Recombinant Human Reduced folate transporter (SLC19A1), partial

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Code CSB-EP021429HU
MSDS
Size $306
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  • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
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Product Details

Purity
Greater than 85% as determined by SDS-PAGE.
Target Names
SLC19A1
Uniprot No.
Research Area
Others
Alternative Names
(FOLT)(Cyclic dinucleotide:anion antiporter SLC19A1)(Folate:anion antiporter SLC19A1)(Intestinal folate carrier 1)(IFC-1)(Placental folate transporter)(Reduced folate carrier protein)(RFC)(hRFC)(Reduced folate transporter 1)(RFT-1)(Solute carrier family 19 member 1)(hSLC19A1)
Species
Homo sapiens (Human)
Source
E.coli
Expression Region
420-591aa
Target Protein Sequence
DVRGLGLPVRKQFQLYSVYFLILSIIYFLGAMLDGLRHCQRGHHPRQPPAQGLRSAAEEKAAQALSVQDKGLGGLQPAQSPPLSPEDSLGAVGPASLEQRQSDPYLAQAPAPQAAEFLSPVTTPSPCTLCSAQASGPEAADETCPQLAVHPPGVSKLGLQCLPSDGVQNVNQ
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight
25.5 kDa
Protein Length
Partial
Tag Info
N-terminal 10xHis-tagged and C-terminal Myc-tagged
Form
Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer
If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution
We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time
3-7 business days
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA
Please contact us to get it.
Description

The production of recombinant Human SLC19A1 protein involves manipulating the expression of the desired gene in e.coli cells. The sequence (420-591aa) of foreign DNA is merged with an expression vector and subsequently introduced into e.coli cells. Positive cells are chosen and cultivated to induce the expression of the desired protein. A N-terminal 10xHis tag and C-terminal Myc tag is fused to the protein. The resulting recombinant Human SLC19A1 protein undergoes purification through affinity purification, with a purity exceeding 85%, as confirmed by SDS-PAGE.

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Target Background

Function
Transporter that mediates the import of reduced folates and a subset of cyclic dinucleotides. Has high affinity for N5-methyltetrahydrofolate, the predominant circulating form of folate. Also able to mediate the import of antifolate drug methotrexate. Acts as an importer of immunoreactive cyclic dinucleotides, such as cyclic GMP-AMP (2'-3'-cGAMP), an immune messenger produced in response to DNA virus in the cytosol, and its linkage isomer 3'-3'-cGAMP. Mechanistically, acts as an antiporter, which export of intracellular organic anions to facilitate uptake of its substrates. 5-amino-4-imidazolecarboxamide riboside (AICAR), when phosphorylated to AICAR monophosphate, can serve as an organic anion for antiporter activity.
Gene References into Functions
  1. miR-595 acts as a phenotypic regulator of methotrexate sensitivity in CEM/C1 cells by targeting SLC19A1. PMID: 29345051
  2. RFC, IL15 and VDR germline variants are associated with minimal residual disease in pediatric B-cell precursor ALL PMID: 27427275
  3. We identified eight novel variants in SLC19A1 and twelve novel variants in FOLR1, FOLR2, and FOLR3. Pathogenic variants include c.1265delG in SLC19A1 resulting in an early stop codon, four large insertion deletion variants in FOLR3, and a stop_gain variant in FOLR3 PMID: 28948692
  4. Reduced SLC19A1 expression in human adipocytes induces DNA hypermethylation, resulting in increased expression of specific proinflammatory genes, including CCL2. This constitutes an epigenetic mechanism that might link dysfunctional adipocytes to white adipose tissue inflammation and Insulin resistance. PMID: 29121255
  5. data suggested that the RFC1 A80G G allele was an APOE 4-independent risk factor for late-onset Alzheimer's disease (AD PMID: 18258338
  6. The presence of the genetic polymorphism of RCF1 is a maternal risk factor for Down syndrome in Brazil. PMID: 18273817
  7. The results of this study suggest that genetic variants of methionine metabolism are associated with meningioma formation PMID: 18447718
  8. MTHFR 677C/T and RFC1 80G/A polymorphisms may serve as predictors of toxicity during maintenance chemotherapy in childhood acute lymphoblastic leukemia or lymphoma. PMID: 18458567
  9. Neonatal RFC1 polymorphism influenced total homocysteinein neonates PMID: 18823966
  10. There was an association between RFC1 A80G variant and the risk of nonsymdromic cleft lip with or without palate. PMID: 19548564
  11. the A80G polymorphism of reduced folate carrier 1 (RFC1) gene may have a role in head and neck squamous cell carcinoma PMID: 20661649
  12. the G80A mutation in the RFC1 gene is associated with a greater risk for sporadic breast cancer and oxidative DNA damage PMID: 21113649
  13. We demonstrated no difference in tHcy, folates, vitamin B12 levels and allelic frequencies of C677T and G80A polymorphisms in MTHFR and RFC genes between obese and no obese Tunisian children. PMID: 21681722
  14. 677T and 1298C alleles of MTHFR and G80 RFC-1 show association with hyperhomocysteinemia. PMID: 21878957
  15. High RFC1 is associated with adenocarcinoma in non-small-cell lung carcinoma EGFR [corrected] mutation. PMID: 22729036
  16. Data suggest that genotypes for the MTHFR C677T and RFC rs1051266 polymorphism might be associated with the risk of conotruncal heart defects. PMID: 22868813
  17. These data suggest a role of the polymorphism G80A in RFC1 in the risk of relapse and the mortality risk in patients with acute lymphoblastic leukemia. PMID: 22914600
  18. The presence of the mutant MTHFR 1298C and also RFC 80A was linked to a decreased risk of developing chidlhood acute lymphoid leukemia (ALL). PMID: 23336575
  19. The combined presence of RFC1 mutant alleles and the cystathionine b-synthase homozygous mutant allele was associated with a 4.81-fold increased risk of having a child with Down syndrome (95 % CI 1.82-12.68, P = 0.0007). PMID: 23430030
  20. Maternal RFC-1 80A>G polymorphism might be associated with an increased risk of having a birth with Down Syndrome. [Meta-analysis] PMID: 23857226
  21. One-carbon genetic variants influence epigenetic of MHC2TA and RFC1, thus contributing to phenotypic heterogeneity of systemic lupus erythematosus. PMID: 24333266
  22. 3 biallelic polymorphic variants (rs1051266, rs4818789 and rs3788205) were selected. Results provided support suggesting role of RFC1 in NSCL/P etiology, reinforcing idea genetic predisposition to NSCL/P varies in different ethnic groups. PMID: 24942095
  23. The frequency of RFC-1 rs1051266 (G80A) was 58.4% and 57.1% in children with nephroblastoma and neuroblastoma, respectively. Mother and child G80A genotypes play a role in the risk of neuroblastoma and nephroblastoma. PMID: 25536437
  24. The MTHFR 677CC and GGH 401TT and CT genotypes were associated with a reduction in the number of MTX-related adverse events PMID: 25599563
  25. this is the first study to simultaneously evaluate both DNA methylation and protein expression of all three folate transporter genes, FOLR1, PCFT, and RFC1, in colorectal cancer. PMID: 25697897
  26. We found that the compound mutation genotypes MTHFD-G1958A, MTR-A2756G, and RFC1-G80A increased the risk of preterm birth (OR = 2.88, 95%CI = 1.08-7.72, P = 0.028). PMID: 25730024
  27. RFC-1 80G > A gene polymorphism is not associated with methotrexate treatment response in South Indian Tamils with rheumatoid arthritis PMID: 25771854
  28. We conclude that bearing allele G of rs1051266 polymorphism in RFC1 may contribute to increased efficacy of MTX treatment and may contribute to improved outcome in osteosarcoma patients PMID: 25778468
  29. this meta-analysis shows that RFC1 gene polymorphism is associated with responsiveness to methotrexate therapy, but may not be associated with methotrexate toxicity in rheumatoid arthritis patients PMID: 27233001
  30. in this study, we did not find any significant associations between Rheumatoid Arthritis or Rheumatoid Arthritis characteristics such as activity disease and polymorphisms MTRR A66G, RFC1 G80A, and MTHFR C677T and A1298C. PMID: 28994615
  31. Genetic variants of SLC19A1 may be associated with risks for childhood ASD. PMID: 28536923
  32. Among the analysed polymorphisms, only the reduced folate carrier 1 (RFC1; SLC19A1) gene 80G>A polymorphism influenced the survival rate in primary liver cancers. PMID: 27936032
  33. Cognition of adults aged from 55 to 90 was associated with MTHFR, SLC19A1 gene polymorphism and serum homocysteine levels. PMID: 27783031
  34. Polymorphisms and haplotypes of the SLC19A1 gene can be considered risk factors for idiopathic recurrent pregnancy loss. PMID: 26959650
  35. results supported a role of the SLC19A1 gene in the etiology of Autism Spectrum Disorder, it was not a significant risk factor for the Autism Spectrum Disorder samples analyzed in this study. PMID: 27213354
  36. We conclude that SLC46A1/PCFT and SLC19A1/RFC-1 are associated with DFS of patients with colorectal cancer and hypothesize that poor response to 5-fluorouracil plus leucovorin therapy in some patients may be linked to low expression of these genes. PMID: 26193446
  37. SLC19A1 expression was associated with increased risk of relapse or death, and SLC19A1 expression retained prognostic significance independent of age, disease stage and MYCN amplification. PMID: 25860940
  38. Our findings support the hypothesis that RFC1 A80G variant may contribute to non-syndromic cleft lip and palate susceptibility in a south Indian population. PMID: 24749799
  39. the RFC-1 -43C>T, 80A>G, and 696T>C polymorphisms may be risk factors for ischemic stroke. PMID: 25659099
  40. SLC19A1 rs1051266 GG/GA genotype is associated with first trimester fever. PMID: 24917213
  41. SLC19A1 rs1051296 G>T, a miRNA binding site polymorphism, was associated with increased plasma methotrexate concentrations in Chinese children with acute lymphoblastic leukemia. PMID: 24927955
  42. SLC19A1 genotype may help to identify patients with increased risk of methotrexate-related toxicity. PMID: 25124723
  43. The reduced RFC mRNA expression in paclitaxel-resistant osteosarcoma cells may be related to the decrease in intracellular methotrexate concentration. PMID: 25078587
  44. A significant association was detected between the MTHFR A1298C/ RFC G80A genotype and a nonpredisposition to acute lymphoblastic leukemia. PMID: 24237708
  45. Present results do not support a role for the RFC-1 c.80G>A polymorphism as independent risk factor for sporadic AD in Italian Caucasians PMID: 24995314
  46. SLC19A1 80G carriers had increased risk of gastrointestinal toxicity. PMID: 24350725
  47. The molecular bases for methotrexate resistance associated with loss of SLC19A1 transport and for hereditary folate malabsorption, attributable to mutant SLC46A1, were determined (review). PMID: 24396145
  48. No direct association was found between variant (G) allele or genotype of rs1051266 with Alzheimer disease and vascular dementia cases. Gene polymorphism was not associated with serum folate level. PMID: 24554143
  49. Results suggest that genetic polymorphisms in MDR1 and RCF1 the toxicity but not the response of methotrexate treatment. PMID: 25074866
  50. RFC1 80G>A is a genetic determinant of methotrexate efficacy in rheumatoid arthritis. PMID: 24782176

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Subcellular Location
Cell membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein. Basolateral cell membrane; Multi-pass membrane protein.
Protein Families
Reduced folate carrier (RFC) transporter (TC 2.A.48) family
Tissue Specificity
Placenta, liver, and to a much smaller extent, in lung.
Database Links

HGNC: 10937

OMIM: 600424

KEGG: hsa:6573

STRING: 9606.ENSP00000308895

UniGene: Hs.736903

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