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Recombinant Human Phosphatidylcholine:ceramide cholinephosphotransferase 1 (SGMS1)

  • 货号:
    CSB-CF801243HU
  • 规格:
  • 来源:
    in vitro E.coli expression system
  • 其他:

产品详情

  • 基因名:
    SGMS1
  • Uniprot No.:
  • 别名:
    SGMS1; MOB; SMS1; TMEM23; Phosphatidylcholine:ceramide cholinephosphotransferase 1; Medulla oblongata-derived protein; Protein Mob; Sphingomyelin synthase 1; Transmembrane protein 23
  • 种属:
    Homo sapiens (Human)
  • 蛋白长度:
    full length protein
  • 表达区域:
    1-419
  • 氨基酸序列
    MLSASTMKEVVYWSPKKVADWLLENAMPEYCEPLEHFTGQDLINLTQEDFKKPPLCRVSS DNGQRLLDMIETLKMEHHLEAHKNGHANGHLNIGVDIPTPDGSFSIKIKPNGMPNGYRKE MIKIPMPELERSQYPMEWGKTFLAFLYALSCFVLTTVMISVVHERVPPKEVQPPLPDTFF DHFNRVQWAFSICEINGMILVGLWLIQWLLLKYKSIISRRFFCIVGTLYLYRCITMYVTT LPVPGMHFNCSPKLFGDWEAQLRRIMKLIAGGGLSITGSHNMCGDYLYSGHTVMLTLTYL FIKEYSPRRLWWYHWICWLLSVVGIFCILLAHDHYTVDVVVAYYITTRLFWWYHTMANQQ VLKEASQMNLLARVWWYRPFQYFEKNVQGIVPRSYHWPFPWPVVHLSRQVKYSRLVNDT
    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
  • 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:
    18-23 business days
  • 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:
    Major sphingomyelin synthase at the Golgi apparatus. Catalyzes the reversible transfer of phosphocholine moiety in sphingomyelin biosynthesis: in the forward reaction transfers phosphocholine head group of phosphatidylcholine (PC) on to ceramide (CER) to form ceramide phosphocholine (sphingomyelin, SM) and diacylglycerol (DAG) as by-product, and in the reverse reaction transfers phosphocholine from SM to DAG to form PC and CER. The direction of the reaction depends on the levels of CER and DAG in Golgi membranes. Does not use free phosphorylcholine or CDP-choline as donor. Regulates receptor-mediated signal transduction via mitogenic DAG and proapoptotic CER, as well as via SM, a structural component of membrane rafts that serve as platforms for signal transduction and protein sorting. Plays a role in secretory transport via regulation of DAG pool at the Golgi apparatus and its downstream effects on PRKD1.
  • 基因功能参考文献:
    1. PECULIARITIES OF THE STRUCTURE AND EXPRESSION OF HUMAN SPHINGOMYELIN SYNTHASE 1 GENE (SGMS1). PMID: 30191692
    2. The inhibition of SMS 1 activity induced CD cells to lose their epithelial phenotype and to undergo an epithelial-mesenchymal transition (EMT) process. PMID: 29128370
    3. the SGMS1 gene exhibits a complex regulation at the post-transcriptional level PMID: 29454087
    4. SMS regulates the expression and function of drug transporters P-gp and MRP2. PMID: 27394416
    5. HepG2 cells stably transfected with SMS1 (HepG2-SMS1) exhibit elevated enzyme activity in vitro and increased sphingomyelin content (mainly C22:0- and C24:0-sphingomyelin) but lower hexosylceramide (Hex-Cer) levels. PMID: 28087695
    6. findings suggest that the C-terminal tails of SMSs are involved in homodimer formation, which is required for efficient transport from the ER. PMID: 27927984
    7. Sphingomyelin synthase 1 positively regulates KCNQ1/KCNE1 channel density in a protein kinase D-dependent manner. PMID: 27194473
    8. A study of the expression of the full-length SMS1 protein and the sum of the alternative transcripts encoding this protein in human tissues. PMID: 25912551
    9. The structural organization of 5'-UTR variants of SGMS1 transcripts, directed by alternative promoters, is substantially different; this can provide regulation of the gene functioning on post-transcriptional level. PMID: 26065260
    10. We found upregulation of specific sphingolipid enzymes, namely sphingomyelin synthase 1 (SMS1), sphingomyelinase 3 (SMPD3), and glucosylceramide synthase (GCS) in the endometrium of endometriotic women. PMID: 24960545
    11. SGMS activity impacts on amyloid precursor protein processing to produce amyloid-beta (Abeta) and it could be a contributing factor in Abeta pathology associated with Alzheimer's disease. PMID: 23977395
    12. The amount of SMS1 transcripts varies considerably between different human tissues. PMID: 24062078
    13. Findings indicate that Sms1 is a downstream target of Bcr-abl, involved in sustaining cell proliferation of Bcr-abl-positive cells. PMID: 23160178
    14. SMS1 and SMS2 are capable of regulating TGN-mediated protein trafficking and secretion PMID: 21980337
    15. Data indicate that the increased sphingomyelin mass was due to a rapid and highly specific activation of sphingomyelin synthases SMS1 and SMS2. PMID: 22106271
    16. SMS1-mediated SM synthesis directs Tf-TfR to undergo clathrin-dependent endocytosis and recycling, promoting the proliferation of lymphoma cells. PMID: 21856749
    17. Our results indicate that the regulation of SMS1 expression is complex and occurs at the transcriptional, post-transcriptional and translational levels. PMID: 21549185
    18. sphingomyelin synthase has a role in controlling the antimicrobial activity of neutrophils against Cryptococcus neoformans PMID: 21203393
    19. Cellular sphingomyelin levels are positively related to cellular cholesterol levels and sphingomyelin synthase overexpression-mediated cellular sphingomyelin content changes are related to cellular Apo A-I content and secretion PMID: 21418611
    20. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 20379614
    21. Altogether, our data show that SMS1 is a novel caspase target that is functionally involved in the regulation of FasL-induced apoptosis. PMID: 19779494
    22. The 1.6 kb Hmob33 clone obtained from the medulla oblongata cDNA library and mapped to the human chromosome 10 was examined to find the coding region(MOB) PMID: 11841947
    23. SMS1 is responsible for SM synthase activity in mammalian cells and plays a critical role in cell growth of lymphoid cells. PMID: 14976195
    24. MOB gene activity is believed to be controlled at least at the transcriptional and the posttranscriptional levels, strictly regulating the amount of the encoded protein product. PMID: 15315829
    25. Adenovirus-mediated SMS1 overexpression increased lipoprotein atherogenic potential. PMID: 16508036
    26. Data show that sphingomyelin synthases SMS1 and SMS2 are co-expressed in a variety of cell types and function as the key Golgi- and plasma membrane-associated SM synthases in human cervical carcinoma HeLa cells, respectively. PMID: 17449912
    27. Overexpression of SMS1 is associated with suppressed ceramide response and apoptotic resistance after photodamage. PMID: 17467659
    28. Results indicate that both synthase (SMS)1 and 2 contribute to sphingomyelin (SM) de novo synthesis and control SM levels in the cells and on the cell membrane including plasma membrane. PMID: 17616479
    29. SMS1 and SMS2 are key factors in the control of sphingomyelin and diacylglycerol metabolism within the cell, and thus they influence apoptosis. PMID: 17982138
    30. SMS1 regulates subcellular pools of diacylglycerol-binding proteins in the Golgi apparatus. PMID: 18370930
    31. Both SMS1 and SMS2 contain two histidines and one aspartic acid which are conserved within the lipid phosphate phosphatase superfamily. Site-directed mutagenesis of these amino acids abolished SMS activity without altering cellular distribution. PMID: 18694848
    32. Impaired TCR signaling through dysfunction of lipid rafts in SMS1-knockdown T cells PMID: 18820264
    33. Results establish the sphingomyelin synthase (SMS1)-related enzyme SMSr as a key regulator of ceramide homeostasis that seems to operate as a sensor rather than a converter of ceramides in the endoplasmic reticulum. PMID: 19506037
    34. Observational study of gene-disease association. (HuGE Navigator) PMID: 16385451

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  • 亚细胞定位:
    Golgi apparatus membrane; Multi-pass membrane protein.
  • 蛋白家族:
    Sphingomyelin synthase family
  • 组织特异性:
    Brain, heart, kidney, liver, muscle and stomach.
  • 数据库链接:

    HGNC: 29799

    OMIM: 611573

    KEGG: hsa:259230

    STRING: 9606.ENSP00000354829

    UniGene: Hs.654698