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Recombinant Human Fatty acid desaturase 1 (FADS1)

  • 货号:
    CSB-CF007959HU
  • 规格:
  • 来源:
    in vitro E.coli expression system
  • 其他:

产品详情

  • 基因名:
    FADS1
  • Uniprot No.:
  • 别名:
    FADS1; FADSD5; Acyl-CoA; 8-3-desaturase; Delta(5 fatty acid desaturase; D5D; Delta(5 desaturase; Delta-5 desaturase; Fatty acid desaturase 1
  • 种属:
    Homo sapiens (Human)
  • 蛋白长度:
    full length protein
  • 表达区域:
    1-501
  • 氨基酸序列
    MGTRAARPAGLPCGAENPARRRLALGARQQIHSWSPRTPSTRLTAPAGPARGVARPAMAPDPVAAETAAQGPTPRYFTWDEVAQRSGCEERWLVIDRKVYNISEFTRRHPGGSRVISHYAGQDATDPFVAFHINKGLVKKYMNSLLIGELSPEQPSFEPTKNKELTDEFRELRATVERMGLMKANHVFFLLYLLHILLLDGAAWLTLWVFGTSFLPFLLCAVLLSAVQAQAGWLQHDFGHLSVFSTSKWNHLLHHFVIGHLKGAPASWWNHMHFQHHAKPNCFRKDPDINMHPFFFALGKILSVELGKQKKKYMPYNHQHKYFFLIGPPALLPLYFQWYIFYFVIQRKKWVDLAWMITFYVRFFLTYVPLLGLKAFLGLFFIVRFLESNWFVWVTQMNHIPMHIDHDRNMDWVSTQLQATCNVHKSAFNDWFSGHLNFQIEHHLFPTMPRHNYHKVAPLVQSLCAKHGIEYQSKPLLSAFADIIHSLKESGQLWLDAYLHQ
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签:
    N-terminal 10xHis-tagged
  • 产品提供形式:
    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.
  • 缓冲液:
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 储存条件:
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期:
    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.
  • 货期:
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. 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.
  • 注意事项:
    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.

产品评价

靶点详情

  • 功能:
    Acts as a front-end fatty acyl-coenzyme A (CoA) desaturase that introduces a cis double bond at carbon 5 located between a preexisting double bond and the carboxyl end of the fatty acyl chain. Involved in biosynthesis of highly unsaturated fatty acids (HUFA) from the essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3) precursors. Specifically, desaturates dihomo-gamma-linoleoate (DGLA) (20:3n-6) and eicosatetraenoate (ETA) (20:4n-3) to generate arachidonate (AA) (20:4n-6) and eicosapentaenoate (EPA) (20:5n-3), respectively. As a rate limiting enzyme for DGLA (20:3n-6) and AA (20:4n-6)-derived eicosanoid biosynthesis, controls the metabolism of inflammatory lipids like prostaglandin E2, critical for efficient acute inflammatory response and maintenance of epithelium homeostasis. Contributes to membrane phospholipid biosynthesis by providing AA (20:4n-6) as a major acyl chain esterified into phospholipids. In particular, regulates phosphatidylinositol-4,5-bisphosphate levels, modulating inflammatory cytokine production in T-cells. Also desaturates (11E)-octadecenoate (trans-vaccenoate)(18:1n-9), a metabolite in the biohydrogenation pathway of LA (18:2n-6).; Does not exhibit any catalytic activity toward 20:3n-6, but it may enhance FADS2 activity.
  • 基因功能参考文献:
    1. FADS1 role in the oleic acid metabolism PMID: 29413358
    2. review identified that FADS polymorphism may alter plasma fatty acid composition and play a protective role in the development of type 2 diabetes PMID: 29899246
    3. FADS1/2 SNPs affect dietary fatty acid metabolism in centrally obese postmenopausal Polish women. PMID: 30103441
    4. The results of this population-based study provide evidence for a relationship between lipid regulatory gene polymorphisms including GCKR (rs780094), GCKR (rs1260333), FADS (rs174547), and MLXIPL (rs3812316) with dyslipidemia in an Iranian population. PMID: 29858861
    5. An association was found between the rs174550 FADS1 polymorphism and gestational diabetes mellitus risk. PMID: 28359772
    6. commonly overexpressed COX in cancer (~90% of colon cancer patients) can be taken advantage to suppress cell growth by knocking down delta-5-desaturase (D5D, a key enzyme that converts DGLA to arachidonic acid). In addition, D5D knockdown along with DGLA supplement may enhance the efficacy of chemotherapeutic drugs PMID: 27101738
    7. In minor allele carriers of FADS1 and FADS2, plasma arachidonic acid (ARA) content was elevated only at the highest level of ARA consumed in infant formula. ARA level in plasma is reduced by low ARA consumption and by minor alleles in FADS in infants fed ARA-containing formula. PMID: 27276431
    8. D5D knockdown in conjunction with dihomo-gamma-linolenic acid treatment can also be used to inhibit growth of pancreatic cancer cells via p53 independent pathway. PMID: 27368132
    9. Our results showed that knockdown of delta-5-desaturase along with DGLA supplement not only significantly inhibited cell migration, but also improved the efficacies of 5-flurouracil and gemcitabine, two frontline chemotherapy drugs currently used in the treatment of colon and pancreatic cancer. PMID: 28157665
    10. The majority of CpG sites (117 out of 136, 86%) exhibited high levels of methylation with the greatest variability observed at three key regulatory regions-the promoter regions for FADS1 and FADS2 and a putative enhancer site between the two genes. PMID: 28957329
    11. FADS1 rs174547 and FADS2 rs2727270 genotypes were significantly correlated with decreased HDL-C concentrations, and D5D /D6D activities as estimated as 20:4(n-6)/20:3 (n-6) and 18:3 (n-6)/18:2 (n-6) in a linear pattern in patients with type 2 diabetes PMID: 28555039
    12. Results indicate that genetic variation in the FADS1 gene, rs174546, influences blood pressure via arachidonic acid and body mass index. Thus, polymorphisms with an impact on the delta-5 desaturase activity may play a role for the blood pressure level mediated through polyunsaturated fatty acids and body mass index. PMID: 28732058
    13. FADS1 rs174549 polymorphism and fish consumption may be protective factors for oral cancer, with a gene-diet multiplicative interaction PMID: 28178666
    14. The derived allele of rs174557, which is the common variant in most populations, diminishes binding of PATZ1, a transcription factor conferring allele-specific downregulation of FADS1. PMID: 27932482
    15. a 2-locus constructed haplotype (rs174547-rs174553) affected gamma-linoleic acid and arachidonic acid concentration in breast milk of Chinese women PMID: 27269715
    16. This study showed associations between FADS 1/2 SNPs and cognitive performance. rs1535 minor allele homozygosity and rs174448 major allele carriage associated with improved cognitive performance in 8- to 11-y-old boys but not in girls, thereby counteracting existing sex differences. PMID: 28515069
    17. we determined rs66698963 genotype frequencies from 234 individuals of a primarily vegetarian Indian population and 311 individuals from the US. A much higher I/I genotype frequency was found in Indians (68%) than in the US (18%). A much higher I/I genotype frequency was found in Indians (68%) than in the US (18%). A global I/I genotype of 70% in South Asians, 53% in Africans, 29% in East Asians, and 17% in Europeans PMID: 27188529
    18. An association of FADS1 rs174547 with the fatty acid composition of plasma phospholipids was identified among this Chinese adult population. PMID: 28359317
    19. rs174549 polymorphism is favorable factor in predicting oral cancer progression-free survival in response to chemoradiotherapy PMID: 27542551
    20. the single nucleotide polymorphism rs174547 (T/C) of the fatty acid desaturase-1 gene, FADS1, is associated with changes in arachidonic acid compositions of the blood of elderly Japanese PMID: 26869086
    21. Our results demonstrate that FADS1-FADS2 are susceptibility genes for PCOS. PMID: 26879377
    22. FADS1 rs174546 single nucleotide polymorphism correlation with fatty acids profiles in blood PMID: 26346302
    23. Single nucleotide polymorphisms in FADS gene (particularly rs174537) associate with plasma fatty acids and desaturase levels in patients with both type 2 diabetes and coronary artery disease. PMID: 27004414
    24. FADS1 variants modulate the relationship between marine fatty acid intake and circulating levels of long-chain omega-3 fatty acids. PMID: 26501394
    25. No associations were observed between any single-nucleotide polymorphisms and major depressive disorder diagnosis or attempted suicide status. PMID: 26513616
    26. polymorphisms in the FADS gene cluster were nominally associated with reduced risk of developing atopic eczema PMID: 26633493
    27. genetic association study in population of pregnant women in Republic of Seychelles: SNPs in FADS1/FADS2 are associated with maternal arachidonic acid status; a subtle association exists with neurodevelopment in this high fish-eating population. [REVIEW] PMID: 26474818
    28. Suggest that the FADS1 rs174546 SNP and the FADS2 rs174601 SNP are associated with the risk of coronary artery disease and ischemic stroke, and are likely to influence serum lipid levels. PMID: 26261632
    29. genome-wide association study in population of mother/infant dyads in Denmark: Data suggest SNPs in maternal FADS1 are associated with (1) lower breast milk polyunsaturated fatty acid and (2) higher production of interleukins by infant T-lymphocytes. PMID: 26283408
    30. Dietary fatty acids modulate associations between FADS1 genetic variants and circulating fatty acids in plasma and erythrocyte membranes. PMID: 25626431
    31. Decreased Expression of FADS1 is associated with Esophageal Squamous Cell Carcinoma. PMID: 26163647
    32. High dietary n-3 LCPUFA intakes could negate the unfavorable effect of genetic variation in FADS1 on CAD in middle-aged and elderly Chinese population. PMID: 25849351
    33. Data suggest that down-regulation of FADS1 (delta-5 fatty acid desaturase) and up-regulation of FADS2 (delta-6 fatty acid desaturase) in obesity leads to altered long-chain polyunsaturated fatty acid nutritional status. [META-ANALYSIS, REVIEW] PMID: 25828602
    34. In northern Han Chinese people, the minor allele (T) of rs174616 in the FADS1-FADS2 gene cluster is associated with a decreased conversion rate of Linoleic acid to Arachidonic acid, which may contribute to decreased reduced risk of developing T2 diabetes. PMID: 25981324
    35. Study shows that docosahexaenoic acid (DHA) and arachidonic acid (ARA) levels were lower in pregnant women homozygous for FADS1 rs174533 but after DHA supplementation, ARA level decreases in women homozygous for both FADS1rs174533 and FADS2rs1747575. PMID: 25500337
    36. Fads1 and Fads2 gene expression was reduced by EPA and AA, but not ALA or LA PMID: 25755223
    37. rare alleles of SNPs significantly associated with the accumulation of multiple long-chain fatty acids in the liver PMID: 25123259
    38. examined the impact of a highly influential FADS SNP, rs174537 on leukotriene, HETE, prostaglandin, and thromboxane biosynthesis in stimulated whole blood PMID: 24962583
    39. genetic association study in population of children in Denmark: Data suggest that SNPs in FADS1 (rs1535, rs174448, rs174575) are associated with developmental psychomotor disorders at 30 months of age. PMID: 25080457
    40. Minor allele homozygotes and heterozygotes of rs174575 and rs174537 had lower PL 20:4 omega-6 levels in healthy individuals. PMID: 24985009
    41. maternal rs174556 FADS SNP modified the associations of maternal docosahexaenoic acid (DHA) intake in pregnancy with pregnancy duration and child birth weight PMID: 24991040
    42. These results suggest that genetic variation at the FADS locus can influence an individual's response to fish oil supplements. PMID: 24936800
    43. we found weak, but not convincing, evidence of effect modification by genetic variation in FADS1 on the associations between polyunsaturated fatty acid intakes and cardiovascular disease risk. PMID: 25008580
    44. Recent genome-wide association studies showed that FADS1/FADS2 genetic locus, beyond being the main determinant of PUFA, was strongly associated with plasma lipids and glucose metabolism. PMID: 25038994
    45. ALA intake was significantly more protective for IA in the presence of an increasing number of minor alleles at FADS1 PMID: 24240437
    46. Single-nucleotide polymorphisms in the FADS1 gene is associated with lower arachidonic acid concentrations in the colon. PMID: 24022589
    47. Changes in the mRNA-expression levels of FADS1 and 2 directly affect blood DGLA levels and D6D activity. This study suggests that lower mRNA-expressions of FADS2 and ELOVL5 are associated with higher risk of atopic eczema in young children. PMID: 24167612
    48. Weak evidence suggests that SNPs in FADS1/2 may influence high sensitivity C-reactive protein levels in young adults. PMID: 23867726
    49. We conclude that FADS2 genotype may play a role in peroxidation susceptibility of lipoproteins PMID: 23721366
    50. These data suggested that FADS1 genetic variant was associated with circulating PUFA and lipid levels and that its effect on HDL cholesterol might depend on PUFA status in the Han Chinese population. PMID: 23396965

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  • 亚细胞定位:
    [Isoform 1]: Endoplasmic reticulum membrane; Multi-pass membrane protein. Mitochondrion.; [Isoform 2]: Endoplasmic reticulum membrane; Multi-pass membrane protein.
  • 蛋白家族:
    Fatty acid desaturase type 1 family
  • 组织特异性:
    Widely expressed, with highest levels in liver, brain, adrenal gland and heart. Highly expressed in fetal liver and brain.
  • 数据库链接:

    HGNC: 3574

    OMIM: 606148

    KEGG: hsa:3992

    STRING: 9606.ENSP00000322229

    UniGene: Hs.503546