概述

描述

  • 性质
    Synthetic
  • 氨基酸序列
    • 种属
      Human
    • 序列
      EVPAAGRVPA-C
    • 氨基酸
      2 to 11

技术指标

Our Abpromise guarantee covers the use of ab23088 in the following tested applications.

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

  • 应用

    Blocking

  • 形式
    Liquid
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

    Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.

常规信息

  • 别名
    • CCFDN
    • CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
    • CTD of POLR2A, phosphatase of, subunit 1
    • CTDP1
    • CTDP1_HUMAN
    • EC 3.1.3.16
    • RNA polymerase II subunit A C terminal domain phosphatase
    • RNA polymerase II subunit A C-terminal domain phosphatase
    • Serine phosphatase FCP1a
    • TFIIF associating CTD phosphatase
    • TFIIF-associating CTD phosphatase
    • TFIIF-associating CTD phosphatase 1
    • Transcription factor IIF-associating CTD phosphatase 1
    see all
  • 功能
    Processively dephosphorylates 'Ser-2' and 'Ser-5' of the heptad repeats YSPTSPS in the C-terminal domain of the largest RNA polymerase II subunit. This promotes the activity of RNA polymerase II.
  • 组织特异性
    Ubiquitously expressed. Isoform 3 is expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and placenta.
  • 疾病相关
    Defects in CTDP1 are a cause of congenital cataracts facial dysmorphism and neuropathy syndrome (CCFDN) [MIM:604168]. CCFDN is an autosomal recessive developmental disorder that occurs in an endogamous group of Vlax Roma (Gypsies). The syndrome is characterized by a complex clinical phenotype with seemingly unrelated features involving multiple organs and systems. Developmental abnormalities include congenital cataracts and microcorneae, hypomyelination of the peripheral nervous system, impaired physical growth, delayed early motor and intellectual development, facial dysmorphism and hypogonadism. Central nervous system involvement, with cerebral and spinal cord atrophy, may be the result of disrupted development with superimposed degenerative changes. Affected individuals are prone to severe rhabdomyolysis after viral infections and to serious complications related to general anesthesia (such as pulmonary edema and epileptic seizures).
  • 序列相似性
    Contains 1 BRCT domain.
    Contains 1 FCP1 homology domain.
  • 翻译后修饰
    Phosphorylated. In the presence of TFIIF, the phosphorylated form has an increased CTD phosphatase activity. The phosphorylation is required for the physical interaction with GTF2F1.
  • 细胞定位
    Nucleus.
  • Information by UniProt

文献

ab23088 has not yet been referenced specifically in any publications.

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