Entity Details

Primary name SLC7A9
Entity type gene
Source Source Link

Details

PrimaryID11136
RefseqGeneNG_008258
SymbolSLC7A9
Namesolute carrier family 7 member 9
Chromosome19
Location19q13.11
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-09-20
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsBAT1_HUMAN

GO terms

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GOName
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006865 amino acid transport
GO:0015175 neutral amino acid transmembrane transporter activity
GO:0015179 L-amino acid transmembrane transporter activity
GO:0015184 L-cystine transmembrane transporter activity
GO:0015804 neutral amino acid transport
GO:0015811 L-cystine transport
GO:0016324 apical plasma membrane
GO:0031526 brush border membrane
GO:0042605 peptide antigen binding
GO:0050900 leukocyte migration
GO:0065003 protein-containing complex assembly

Diseases

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Disease IDSourceNameDescription
220100 OMIMCystinuria (CSNU)An autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions

InteractorPartnerSourcesPublicationsLink
SLC7A9TGM2BioGRID, IntAct21988832 details
SLC7A9HSPB1BioGRID, IntAct25277244 details
SLC7A9CREB3BioGRID, IntAct25910212 details
SLC7A9AGO2MINT17932509 details
SLC7A9CUL1BioGRID21145461 details