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  4. Recombinant Human Ceramide kinase-like protein (CERKL)

Recombinant Human Ceramide kinase-like protein (CERKL)

  • 货号：
    CSB-YP669888HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP669888HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP669888HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 货号：
    CSB-BP669888HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP669888HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    CERKL
  • Uniprot No.：
  • 别名：
    Ceramide kinase like protein; Ceramide kinase-like protein; CERKL; CERKL_HUMAN; Retinitis pigmentosa 26 (autosomal recessive); RP26
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-558
  • 氨基酸序列
    MPWRRRRNRV SALEGGREEE APPEAAAVPP ALLTSPQQTE AAAERILLRG IFEIGRDSCD VVLSERALRW RPIQPERPAG DSKYDLLCKE EFIELKDIFS VKLKRRCSVK QQRSGTLLGI TLFICLKKEQ NKLKNSTLDL INLSEDHCDI WFRQFKKILA GFPNRPKSLK ILLNPQSHKK EATQVYYEKV EPLLKLAGIK TDVTIMEYEG HALSLLKECE LQGFDGGHRK PLFAIHWSVQ RLFTGMQTLE PSVVCVGGDG SASEVAHALL LRAQKNAGME TDRILTPVRA QLPLGLIPAG STNVLAHSLH GVPHVITATL HIIMGHVQLV DVCTFSTAGK LLRFGFSAMF GFGGRTLALA EKYRWMSPNQ RRDFAVVKAL AKLKAEDCEI SFLPFNSSDD VQERRAQGSP KSDCNDQWQM IQGQFLNVSI MAIPCLCSVA PRGLAPNTRL NNGSMALIIA RNTSRPEFIK HLKRYASVKN QFNFPFVETY TVEEVKVHPR NNTGGYNPEE EEDETASENC FPWNVDGDLM EVASEVHIRL HPRLISLYGG SMEEMIPK
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    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.
  • 复溶：
    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℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 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：
    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 ：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions.
  • 基因功能参考文献：
    1. Our report indicates that the first diagnostic test for Finnish patients with sporadic or autosomal recessive retinal dystrophy should be a targeted test for founder mutations in the CERKL. PMID: 29068140
    2. The initial presenting features of CERKL-related retinopathy are distinct and unusual. Recognition of this initial presenting phenotype can facilitate earlier molecular diagnosis and genetic counseling. PMID: 24547929
    3. pVHL interacts with CERKL and ubiquitinates it for oxygen dependent proteasomal degradation. PMID: 26296657
    4. CERKL interacts with TRX2 and plays a novel key role in the regulation of the TRX2 antioxidant pathway. PMID: 24735978
    5. An unexpected multiplicity of CERKL transcriptional start sites (four in each species) plus a high variety of alternative splicing events primarily affecting the 5' half of the gene generate >20 fully validated mRNA isoforms in human and 23 in mouse. PMID: 21508105
    6. Observational study of genetic testing. (HuGE Navigator) PMID: 20801516
    7. Observational study of gene-disease association. (HuGE Navigator) PMID: 19913121
    8. Observational study of genetic testing. (HuGE Navigator) PMID: 20591486
    9. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) PMID: 20628086
    10. Observational study of gene-disease association. (HuGE Navigator) PMID: 20677014
    11. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 20379614
    12. Novel mutation in CERKL which encompassed 13 exons is identified in retinitis pigmentosa PMID: 14681825
    13. Data suggest a functional link between CERKL, a new ceramide kinase homolog, and its nucleolar localization. PMID: 15708351
    14. Identification of a nuclear localization signal that might be responsible for nucleolar retention of CERKL. PMID: 16581028
    15. c.238+1G>A is the second reported mutation of CERKL and is a prevalent founder mutation that underlies approximately 33% of autosomal recessive retinal degeneration cases in the Yemenite Jewish population. PMID: 18055789
    16. This study presents the first genotype-phenotype correlation for persons carrying p.Arg257ter mutation and provides clues for a characteristic phenotype of these mutations among persons with autosomal recessive cases. PMID: 18515597
    17. This is the third reported mutation in CERKL causing retinal degeneration but is the first report to show that a single amino acid change in CERKL, rather than a null mutation, can cause retinal disease. PMID: 18978954
    18. Retinitis pigmentosa gene ceramide kinase-like (CERKL) was analyzed to determine CERKL function and contribution to pathogenesis. PMID: 19158957
    19. The Pleckstrin Homology (PH) domain of CERK, which is required for Golgi complex localization, can substitute for the N-terminal region of CERKL and allow for wild-type CERKL localization, which is typified by nucleolar accumulation. PMID: 19501188
    20. CERKL mutations are associated with widespread retinal degeneration with prominent maculopathy. PMID: 19578027
    21. Our data indicate that compound heterozygous mutations of CERKL can cause RP. PMID: 19667359
    22. Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) PMID: 18519826
    23. Genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 18521091

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  • 相关疾病：
    Retinitis pigmentosa 26 (RP26)
  • 亚细胞定位：
    Cytoplasm. Nucleus, nucleolus. Note=Enriched in nucleoli. May shuttle between nucleus and cytoplasm. Isoform 5 is not enriched in the nucleoli.; [Isoform 2]: Cytoplasm. Nucleus, nucleolus. Golgi apparatus, trans-Golgi network. Endoplasmic reticulum.
  • 组织特异性：
    Isoform 1 and isoform 2 are expressed in adult retina, liver and pancreas as well as in fetal brain, lung and kidney. Isoform 3 is expressed in adult retina as well as in fetal lung and liver. Isoform 4 is expressed in adult retina, lung and kidney as wel
  • 数据库链接：

    HGNC: 21699

    OMIM: 608380

    KEGG: hsa:375298

    STRING: 9606.ENSP00000341159

    UniGene: Hs.732358