO:0000250|UniProtKB:Q15758, ECO:0000305|PubMed:34630942"; TRANSMEM 81..102; /note="Helical; Name=2"; /evidence="ECO:0000250|UniProtKB:Q15758, ECO:0000305|PubMed:34630942"; TRANSMEM 117..139; /note="Helical; Name=3"; /evidence="ECO:0000250|UniProtKB:Q15758, ECO:0000305|PubMed:34630942"; TRANSMEM 217..240; /note="Helical; Name=4"; /evidence="ECO:0000250|UniProtKB:Q15758, ECO:0000305|PubMed:34630942"; TRANSMEM 250..277; /note="Helical; Name=5"; /evidence="ECO:0000250|UniProtKB:Q15758, ECO:0000305|PubMed:34630942"; TRANSMEM 299..320; /note="Helical; Name=6"; /evidence="ECO:0000250|UniProtKB:Q15758, ECO:0000305|PubMed:34630942"; TRANSMEM 366..392; /note="Helical; Name=7"; /evidence="ECO:0000250|UniProtKB:Q15758, ECO:0000305|PubMed:34630942"; TRANSMEM 453..474; /note="Helical; Name=8"; /evidence="ECO:0000250|UniProtKB:Q15758, ECO:0000305|PubMed:34630942
uniprot
proteins