Homo sapiens Gene: SLC7A9
Summary
InnateDB Gene IDBG-42294.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC7A9
Gene Name solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9
Synonyms BAT1; CSNU3;
Species Homo sapiens
Ensembl Gene ENSG00000021488
Encoded Proteins
solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:32830509-32869766
Strand Reverse strand
Band q13.11
Transcripts
ENST00000023064 ENSP00000023064
ENST00000590341 ENSP00000464822
ENST00000590465 ENSP00000468076
ENST00000587772 ENSP00000468439
ENST00000592232 ENSP00000465563
ENST00000589659
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 4 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0015171 amino acid transmembrane transporter activity
GO:0015175 neutral amino acid transmembrane transporter activity
GO:0015184 L-cystine transmembrane transporter activity
GO:0042605 peptide antigen binding
Biological Process
GO:0003333 amino acid transmembrane transport
GO:0006461 protein complex assembly
GO:0006520 cellular amino acid metabolic process
GO:0006810 transport
GO:0006811 ion transport
GO:0006865 amino acid transport
GO:0007596 blood coagulation
GO:0015804 neutral amino acid transport
GO:0015811 L-cystine transport
GO:0050900 leukocyte migration
GO:0055085 transmembrane transport
Cellular Component
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0031526 brush border membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Transmembrane transport of small molecules pathway
Amino acid transport across the plasma membrane pathway
Basigin interactions pathway
Transport of inorganic cations/anions and amino acids/oligopeptides pathway
SLC-mediated transmembrane transport pathway
Cell surface interactions at the vascular wall pathway
Hemostasis pathway
KEGG
Protein digestion and absorption pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P82251
TrEMBL
UniProt Splice Variant
Entrez Gene 11136
UniGene Hs.743345
RefSeq NM_001126335 NM_001243036 NM_014270 XM_005258468
HUGO HGNC:11067
OMIM 604144
CCDS CCDS12425
HPRD 04997
IMGT
EMBL AB033548 AF141289 AF421170 AF421171 AF421172 AF421173 AF421174 AF421175 AF421176 AF421177 AF421178 AF421179 AF421180 AF421181 AJ249199 AK313708 BC017962
GenPept AAD55898 AAH17962 AAN40878 BAB16840 BAG36453 CAB54003
RNA Seq Atlas 11136