Recombinant Human Monofunctional C1-tetrahydrofolate synthase, mitochondrial (MTHFD1L), partial

Code CSB-YP754385HU
MSDS
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Source Yeast
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Code CSB-EP754385HU
MSDS
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Source E.coli
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Code CSB-EP754385HU-B
MSDS
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP754385HU
MSDS
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Source Baculovirus
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Code CSB-MP754385HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
MTHFD1L
Uniprot No.
Alternative Names
10-formyl-THF synthetase; C1TM_HUMAN; Formyltetrahydrofolate synthetase; formyltetrahydrofolate synthetase domain containing 1; FTHFSDC1; methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like; mitochondrial; Monofunctional C1-tetrahydrofolate synthase; MTC1THFS; MTHFD1L; RP1-292B18.2
Species
Homo sapiens (Human)
Protein Length
Partial
Tag Info
Tag type will be determined during the manufacturing process.
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form
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 before Lyophilization
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
Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet
Please contact us to get it.

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Target Background

Function
May provide the missing metabolic reaction required to link the mitochondria and the cytoplasm in the mammalian model of one-carbon folate metabolism in embryonic an transformed cells complementing thus the enzymatic activities of MTHFD2.
Gene References into Functions
  1. MTHFD1L protein and RNA expression levels were significantly upregulated in esophageal squamous cell carcinoma tissue as compared with normal tissue. High expression of MTHFD1 was also detected in two esophageal cancer cell lines (TE-1 and EC109). PMID: 29171320
  2. study identifies MTHFD1L in the folate cycle as an important metabolic pathway in cancer cells with the potential for therapeutic targeting PMID: 28394261
  3. Studies reported that the A allele of a polymorphism in a gene involved in folate metabolism, MTHFD1L, showed a genome-wide significant association with late-onset Alzheimer's Disease. PMID: 26926881
  4. rs6922269 variant at MTHFD1L gene could be an important prognostic factor for cardiovascular mortality in patients after ACS. PMID: 25809277
  5. MTHFD1L rs6922269 genotype is associated with active vitamin B12 levels at baseline and may be a marker of prognostic risk in patients with established coronary heart disease. PMID: 24618918
  6. Results indicate that miR-9 and MiR-197 specifically downregulate MTHFD1L in HEK293 and MCF-7 cells and that SNPrs7646 affects miR-197 binding to the MTHFD1L 3' UTR causing gene repression in the presence of the allele associated with neural tube defects. PMID: 24123340
  7. The rs3832406 polymorphism was associated with isolated cleft lip with or without cleft palate.(MTHFD1L) PMID: 22520921
  8. This study support a role of MTHFD1L gene in late-onset Alzheimer's disease in a Northern Han Chinese population. PMID: 22330827
  9. No evidence of association between the MTHFD1L marker and susceptibility to Alzheimer's disease is found in a sample from a Spanish population. PMID: 21383495
  10. Prevalence of minor allele A (adenosine) in rs11754661 single nucleotide polymorphism of MTHFD1L contributes to the risk of Alzheimer's disease in a Han population of mainland China. PMID: 21741665
  11. mitochondrial C1-tetrahydrofolate synthase gene structure and tissue distribution PMID: 12937168
  12. association of rs6922269 with coronary heart disease not replicated in Tunisian sample PMID: 19373437
  13. Two of the three alleles of rs3832406 are functionally different and influence the splicing efficiency of the alternate MTHFD1L mRNA transcripts. PMID: 19777576
  14. Overexpression of C1-tetrahydrofolate synthase in fetal Down syndrome brain at the early second trimester may indicate abnormal folate metabolism and may reflect folate deficiency. PMID: 15068241
  15. Gene encodes the mitochondrial isozyme of C1-tetrahydrofolate (THF) synthase, a monofunctional enzyme containing formyl-THF synthetase activity. PMID: 16171773

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Subcellular Location
Mitochondrion.
Protein Families
Tetrahydrofolate dehydrogenase/cyclohydrolase family; Formate--tetrahydrofolate ligase family
Tissue Specificity
Detected in most tissues, highest expression found in placenta, thymus and brain. Low expression is found in liver and skeletal muscle. Up-regulated in colon adenocarcinoma.
Database Links

HGNC: 21055

OMIM: 611427

KEGG: hsa:25902

STRING: 9606.ENSP00000356290

UniGene: Hs.591343

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