Description: Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA. RefSeq Summary (NM_000341): This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr2:44,512,222-44,547,962 Size: 35,741 Total Exon Count: 7 Strand: + Coding Region Position: hg19 chr2:44,513,240-44,547,778 Size: 34,539 Coding Exon Count: 7
ID:SLC31_HUMAN DESCRIPTION: RecName: Full=Neutral and basic amino acid transport protein rBAT; Short=NBAT; AltName: Full=B(0,+)-type amino acid transport protein; AltName: Full=D2h; FUNCTION: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system B(0,+)-like activity). May function as an activator of SLC7A9 and be involved in the high-affinity reabsorption of cystine in the kidney tubule. SUBUNIT: Disulfide-linked heterodimer with the amino acid transport protein SLC7A9. SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane protein (Potential). TISSUE SPECIFICITY: Predominantly expressed in the kidney, small intestine and pancreas. Weakly expressed in liver. DISEASE: Defects in SLC3A1 are a cause of cystinuria type 1 (CSNU1) [MIM:220100]. Cystinuria (CSNU) arises from impaired transport of cystine and dibasic amino acids through the epithelial cells of the renal tubule and gastrointestinal tract. DISEASE: Defects in SLC3A1 are a cause of hypotonia-cystinuria syndrome (HCS) [MIM:606407]. HCS is characterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC3A1"; WEB RESOURCE: Name=Cysdb; Note=Cystinuria database; URL="http://www.cysdb.mcgill.ca/";
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): SLC3A1 CDC HuGE Published Literature: SLC3A1 Positive Disease Associations: cystinuria Related Studies:
cystinuria Guillen M et al. 2000, Association between M467T and 114 C-->A variants within the SLC3A1 gene and some phenotypical traits in cystinuria patients from Spain., Human genetics. 2000 Mar;106(3):314-20.
[PubMed 10798361]
cystinuria Harnevik, L. et al. 2003, Mutation analysis of SLC7A9 in cystinuria patients in Sweden., Genetic testing. 2003 ;7(1):13-20.
[PubMed 12820697]
We conclude that SLC3A1 is still the major disease gene among Swedish cystinuria patients, with only a minor contribution of SLC7A9 mutations as the genetic basis of cystinuria. The absence of SLC3A1 and SLC7A9 mutations in a substantial proportion of the patients implies that mutations in parts of the genes that were not analyzed may be present, as well as large deletions that escape detection by the methods used. However, our results raise the question of whether other, as yet unknown genes, may also be involved in cystinuria.
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 Q07837
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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.
Biological Process: GO:0003333 amino acid transmembrane transport GO:0005975 carbohydrate metabolic process GO:0006520 cellular amino acid metabolic process GO:0006865 amino acid transport GO:0015802 basic amino acid transport GO:0015811 L-cystine transport GO:1990822 basic amino acid transmembrane transport
BC022386 - Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1, mRNA (cDNA clone MGC:24059 IMAGE:4556946), complete cds. AK309145 - Homo sapiens cDNA, FLJ99186. AK313157 - Homo sapiens cDNA, FLJ93650, highly similar to Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA. AB033549 - Homo sapiens mRNA for hrBAT, complete cds. AK091932 - Homo sapiens cDNA FLJ34613 fis, clone KIDNE2014184, highly similar to Neutral and basic amino acid transport protein rBAT. AK289636 - Homo sapiens cDNA FLJ78695 complete cds, highly similar to Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1, mRNA. L11696 - Human amino acid transport-related protein mRNA, complete cds. M95548 - Homo sapiens amino acid transport protein mRNA, complete cds. AK223146 - Homo sapiens mRNA for solute carrier family 3, member 1 variant, clone: KDN03105. BC093624 - Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1, mRNA (cDNA clone MGC:120659 IMAGE:7939469), complete cds. BC093626 - Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1, mRNA (cDNA clone MGC:120661 IMAGE:7939471), complete cds. D82326 - Homo sapiens mRNA for Na+-independent neutral and basic amino acid transporter, complete cds. CU692594 - Synthetic construct Homo sapiens gateway clone IMAGE:100021982 5' read SLC3A1 mRNA. DQ895222 - Synthetic construct Homo sapiens clone IMAGE:100009682; FLH182499.01L; RZPDo839G11137D solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino> (SLC3A1) gene, encodes complete protein. DQ892031 - Synthetic construct clone IMAGE:100004661; FLH182503.01X; RZPDo839G11138D solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino> (SLC3A1) gene, encodes complete protein. DQ023513 - Homo sapiens SLC3A1 variant C (SLC3A1) mRNA, complete cds, alternatively spliced. DQ023515 - Homo sapiens SLC3A1 variant E (SLC3A1) mRNA, complete cds, alternatively spliced. DQ023516 - Homo sapiens SLC3A1 variant F (SLC3A1) mRNA, complete cds, alternatively spliced. DQ023517 - Homo sapiens SLC3A1 variant G (SLC3A1) mRNA, complete cds, alternatively spliced. KU178335 - Homo sapiens solute carrier family 3 member 1 isoform 1 (SLC3A1) mRNA, partial cds. KU178336 - Homo sapiens solute carrier family 3 member 1 isoform 2 (SLC3A1) mRNA, complete cds, alternatively spliced. DQ023512 - Homo sapiens SLC3A1 variant B (SLC3A1) mRNA, complete cds, alternatively spliced. AK092000 - Homo sapiens cDNA FLJ34681 fis, clone LIVER2003581, highly similar to Homo sapiens amino acid transport protein mRNA. DQ023514 - Homo sapiens SLC3A1 variant D (SLC3A1) mRNA, complete cds, alternatively spliced. JD087571 - Sequence 68595 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q07837 (Reactome details) participates in the following event(s):
R-HSA-379432 SLC7A9:SLC3A1 exchanges L-Arg, CySS-, L-Lys for L-Leu R-HSA-352230 Amino acid transport across the plasma membrane R-HSA-425374 Amino acid and oligopeptide SLC transporters R-HSA-425393 Metabolism of nitrogenous molecules R-HSA-425407 SLC-mediated transmembrane transport R-HSA-382551 Transport of small molecules
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