Statements (23)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alias |
ASCT1
|
gptkbp:associatedWith |
spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM)
|
gptkbp:discoveredIn |
1999
|
gptkbp:encodes |
Solute carrier family 1 member 4 protein
|
gptkbp:Entrez_Gene_ID |
ENSG00000115935
6509 |
gptkbp:expressedIn |
brain
|
gptkbp:function |
amino acid transporter
|
gptkbp:geneType |
protein-coding
|
gptkbp:HGNC_ID |
HGNC:10941
|
https://www.w3.org/2000/01/rdf-schema#label |
SLC1A4 gene
|
gptkbp:locatedOnChromosome |
chromosome 2
|
gptkbp:mutationAssociatedWith |
neurological disorders
|
gptkbp:OMIM |
604194
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologIn |
gptkb:Mus_musculus
|
gptkbp:pathway |
amino acid transport across the plasma membrane
|
gptkbp:proteinFamily |
solute carrier family 1
|
gptkbp:UniProtID |
Q9H2B4
|
gptkbp:vehicleType |
sodium-dependent neutral amino acid transporter
|
gptkbp:bfsParent |
gptkb:FOXP2_gene
|
gptkbp:bfsLayer |
8
|