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SPTLC1 Antibody

  • 货号：
    CSB-PA022639GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    O15269
  • 基因名：
    SPTLC1
  • 别名：
    SPTLC1; LCB1; Serine palmitoyltransferase 1; Long chain base biosynthesis protein 1; LCB 1; Serine-palmitoyl-CoA transferase 1; SPT 1; SPT1
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human SPTLC1
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IHC
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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