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  4. Recombinant Human Sulfatase-modifying factor 1 (SUMF1)

Recombinant Human Sulfatase-modifying factor 1 (SUMF1)

  • 中文名称：
    人SUMF1重组蛋白
  • 货号：
    CSB-YP822751HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人SUMF1重组蛋白
  • 货号：
    CSB-EP822751HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人SUMF1重组蛋白
  • 货号：
    CSB-EP822751HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    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.

  • 其他：
  • 中文名称：
    人SUMF1重组蛋白
  • 货号：
    CSB-BP822751HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人SUMF1重组蛋白
  • 货号：
    CSB-MP822751HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    SUMF1
  • Uniprot No.：
  • 别名：
    MGC150436; AAPA3037; C alpha formylglycine generating enzyme 1; C-alpha-formylglycine-generating enzyme 1; FGE; FGly generating enzyme; MGC131853; Sulfatase modifying factor 1 [Precursor]; Sulfatase-modifying factor 1; SUMF1; SUMF1_HUMAN; UNQ3037
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length of Mature Protein
  • 表达区域：
    34-374
  • 氨基酸序列
    SQEAGTG AGAGSLAGSC GCGTPQRPGA HGSSAAAHRY SREANAPGPV PGERQLAHSK MVPIPAGVFT MGTDDPQIKQ DGEAPARRVT IDAFYMDAYE VSNTEFEKFV NSTGYLTEAE KFGDSFVFEG MLSEQVKTNI QQAVAAAPWW LPVKGANWRH PEGPDSTILH RPDHPVLHVS WNDAVAYCTW AGKRLPTEAE WEYSCRGGLH NRLFPWGNKL QPKGQHYANI WQGEFPVTNT GEDGFQGTAP VDAFPPNGYG LYNIVGNAWE WTSDWWTVHH SVEETLNPKG PPSGKDRVKK GGSYMCHRSY CYRYRCAARS QNTPDSSASN LGFRCAADRL PTMD
  • 蛋白标签：
    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.
  • 产品提供形式：
    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.
  • 复溶：
    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.
  • 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：
    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 ：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Oxidase that catalyzes the conversion of cysteine to 3-oxoalanine on target proteins, using molecular oxygen and an unidentified reducing agent. 3-oxoalanine modification, which is also named formylglycine (fGly), occurs in the maturation of arylsulfatases and some alkaline phosphatases that use the hydrated form of 3-oxoalanine as a catalytic nucleophile. Known substrates include GALNS, ARSA, STS and ARSE.
  • 基因功能参考文献：
    1. We show that SUMF1 expression is affected in COPD patients compared to controls, and that SNPs in SUMF1 are associated with an increased risk of COPD. Certain COPD-associated SNPs have effects on either SUMF1 gene expression or on lung function. Collectively, this study shows that SUMF1 is associated with an increased risk of developing COPD. PMID: 28464818
    2. SUMF1 catalyses a monooxygenase type of reaction. PMID: 26077311
    3. This detailed clinical description and follow-up of a cohort of patients, together with the molecular characterisation of their underlying defects, contribute to improved knowledge of multiple sulfatase deficiency. PMID: 25885655
    4. MSD presenting in the newborn period with hypotonia, apnoea, cyanosis and rolling eyes, hepato-splenomegaly and deafness. This patient was compound heterozygous for two so far undescribed SUMF1 mutations (c.191C > A; p.S64X and c.818A > G; p.D273G PMID: 25516103
    5. The complete kinetic parameters for both forms of FGE are described, along with a proposed mechanism for FGE catalysis that accounts for the copper-dependent activity. PMID: 25931126
    6. A novel missense mutation & an insertional truncating mutation in SUMF1 gene causing nultiple sulphatase deficiency. PMID: 25222778
    7. furin-mediated processing of FGE during secretion is a physiological means of higher eukaryotic cells to regulate FGE activity upon exit from the endoplasmic reticulum PMID: 23288839
    8. Phenotypic outcome in Multiple Sulfatase Deficiency depends on both residual FGE activity as well as protein stability. PMID: 21224894
    9. This study identified genetic variation of SUMF1 in genes associated with in vivo glutamate measured using 1H magnetic resonance spectroscopic imaging in the grey matter of patients with multiple sclerosis. PMID: 20802204
    10. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 20802204
    11. mutational analysis of SUMF1 in 20 Multiple sulfatase deficiency patients of different ethnic origin PMID: 15146462
    12. characterization of the human Calpha-formylglycine-generating enzyme PMID: 15657036
    13. FGE is a single-domain monomer with a surprising paucity of secondary structure and adopts a unique fold. The effect of all 18 missense mutations found in MSD patients is explained by the FGE structure, providing a molecular basis of MSD. PMID: 15907468
    14. Sulphatase-modifying factor 1 interacts with SUMF2 to regulate sulphatase activities PMID: 15962010
    15. co-delivery of SUMF1 may enhance the efficacy of gene therapy in several sulfatase deficiencies PMID: 17206939
    16. study demonstrates that upon secretion, SUMF1 can be taken up from the medium by several cell lines; following its uptake, SUMF1 shuttles from the plasma membrane to the endoplasmic reticulum PMID: 17446859
    17. Complete loss of SUMF1 function is likely to be lethal in humans. PMID: 17657823
    18. Our data provide evidence that haploinsufficiency of ITPR1 alone, but not SUMF1, causes SCA16 and SCA15. PMID: 17932120
    19. Molecular analysis of sulfatase modifying factor 1 mutations. PMID: 18157819
    20. ERp44-mediated retention of FGE, indicating that noncovalent interactions between ERp44 and FGE are sufficient to mediate ER retention. PMID: 18178549
    21. the non-catalytic N-terminal extension of formylglycine-generating enzyme is required for its biological activity and retention in the endoplasmic reticulum PMID: 18305113
    22. Study shows that SUMF1 interacts with protein disulfide isomerase (PDI) and ERp44, two thioredoxin family members residing in the early secretory pathway, and with ERGIC-53, a lectin that shuttles between the ER and the Golgi. PMID: 18508857
    23. This study present clinical findings of two consanguineous patients with multiple sulfatase deficiency. They were found to be homozygous for a novel missense mutation c.739G > C causing a p.G247R amino acid substitution in the SUMF1 protein. PMID: 18509892
    24. We have identified a 414-kb deletion including the entire ITPR1 and exon 1 of SUMF1 in patients in a Japanese family with Spinocerebellar ataxia type 15. PMID: 18579805

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  • 相关疾病：
    Multiple sulfatase deficiency (MSD)
  • 亚细胞定位：
    Endoplasmic reticulum lumen.
  • 蛋白家族：
    Sulfatase-modifying factor family
  • 组织特异性：
    Ubiquitous. Highly expressed in kidney, pancreas and liver. Detected at lower levels in leukocytes, lung, placenta, small intestine, skeletal muscle and heart.
  • 数据库链接：

    HGNC: 20376

    OMIM: 272200

    KEGG: hsa:285362

    STRING: 9606.ENSP00000272902

    UniGene: Hs.350475