Identity
HGNC
LOCATION
2p14
LOCUSID
ALIAS
ASCT1,SATT,SPATCCM
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6509
MIM: 600229
HGNC: 10942
Ensembl: ENSG00000115902
Variants:
dbSNP: 6509
ClinVar: 6509
TCGA: ENSG00000115902
COSMIC: SLC1A4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000115902 | ENST00000234256 | P43007 |
| ENSG00000115902 | ENST00000531327 | P43007 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35605507 | 2022 | A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation. | 4 |
| 35605507 | 2022 | A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation. | 4 |
| 27909246 | 2017 | Retromer- and WASH-dependent sorting of nutrient transporters requires a multivalent interaction network with ANKRD50. | 35 |
| 28807674 | 2017 | Phenylglycine analogs are inhibitors of the neutral amino acid transporters ASCT1 and ASCT2 and enhance NMDA receptor-mediated LTP in rat visual cortex slices. | 13 |
| 27909246 | 2017 | Retromer- and WASH-dependent sorting of nutrient transporters requires a multivalent interaction network with ANKRD50. | 35 |
| 28807674 | 2017 | Phenylglycine analogs are inhibitors of the neutral amino acid transporters ASCT1 and ASCT2 and enhance NMDA receptor-mediated LTP in rat visual cortex slices. | 13 |
| 27193218 | 2016 | Novel European SLC1A4 variant: infantile spasms and population ancestry analysis. | 12 |
| 27193218 | 2016 | Novel European SLC1A4 variant: infantile spasms and population ancestry analysis. | 12 |
| 25930971 | 2015 | A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly. | 20 |
| 26041762 | 2015 | Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination. | 29 |
| 26138499 | 2015 | SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum. | 28 |
| 25930971 | 2015 | A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly. | 20 |
| 26041762 | 2015 | Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination. | 29 |
| 26138499 | 2015 | SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum. | 28 |
| 24808181 | 2014 | Na+ interactions with the neutral amino acid transporter ASCT1. | 10 |
Citation
Dessen P
SLC1A4 (solute carrier family 1 member 4)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/73311/slc1a4-(solute-carrier-family-1-member-4)
