Recombinant Human Acid ceramidase(ASAH1)

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Code CSB-EP619774HU
Size US$1726Purchase it in Cusabio online store
(only available for customers from the US)
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  • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.

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Product Details

Purity Greater than 90% as determined by SDS-PAGE.
Target Names ASAH1
Uniprot No. Q13510
Research Area Signal Transduction
Alternative Names 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
Species Homo sapiens (Human)
Source E.coli
Expression Region 22-395aa
Target Protein Sequence QHAPPWTEDCRKSTYPPSGPTYRGAVPWYTINLDLPPYKRWHELMLDKAPVLKVIVNSLKNMINTFVPSGKIMQVVDEKLPGLLGNFPGPFEEEMKGIAAVTDIPLGEIISFNIFYELFTICTSIVAEDKKGHLIHGRNMDFGVFLGWNINNDTWVITEQLKPLTVNLDFQRNNKTVFKASSFAGYVGMLTGFKPGLFSLTLNERFSINGGYLGILEWILGKKDVMWIGFLTRTVLENSTSYEEAKNLLTKTKILAPAYFILGGNQSGEGCVITRDRKESLDVYELDAKQGRWYVVQTNYDRWKHPFFLDDRRTPAKMCLNRTSQENISFETMYDVLSTKPVLNKLTVYTTLIDVTKGQFETYLRDCPDPCIGW
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight 58.7kDa
Protein Length Full Length of Mature Protein
Tag Info N-terminal 6xHis-SUMO-tagged
Form 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.
Buffer If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution 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°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting
and FAQs
Protein FAQs
Storage Condition Store at -20°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life 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.
Lead Time Basically, we can dispatch the products out in 3-7 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.
Notes 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.

Target Data

Function Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid.
Gene References into Functions
  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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Involvement in disease Farber lipogranulomatosis (FRBRL); Spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME)
Subcellular Location Lysosome
Protein Families Acid ceramidase family
Tissue Specificity Broadly expressed with highest expression in heart.
Database Links

HGNC: 735

OMIM: 159950

KEGG: hsa:427

STRING: 9606.ENSP00000371152

UniGene: Hs.527412

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