Statements (18)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alias |
BAT1
b(0,+) amino acid transporter b(0,+)AT |
gptkbp:associatedWith |
cystinuria
|
gptkbp:encodes |
b(0,+)-type amino acid transporter 1
|
gptkbp:Entrez_Gene_ID |
11136
|
gptkbp:expressedIn |
gptkb:kidney
gptkb:small_intestine |
gptkbp:function |
amino acid transport
|
gptkbp:HGNC_ID |
HGNC:11057
|
https://www.w3.org/2000/01/rdf-schema#label |
SLC7A9
|
gptkbp:locatedOnChromosome |
gptkb:chromosome_19
|
gptkbp:mutationAssociatedWith |
autosomal recessive cystinuria type B
|
gptkbp:OMIM |
604544
|
gptkbp:UniProtID |
O43246
|
gptkbp:bfsParent |
gptkb:solute_carrier_family
|
gptkbp:bfsLayer |
6
|