Description: Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 3, mRNA. RefSeq Summary (NM_001243036): 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]. Transcript (Including UTRs) Position: hg19 chr19:33,321,419-33,360,683 Size: 39,265 Total Exon Count: 13 Strand: - Coding Region Position: hg19 chr19:33,321,526-33,359,440 Size: 37,915 Coding Exon Count: 12
ID:BAT1_HUMAN DESCRIPTION: RecName: Full=B(0,+)-type amino acid transporter 1; Short=B(0,+)AT; AltName: Full=Glycoprotein-associated amino acid transporter b0,+AT1; AltName: Full=Solute carrier family 7 member 9; FUNCTION: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high- affinity reabsorption of cystine in the kidney tubule. SUBUNIT: Disulfide-linked heterodimer with the amino acid transport protein SLC3A1. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Probable). TISSUE SPECIFICITY: Kidney, small intestine, liver and placenta. DISEASE: Defects in SLC7A9 are a cause of non-type I cystinuria (CSNU) [MIM:220100]. CSNU arises from impaired transport of cystine and dibasic amino acids through the epithelial cells of the renal tubule and gastrointestinal tract. Three types of cystinuria have been described: type I (fully recessive or silent); type II (high excretor); type III (moderate excretor). Defects in SLC7A9 are associated with type II and type III cystinuria. They also might account for some non-classic type I cystinuria cases. SIMILARITY: Belongs to the amino acid-polyamine-organocation (APC) superfamily. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC7A9";
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): SLC7A9 CDC HuGE Published Literature: SLC7A9 Positive Disease Associations: Cystatin C
, cystinuria
, Metabolism Related Studies:
Cystatin C Anna Kottgen et al. Nature genetics 2010, New loci associated with kidney function and chronic kidney disease., Nature genetics.
[PubMed 20383146]
cystinuria Schmidt, C. et al. 2003, Genetic variations of the SLC7A9 gene: alleledistribution of 13 polymorphic sites in German cystinuria patients and controls., Clinical nephrology. 2003 May;59(5):353-9.
[PubMed 12779097]
In summary, our results show that cystinuria is a complex disease which is not only caused by mutations in SLC7A9 and SLC3A1, but also influenced by other modifying factors such as variants in SLC7A9.
Metabolism Karsten Suhre et al. Nature genetics 2011, A genome-wide association study of metabolic traits in human urine., Nature genetics.
[PubMed 21572414]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P82251
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AL365341 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 1868615. AL365340 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 126710. AJ249199 - Homo sapiens mRNA for glycoprotein-associated amino acid transporter b0,+AT1. BC029802 - Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 9, mRNA (cDNA clone IMAGE:5182360), with apparent retained intron. AF141289 - Homo sapiens bo,+ amino acid transporter (SLC7A9) mRNA, complete cds. AB033548 - Homo sapiens mRNA for hBAT1, complete cds. AK026446 - Homo sapiens cDNA: FLJ22793 fis, clone KAIA2290, highly similar to AF141289 Homo sapiens bo,+ amino acid transporter (SLC7A9) mRNA. BC017962 - Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 9, mRNA (cDNA clone MGC:24085 IMAGE:4608486), complete cds. AK223147 - Homo sapiens mRNA for solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 variant, clone: KDN05935. AY170373 - Homo sapiens cationic amino acid transporter y+ system member 9 splice variant (SLC7A9) mRNA, complete sequence, alternatively spliced. AK313708 - Homo sapiens cDNA, FLJ94301, Homo sapiens solute carrier family 7 (cationic amino acidtransporter, y+ system), member 9 (SLC7A9), mRNA. DQ892006 - Synthetic construct clone IMAGE:100004636; FLH182247.01X; RZPDo839E03138D solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 (SLC7A9) gene, encodes complete protein. KJ893231 - Synthetic construct Homo sapiens clone ccsbBroadEn_02625 SLC7A9 gene, encodes complete protein. KR711201 - Synthetic construct Homo sapiens clone CCSBHm_00021103 SLC7A9 (SLC7A9) mRNA, encodes complete protein. KR711202 - Synthetic construct Homo sapiens clone CCSBHm_00021118 SLC7A9 (SLC7A9) mRNA, encodes complete protein. KR711203 - Synthetic construct Homo sapiens clone CCSBHm_00021130 SLC7A9 (SLC7A9) mRNA, encodes complete protein. KR711204 - Synthetic construct Homo sapiens clone CCSBHm_00021138 SLC7A9 (SLC7A9) mRNA, encodes complete protein. DQ895195 - Synthetic construct Homo sapiens clone IMAGE:100009655; FLH182243.01L; RZPDo839E03137D solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 (SLC7A9) gene, encodes complete protein. CU676124 - Synthetic construct Homo sapiens gateway clone IMAGE:100022297 5' read SLC7A9 mRNA. JD424702 - Sequence 405726 from Patent EP1572962. JD117608 - Sequence 98632 from Patent EP1572962. JD464692 - Sequence 445716 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein P82251 (Reactome details) participates in the following event(s):
R-HSA-379432 SLC7A9:SLC3A1 exchanges L-Arg, CySS-, L-Lys for L-Leu R-HSA-375131 Basigin binds CD98 complex R-HSA-352230 Amino acid transport across the plasma membrane R-HSA-210991 Basigin interactions R-HSA-425374 Amino acid and oligopeptide SLC transporters R-HSA-425393 Metabolism of nitrogenous molecules R-HSA-202733 Cell surface interactions at the vascular wall R-HSA-425407 SLC-mediated transmembrane transport R-HSA-109582 Hemostasis R-HSA-382551 Transport of small molecules