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  4. Recombinant Human Acid ceramidase (ASAH1)

Recombinant Human Acid ceramidase (ASAH1)

In Stock
  • 货号：
    CSB-EP619774HU
  • 规格：
    ￥1344
  • 图片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

产品详情

  • 纯度：
    Greater than 90% as determined by SDS-PAGE.
  • 基因名：
  • Uniprot No.：
  • 别名：
    AC; ACDase; Acid CDase; Acid ceramidase; Acid ceramidase precursor; Acid ceramidase subunit beta; Acylsphingosine deacylase; ASAH 1; ASAH; ASAH1; ASAH1_HUMAN; FLJ21558; FLJ22079; N acylsphingosine amidohydrolase (acid ceramidase) 1; N acylsphingosine amidohydrolase 1; N acylsphingosine amidohydrolase; N-acylsphingosine amidohydrolase; N-acylsphingosine deacylase; PHP; PHP32; Putative 32 kDa heart protein; SMAPME
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length of Mature Protein
  • 来源：
    E.coli
  • 分子量：
    58.7kDa
  • 表达区域：
    22-395aa
  • 氨基酸序列
    QHAPPWTEDCRKSTYPPSGPTYRGAVPWYTINLDLPPYKRWHELMLDKAPVLKVIVNSLKNMINTFVPSGKIMQVVDEKLPGLLGNFPGPFEEEMKGIAAVTDIPLGEIISFNIFYELFTICTSIVAEDKKGHLIHGRNMDFGVFLGWNINNDTWVITEQLKPLTVNLDFQRNNKTVFKASSFAGYVGMLTGFKPGLFSLTLNERFSINGGYLGILEWILGKKDVMWIGFLTRTVLENSTSYEEAKNLLTKTKILAPAYFILGGNQSGEGCVITRDRKESLDVYELDAKQGRWYVVQTNYDRWKHPFFLDDRRTPAKMCLNRTSQENISFETMYDVLSTKPVLNKLTVYTTLIDVTKGQFETYLRDCPDPCIGW
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 6xHis-SUMO-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：
    Tris-based buffer,50% glycerol
  • 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：
    3-7 business days
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • 产品描述：
        酸性神经鞘脂酶（ASAH1）是鞘脂代谢的关键酶，其主要功能是水解神经酰胺，生成鞘氨醇，继而代谢为鞘氨醇-1-磷酸(S1P)。神经酰胺是鞘磷脂代谢中心分子，传递生长阻滞与凋亡。S1P能促进细胞增殖及抑制细胞凋亡。ASAH1在许多生理过程中发挥着重要作用，包括神经发育、神经元存活、突触可塑性和突触强度。此外，ASAH1还参与了一些疾病的发病机制，比如Farber lipogranulomatosis (FL) [MIM:228000], 也被称为Farber病，这是一种由于鞘脂代谢紊乱引起的遗传性疾病，表现为皮下脂质沉积结节、关节疼痛和四肢剧痛，以及大量鞘氨醇-1-磷酸在溶酶体中累积。
        j9九游会登录入口首页生物提供大肠杆菌表达系统表达的全长重组人酸性神经鞘脂酶（ASAH1）蛋白，助您进行相关疾病的研究工作。
  • Datasheet & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Lysosomal ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at acidic pH. Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation. Has a higher catalytic efficiency towards C12-ceramides versus other ceramides. Also catalyzes the reverse reaction allowing the synthesis of ceramides from fatty acids and sphingosine. For the reverse synthetic reaction, the natural sphingosine D-erythro isomer is more efficiently utilized as a substrate compared to D-erythro-dihydrosphingosine and D-erythro-phytosphingosine, while the fatty acids with chain lengths of 12 or 14 carbons are the most efficiently used. Has also an N-acylethanolamine hydrolase activity. By regulating the levels of ceramides, sphingosine and sphingosine-1-phosphate in the epidermis, mediates the calcium-induced differentiation of epidermal keratinocytes. Also indirectly regulates tumor necrosis factor/TNF-induced apoptosis. By regulating the intracellular balance between ceramides and sphingosine, in adrenocortical cells, probably also acts as a regulator of steroidogenesis.; May directly regulate steroidogenesis by binding the nuclear receptor NR5A1 and negatively regulating its transcriptional activity.
  • 基因功能参考文献：
    1. Acid ceramidase plays a critical role in acute myeloid leukemia cell survival via regulation of both sphingolipid levels and Mcl-1. PMID: 27825124
    2. Collectively, our data show the novel discovery of anti-inflammatory and anti-apoptotic effects of acid ceramidase in host cells exposed to periodontal bacteria, and the attenuation of the expression of host-protective acid ceramidase in periodontal lesions. PMID: 29278706
    3. we describe an individual with a sporadic atypical spinal muscular atrophy, in whom clinical DNA sequencing reported one pathogenic ASAH1 mutation .Transcriptome sequencing on patient leukocytes identified a highly significant and atypical ASAH1 isoform not explained by c.458A>G(p<10(-16) ). PMID: 28251733
    4. ASAH1 variant Leu401Pro co-segregates with keloid phenotype in a large Yoruba family. PMID: 28905881
    5. We report an atypical presentation of Farber disease with her pathology and associated genetic defect. This case expands the phenotypic spectrum of Farber disease to include novel mutations of ASAH1, which pose a diagnostic challenge. PMID: 27411168
    6. This study describes for the first time the association between ASAH1 variants and an adult SMA phenotype with no myoclonic epilepsy nor death in early age, thus expanding the phenotypic spectrum of ASAH1-related SMA. PMID: 27026573
    7. Our findings indicate that hypomorphic mutations in ASAH1 may result in an osteoarticular phenotype with a juvenile phase resembling rheumatoid arthritis that evolves to osteolysis as the final stage in the absence of neurologic signs. This observation delineates a novel type of recessively inherited peripheral osteolysis and illustrates the long-term skeletal manifestations of acid ceramidase deficiency (Farber's disease PMID: 26945816
    8. The present report describes a 9-year-old girl with novel clinical phenotype of a patient with polyarticular arthritis followed by symptoms of SMA due to acid ceramidase deficiency. Whole exome sequencing identified compound heterozygous pathogenic mutation in the N-acylsphingosine amidohydrolase 1 gene. PMID: 27650050
    9. Data suggest up-regulation of ASAH1 activity by androgen in androgen-sensitive prostate cancer cells (not other cancer cells) is due to prolonged stability of ASAH1 by androgen-stimulated induction of USP2 (ubiquitin specific peptidase 2) expression. PMID: 25888580
    10. AC-controlled sphingolipid metabolism may play an important role in the control of melanoma proliferation PMID: 26553872
    11. Genetic or pharmacological acid ceramidase inhibition promotes cisplatin cytotoxicity in head and neck tumor cells. PMID: 26687835
    12. high ASAH1 expression is generally associated with an improved prognosis in invasive breast cancer independent of adjuvant treatment and could also be valuable as prognostic factor for pre-invasive DCIS. PMID: 25131496
    13. novel ASAH1 mutations affecting polypyrimidine tract deletion, and exon skipping and resulting in Farber lipogranulomatosis PMID: 24355074
    14. Acid ceramidase promotes nuclear export of PTEN through sphingosine 1-phosphate mediated Akt signaling. PMID: 24098536
    15. This work unravels for the first time the mutations underlying the neonatal form of Farber disease and represents the first report of a large deletion identified in the ASAH1 gene. PMID: 23707712
    16. Immunohistochemical analysis of human prostate cancer tissues revealed higher levels of ASAH1 after radiotherapy failure. PMID: 24091326
    17. These observations confirm ASAH1 as a therapeutic target in advanced and chemoresistant forms of prostate cancer PMID: 23423838
    18. Acid ceramidase is a prognostic factor in epithelial ovarian cancer PMID: 23518908
    19. results demonstrate that ASAH1 is a novel coregulatory protein that represses SF-1 function by directly binding to the receptor on SF-1 target gene promoters and identify a key role for nuclear lipid metabolism in regulating gene transcription PMID: 22927646
    20. Acid ceramidase, through sphingosine 1-phosphate, promotes an invasive phenotype in prostate cancer by causing overexpression and secretion of cathepsin B through activation and nuclear expression of Ets1. PMID: 22322590
    21. ASAH1 inhibition synergistically sensitizes lung cancer cells resistant to the antiproliferative effect of choline kinase alpha inhibitors. PMID: 22515519
    22. Our results reveal a wide phenotypic spectrum associated with ASAH1 mutations in spinal muscular atrophy associated with progressive myoclonal epilepsy. PMID: 22703880
    23. A report of two siblings with Farber disease who carry a novel V97G ASAH1 mutation with the parents and a sister being asymptomatic carriers. PMID: 21893389
    24. ASAH1 as a pivotal regulator of steroidogenic capacity in the human adrenal cortex. PMID: 22261821
    25. down-regulation of aCDase alone or in combination with DTIC may represent a useful tool in the treatment of metastatic melanoma. PMID: 21700700
    26. This study supports that the ASAH1 gene may be a potential candidate gene for schizophrenia in Han Chinese subjects. PMID: 21375364
    27. the level of AC did not correlate with the sensitivity of HNSCC cells to Fas-induced apoptosis. PMID: 21504271
    28. Identification of cystatin SA as a novel inhibitor of acid ceramidase. PMID: 21846728
    29. a mechanism through which genistein promotes sphingolipid metabolism and support a role for ASAH1 in breast cancer cell growth. PMID: 21493710
    30. cells deficient in acid ceramidase (aCDase) also exhibited defects in CCL5 induction, whereas cells deficient in sphingosine kinase-1 and -2 exhibited higher levels of CCL5. PMID: 21335555
    31. Acid ceramidase (aCDase) is responsible for ceramide degradation within mammalian cells. An inherited deficiency of aCDase activity results in Farber disease. PMID: 20871013
    32. Both acidic ceramidase (aCDase) and neutral ceramidase (nCDase) activities declined after low- and high-UVB, but returned to normal only in low-UVB cells PMID: 20520628
    33. high ASAH1 expression correlates with grading & estrogen receptor (ER) status in breast cancer; high ASAH1 expression was associated with larger tumor size; a better prognosis of patients with higher ASAH1 expression in ER-positive subgroup was detected PMID: 19905902
    34. acid ceramidase has a central role in sphingolipid metabolism PMID: 12764132
    35. biochemistry of acid ceramidase reaction with acid sphingomyelinase PMID: 12815059
    36. p53-dependent expression of acid ceramidase and blockage of A-SMase activation play pivotal roles in protection from gamma-radiation of cells with endogenous functional p53. PMID: 15088070
    37. These results provide the first characterization of the Acid Ceremidase promoter from any species and demonstrate that Kruppel-like factor 6 (KLF6) is one transcription factor involved in the regulation of AC gene expression. PMID: 16500425
    38. upregulation of haCER1 and AC mediates the Ca2+(o)-induced growth arrest and differentiation of keratinocytes by generating sphingosine and its phosphate PMID: 17713573
    39. AC is a critical regulator of prostate cancer progression by affecting not only tumor cell proliferation and migration but also responses to drug therapy PMID: 17881906
    40. Positive selection is possibly operating on ASAH1 in the modern human population. PMID: 18245333
    41. acid ceramidase was constitutively overexpressed in leukemic LGLs and its inhibition induced apoptosis of leukemic LGLs PMID: 18477771
    42. These data identify the ACTH/cAMP signaling pathway and CREB as transcriptional regulators of the ASAH1 gene in the human adrenal cortex. PMID: 19298866

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  • 相关疾病：
    Farber lipogranulomatosis (FRBRL); Spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME)
  • 亚细胞定位：
    Lysosome. Secreted.; [Isoform 2]: Nucleus. Cytoplasm.
  • 蛋白家族：
    Acid ceramidase family
  • 组织特异性：
    Broadly expressed with higher expression in heart.
  • 数据库链接：

    HGNC: 735

    OMIM: 159950

    KEGG: hsa:427

    STRING: 9606.ENSP00000371152

    UniGene: Hs.527412