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  4. Recombinant Human Patatin-like phospholipase domain-containing protein 1 (PNPLA1)

Recombinant Human Patatin-like phospholipase domain-containing protein 1 (PNPLA1)

  • 中文名称：
    人PNPLA1重组蛋白
  • 货号：
    CSB-YP843295HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人PNPLA1重组蛋白
  • 货号：
    CSB-EP843295HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人PNPLA1重组蛋白
  • 货号：
    CSB-EP843295HU-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：
  • 中文名称：
    人PNPLA1重组蛋白
  • 货号：
    CSB-BP843295HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人PNPLA1重组蛋白
  • 货号：
    CSB-MP843295HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    PNPLA1
  • Uniprot No.：
  • 别名：
    PNPLA1; Patatin-like phospholipase domain-containing protein 1; EC 3.1.1.-
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-532
  • 氨基酸序列
    MEEQVFKGDP DTPHSISFSG SGFLSFYQAG AVDALRDLAP RMLETAHRFA GTSAGAVIAA LAICGIEMDE YLRVLNVGVA EVKKSFLGPL SPSCKMVQMM RQFLYRVLPE DSYKVTTGKL HVSLTRLTDG ENVVVSEFTS KEELIEALYC SCFVPVYCGL IPPTYRGVRY IDGGFTGMQP CAFWTDAITI STFSGQQDIC PRDCPAIFHD FRMFNCSFQF SLENIARMTH ALFPPDLVIL HDYYYRGYED AVLYLRRLNA VYLNSSSKRV IFPRVEVYCQ IELALGNECP ERSQPSLRAR QASLEGATQP HKEWVPKGDG RGSHGPPVSQ PVQTLEFTCE SPVSAPVSPL EQPPAQPLAS STPLSLSGMP PVSFPAVHKP PSSTPGSSLP TPPPGLSPLS PQQQVQPSGS PARSLHSQAP TSPRPSLGPS TVGAPQTLPR SSLSAFPAQP PVEELGQEQP QAVALLVSSK PKSAVPLVHV KETVSKPYVT ESPAEDSNWV NKVFKKNKQK TSGTRKGFPR HSGSKKPSSK VQ
  • 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：
    Omega-hydroxyceramide transacylase involved in the synthesis of omega-O-acylceramides (esterified omega-hydroxyacyl-sphingosine; EOS), which are extremely hydrophobic lipids involved in skin barrier formation. Catalyzes the last step of the synthesis of omega-O-acylceramides by transferring linoleic acid from triglycerides to an omega-hydroxyceramide. Omega-O-acylceramides, are required for the biogenesis of lipid lamellae in the stratum corneum and the formation of the cornified lipid envelope which are essential for the epidermis barrier function. These lipids also play a role in keratinocyte differentiation. May also act on omega-hydroxylated ultra-long chain fatty acids (omega-OH ULCFA) and acylglucosylceramides (GlcEOS).
  • 基因功能参考文献：
    1. We report two novel PNPLA1 mutations including one novel missense mutation c.335C > A (p.Ser112Tyr) and one novel deletion mutation c.733_735delTAC (p.Tyr245del) in Turkish autosomal recessive congenital ichthyosis patients from unrelated consanguineous families. PMID: 29624231
    2. PNPLA1 catalyses the omega-O-esterification with linoleic acid to form acylceramides. PMID: 28248300
    3. PNPLA1 is directly involved in acylceramide synthesis as a transacylase. PMID: 28248318
    4. The PNPLA1 mutations reportedhere show PNPLA1 to be an important, if relatively rare, cause of ARCI. PMID: 28403545
    5. The results show potential phenotypic variation in a small percentage of patients with PNPLA1 mutations. The variability of the clinical manifestations and the lack of typical clinical features are specific for patients with PNPLA1 mutations. PMID: 28093717
    6. Data support that PNPLA1/Pnpla1 is a key player in the formation of omega-O-acylceramide, a crucial process for the epidermal permeability barrier function. PMID: 28369476
    7. analysis of distinct and previously unreported mutations in the PNPLA1 gene in nine extended consanguineous families with autosomal recessive congenital ichthyosis PMID: 27884779
    8. an essential role of PNPLA1 in the synthesis of omega-O-AcylCers in human and murine skin. PMID: 27751867
    9. the variant identified will expand the spectrum of mutations in the PNPLA1 gene, provides more evidence for lack of genotype-phenotype correlation and clinical variability in PNPLA1 and underscores its role in causing autosomal recessive congenital ichthyosis PMID: 26691440
    10. Letter: novel missense PNPLA1 variant causing autosomal recessive congenital ichthyosis in a Pakistani family. PMID: 26778108
    11. Results show that PNPLA1 missense mutations observed in this European family affect the patanin-like domain PMID: 24344921
    12. These results identified hPNPLA1 and a mutant in HeLa cells. PMID: 24057234
    13. One missense and one nonsense mutation in the catalytic domain of human PNPLA1 were found in six individuals with autosomal recessive congenital ichthyoses from two families. PMID: 22246504
    14. PNPLA1 exhibited a modest effect on obesity PMID: 19390624
    15. Observational study of gene-disease association. (HuGE Navigator) PMID: 19390624
    16. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 18414634

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  • 相关疾病：
    Ichthyosis, congenital, autosomal recessive 10 (ARCI10)
  • 亚细胞定位：
    Cytoplasm.
  • 组织特异性：
    Expressed in the digestive system. Expressed in the epidermis of skin keratinocytes. Strongly expressed in the granular layer. Expressed in the upper epidermis and eccrine sweat glands of the dermis and in the region of keratin filament bundles, which is
  • 数据库链接：

    HGNC: 21246

    OMIM: 612121

    KEGG: hsa:285848

    STRING: 9606.ENSP00000378072

    UniGene: Hs.407002