概述

描述

  • 性质
    Recombinant
  • 来源
    Wheat germ
  • 氨基酸序列
    • Accession
    • 种属
      Human
    • 序列
      LRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVI MERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYS
    • 分子量
      37 kDa including tags
    • 氨基酸
      321 to 420

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技术指标

Our Abpromise guarantee covers the use of ab152335 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • 应用

    ELISA

    Western blot

    SDS-PAGE

  • 形式
    Liquid
  • 补充说明
    Protein concentration is above or equal to 0.05 µg/µl.
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

常规信息

  • 别名
    • CBF5
    • CBF5 homolog
    • Cbf5p homolog
    • DKC
    • DKC 1
    • Dkc1
    • DKC1_HUMAN
    • DKCX
    • Dyskeratosis congenita 1
    • Dyskeratosis congenita 1 dyskerin
    • Dyskerin
    • H/ACA ribonucleoprotein complex subunit 4
    • NAP 57
    • NAP57
    • NOLA 4
    • NOLA4
    • Nopp140 associated protein of 57 kDa
    • Nopp140-associated protein of 57 kDa
    • Nucleolar protein family A member 4
    • Nucleolar protein NAP57
    • snoRNP protein DKC1
    • XAP 101
    • XAP101
    see all
  • 功能
    Isoform 1: Required for ribosome biogenesis and telomere maintenance. Probable catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.
    Isoform 3: Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression (when overexpressed in HeLa cells).
  • 组织特异性
    Ubiquitously expressed.
  • 疾病相关
    Defects in DKC1 are a cause of dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]. XDKC is a rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy.
    Defects in DKC1 are the cause of Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]. HHS is a multisystem disorder affecting males and is characterized by aplastic anemia, immunodeficiency, microcephaly, cerebellar hypoplasia, and growth retardation.
  • 序列相似性
    Belongs to the pseudouridine synthase TruB family.
    Contains 1 PUA domain.
  • 细胞定位
    Cytoplasm and Nucleus > nucleolus. Nucleus > Cajal body. Also localized to Cajal bodies.
  • Information by UniProt

图片

  • 12.5% SDS-PAGE analysis of ab152335 stained with Coomassie Blue.

文献

ab152335 has not yet been referenced specifically in any publications.

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