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  4. Recombinant Human Serine palmitoyltransferase 1 (SPTLC1)

Recombinant Human Serine palmitoyltransferase 1 (SPTLC1)

  • 货号：
    CSB-CF022639HU
  • 规格：
  • 来源：
    in vitro E.coli expression system
  • 其他：

产品详情

  • 基因名：
    SPTLC1
  • Uniprot No.：
  • 别名：
    SPTLC1; LCB1; Serine palmitoyltransferase 1; Long chain base biosynthesis protein 1; LCB 1; Serine-palmitoyl-CoA transferase 1; SPT 1; SPT1
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-473
  • 氨基酸序列
    MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEELIEEWQPEPLVPPVPKDHPALNYNIVSGPPSHKTVVNGKECINFASFNFLGLLDNPRVKAAALASLKKYGVGTCGPRGFYGTFDVHLDLEDRLAKFMKTEEAIIYSYGFATIASAIPAYSKRGDIVFVDRAACFAIQKGLQASRSDIKLFKHNDMADLERLLKEQEIEDQKNPRKARVTRRFIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVLGEHGRGVTEHYGINIDDIDLISANMENALASIGGFCCGRSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENPGIFAVLKEKCGQIHKALQGISGLKVVGESLSPAFHLQLEESTGSREQDVRLLQEIVDQCMNRSIALTQARYLEKEEKCLPPPSIRVVVTVEQTEEELERAASTIKEVAQAVLL
    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：
    Serine palmitoyltransferase (SPT). The heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference. Required for adipocyte cell viability and metabolic homeostasis.
  • 基因功能参考文献：
    1. Therefore, SPT may be an attractive therapeutic anti-cancer drug target for which compound-2 may be a promising new drug. PMID: 28108287
    2. Hereditary sensory and autonomic neuropathy type 1 mutations in SPTLC1 have distinct biochemical properties, which allowed for the prediction of the clinical symptoms on the basis of the plasma sphingoid base profile. PMID: 26681808
    3. This study describe aberrant morphology of SPTLC1C133W Dorsal Root Ganglia characterized by increased neurite growth, branching, and expression of p-ERM at neuronal growth cones. PMID: 26446223
    4. A novel SPTLC2-S384F variant in 2 unrelated HSAN1 families resulted in elevated plasma 1-deoxySL levels. Expression of this mutant in HEK293 cells increased 1-deoxySL formation. The substrate specificity is affected by phosphorylation at this position. PMID: 25567748
    5. Therefore, Ser331 in SPTLC1 is a crucial amino acid, which characterizes the Hereditary sensory and autonomic neuropathy type I phenotype PMID: 24247255
    6. SPTLC1 mutations cause mitochondrial abnormalities and ER stress in HSN1 cells. PMID: 24673574
    7. Endoplasmic reticulum-resident human protein serine palmitoyltransferase long chain-1 (SPTLC1) is phosphorylated at Tyr(164) by the tyrosine kinase ABL. PMID: 23629659
    8. The p.CYS133Trp mutation in SPTLC1 is the most common cause of hereditary and autonomic neuropathy in the United Kingdom population. PMID: 22302274
    9. SPTLC1 mutations p.S331F and p.A352V result in a reduction of serine palmitoyltransferase activity in vitro and are associated with increased levels of the deoxysphingoid in patients' plasma samples. PMID: 21618344
    10. Hereditary sensory neuropathy type 1 is caused by a gain of function mutation in SPTLC1 which causes the accumulation of two neurotoxic sphingolipids PMID: 20097765
    11. an increase in transepidermal water loss is an obligatory trigger for the upregulation of serine palmitoyltransferase mRNA expression in human epidermis PMID: 12445191
    12. A novel missense mutation in exon 13 of the SPTLC1 gene (c.1160G-->C; p.G387A) in twin sisters with a severe HSN I phenotype is reported. PMID: 15037712
    13. SPT1 aggregation preceded cell death in hypoxia and represents the first evidence of acute protein aggregation during hypoxia. PMID: 15467453
    14. Transgenic mouse lines that ubiquitously overexpress either wild-type or mutant SPTLC1 represent a novel mouse model of peripheral neuropathy and confirm the link between mutant SPT and neuronal dysfunction. PMID: 16210380
    15. Results suggest that functional serine palmitoyltransferase is not a dimer, but a higher organized complex, composed of three distinct subunits (SPTLC1, SPTLC2 and SPTLC3) with a molecular mass of 480 kDa. PMID: 17331073
    16. serine palmitoyltransferase and ceramidase are two major ceramide metabolizing enzymes that may have roles in psoriatic epidermis PMID: 17982236
    17. SPTLC1 mutational analysis reveals the C133W mutation, a mutation common in British hereditary sensory and autonomic neuropathy type I patients. PMID: 18018475
    18. Physical interaction of ABCA1 and SPTLC1 results in reduction of ABCA1 activity and that inhibition of this interaction produces enhanced cholesterol efflux. PMID: 18484747
    19. we show that none of the HSAN I mutations interferes with serine palmitoyltransferase complex formation; the G387A mutation is most likely not directly associated with Hereditary sensory neuropathy type 1 PMID: 19132419
    20. SPT subunit 1 might be present also in focal adhesions and the nucleus. PMID: 19362163
    21. discovery of 2 proteins, ssSPTa and ssSPTb, which each interacts with both hLCB1 and hLCB2, suggesting that there are 4 distinct human SPT isozymes. PMID: 19416851
    22. Cell polarity factor Par3 binds SPTLC1 and modulates monocyte serine palmitoyltransferase activity and chemotaxis PMID: 19592499
    23. Adult-onset hereditary sensory and autonomic neuropathy type (HSAN)I is the hypothetical result of a gain-of-function mutation in SPTLC1 that leads to accumulation of a toxic metabolite. PMID: 19923297

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  • 相关疾病：
    Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A)
  • 亚细胞定位：
    Endoplasmic reticulum membrane; Single-pass membrane protein.
  • 蛋白家族：
    Class-II pyridoxal-phosphate-dependent aminotransferase family
  • 组织特异性：
    Widely expressed. Not detected in small intestine.
  • 数据库链接：

    HGNC: 11277

    OMIM: 162400

    KEGG: hsa:10558

    STRING: 9606.ENSP00000262554

    UniGene: Hs.90458