SLC3A1 cDNA ORF clone, Homo sapiens(human)
| Gene Symbol | SLC3A1 |
| Entrez Gene ID | 6519 |
| Full Name | solute carrier family 3 member 1 |
| Synonyms | ATR1,CSNU1,D2H,NBAT,RBAT |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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]. |
| Disorder MIM: | |
| Disorder Html: | Cystinuria, 220100 (3) |
mRNA and Protein(s)
| mRNA | Protein | Name |
|---|---|---|
| NM_000341.3 | NP_000332.2 | neutral and basic amino acid transport protein rBAT |
| XM_011533047.2 | XP_011531349.1 | neutral and basic amino acid transport protein rBAT isoform X1 |
| Homo sapiens (human) | SLC3A1 | NP_000332.2 |
| Danio rerio (zebrafish) | slc3a1 | XP_685969.3 |
| Bos taurus (cattle) | SLC3A1 | NP_001029805.1 |
| Mus musculus (house mouse) | Slc3a1 | NP_033231.2 |
| Gallus gallus (chicken) | SLC3A1 | XP_426125.3 |
| Neurospora crassa | NCU06523 | XP_961795.1 |
| Canis lupus familiaris (dog) | SLC3A1 | NP_001003109.1 |
| Drosophila melanogaster (fruit fly) | Mal-B1 | NP_609522.1 |
| Drosophila melanogaster (fruit fly) | Mal-B2 | NP_609523.2 |
| Pan troglodytes (chimpanzee) | SLC3A1 | XP_515443.2 |
| SLC3A1 | XP_001112327.2 | |
| Magnaporthe oryzae (rice blast fungus) | MGG_07547 | XP_003711461.1 |
| Xenopus tropicalis (tropical clawed frog) | slc3a1 | NP_001072903.1 |
| Rattus norvegicus (Norway rat) | Slc3a1 | NP_058912.1 |
| Anopheles gambiae (African malaria mosquito) | AgaP_AGAP008965 | XP_319713.4 |
Related articles in PubMed
Delineation of cystinuria in Saudi Arabia: A case series.
Obaid A, Nashabat M, Al Fakeeh K, Al Qahtani AT, Alfadhel M
BMC nephrology18(1)50(2017 02)
Cysteine transporter SLC3A1 promotes breast cancer tumorigenesis.
Jiang Y, Cao Y, Wang Y, Li W, Liu X, Lv Y, Li X, Mi J
Theranostics7(4)1036-1046(2017)
Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T, Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Trigg SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K, Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE, Iakoucheva LM, Xia Y, Vidal M
Cell164(4)805-17(2016 Feb)
A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria.
Markazi S, Kheirollahi M, Doosti A, Mohammadi M, Koulivand L
Iranian journal of kidney diseases10(1)44-7(2016 Jan)
Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population.
Athanasiou Y, Voskarides K, Chatzikyriakidou A, Ignatiou A, Demosthenous P, Elia A, Zavros M, Georgiou I, Pierides A, Deltas C
Genetic testing and molecular biomarkers19(11)641-5(2015 Nov)
GeneRIFs: Gene References Into Functions What's a GeneRIF?
In a Saudi Arabian cohort of patients with cystinuria, two new variants in the SLC3A1 and SLC9A7 genes were discovered. All of the detected mutations were missense variants in three different exons, such as c.1711 T > A (p.Cys571Ser) (exon 10), c.1166C > T p.Thr389Met (exon 11) and c.1400 T > A p.Met467Lys (exon 8).
Title: Delineation of cystinuria in Saudi Arabia: A case series.
Here, the authors report that the expression level of the solute carrier family 3, member 1 (SLC3A1), the cysteine carrier, tightly correlated with clinical stages and patients' survival. Elevated SLC3A1 expression accelerated the cysteine uptake and the accumulation of reductive glutathione (GSH), leading to reduced reactive oxygen species (ROS).
Title: Cysteine transporter SLC3A1 promotes breast cancer tumorigenesis.
Deletion of the rBAT C-terminal disulfide loop (residues 673-685) prevented maturation and prompted degradation of the transporter.
Title: The role of N-glycans and the C-terminal loop of the subunit rBAT in the biogenesis of the cystinuria-associated transporter.
We found a novel mutation in the acceptor region in exon 1 (SLC3A1 gene) and detected a heterozygosity status for the described patients.
Title: A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria.
Five SLC3A1 and SLC7A9 mutations appear to be responsible for the genetic basis of cystinuria in the Greek-Cypriot patients
Title: Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population.
The following SLC3A1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the SLC3A1 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.
| CloneID | OHu19170 |
|
| Clone ID Related Accession (Same CDS sequence) | NM_000341.3 | |
| Accession Version | NM_000341.3 Latest version! | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 2058bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector |  User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | COA |
| ORF Insert Method | CloneEZ® Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2017-12-27 | |
| Organism | Homo sapiens(human) | |
| Product | neutral and basic amino acid transport protein rBAT | |
| Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC013717.8, BC093626.1 and AK223146.1. This sequence is a reference standard in the RefSeqGene project. On May 2, 2008 this sequence version replaced NM_000341.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB033549.1, BC022386.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. | |
1 | ATGGCTGAAG ATAAAAGCAA GAGAGACTCC ATCGAGATGA GTATGAAGGG ATGCCAGACA |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_000332.2 |
| CDS | 79..2136 |
| Misc Feature(1) | 73..75 |
| Misc Feature(2) | 106..108 |
| Misc Feature(3) | 340..402 |
| Misc Feature(4) | 424..1785 |
| Misc Feature(5) | 427..1899 |
| Misc Feature(6) | order(592..594,601..603,712..714,721..723,853..855,910..912,922..924,1018..1020,1228..1230,1420..1425) |
| Misc Feature(7) | order(1018..1020,1228..1230,1423..1425) |
| Exon (1) | 1..508 |
| Exon (2) | 509..688 |
| Exon (3) | 689..843 |
| Exon (4) | 844..969 |
| Exon (5) | 970..1089 |
| Exon (6) | 1090..1214 |
| Exon (7) | 1215..1410 |
| Exon (8) | 1411..1578 |
| Exon (9) | 1579..1695 |
| Exon (10) | 1696..2321 |
| Translation |
Target ORF information:
Target ORF information:
|
 NM_000341.3 |
ORF Insert Sequence:
1 | ATGGCTGAAG ATAAAAGCAA GAGAGACTCC ATCGAGATGA GTATGAAGGG ATGCCAGACA |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| CloneID | OHu60547 | |
| Clone ID Related Accession (Same CDS sequence) | XM_011533047.2 | |
| Accession Version | XM_011533047.2 Latest version! | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 1695bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector | User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
| ORF Insert Method | CloneEZ® Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2016-06-06 | |
| Organism | Homo sapiens(human) | |
| Product | neutral and basic amino acid transport protein rBAT isoform X1 | |
| Comment | Comment: MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_000002.12) annotated using gene prediction method: Gnomon, supported by mRNA and EST evidence. Also see: Documentation of NCBI's Annotation Process On Jun 6, 2016 this sequence version replaced XM_011533047.1. ##Genome-Annotation-Data-START## Annotation Provider :: NCBI Annotation Status :: Full annotation Annotation Version :: Homo sapiens Annotation Release 108 Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline Annotation Software Version :: 7.0 Annotation Method :: Best-placed RefSeq; Gnomon Features Annotated :: Gene; mRNA; CDS; ncRNA ##Genome-Annotation-Data-END## | |
1 | ATGGCTGAAG ATAAAAGCAA GAGAGACTCC ATCGAGATGA GTATGAAGGG ATGCCAGACA |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | XP_011531349.1 |
| CDS | 79..1773 |
| Misc Feature(1) | 424..1695 |
| Misc Feature(2) | 496..1542 |
| Misc Feature(3) | order(592..594,601..603,712..714,721..723,853..855,910..912,922..924,1018..1020,1228..1230,1420..1425) |
| Misc Feature(4) | order(1018..1020,1228..1230,1423..1425) |
| Misc Feature(5) | 1705..>1770 |
| Translation |
Target ORF information:
Target ORF information:
|
XM_011533047.2 |
ORF Insert Sequence:
1 | ATGGCTGAAG ATAAAAGCAA GAGAGACTCC ATCGAGATGA GTATGAAGGG ATGCCAGACA |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
 |
Delineation of cystinuria in Saudi Arabia: A case series. |
|
Cysteine transporter SLC3A1 promotes breast cancer tumorigenesis. |
|
Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. |
|
A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria. |
|
Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population. |