Overview

Description

  • NatureSynthetic
  • Amino Acid Sequence
    • SpeciesHuman
    • SequenceEVPAAGRVPA-C
    • Amino acids2 to 11

Specifications

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.

  • Applications

    Blocking

  • FormLiquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

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

General Info

  • Alternative names
    • 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
  • FunctionProcessively 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.
  • Tissue specificityUbiquitously expressed. Isoform 3 is expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and placenta.
  • Involvement in diseaseDefects 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).
  • Sequence similaritiesContains 1 BRCT domain.
    Contains 1 FCP1 homology domain.
  • Post-translational
    modifications
    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.
  • Cellular localizationNucleus.
  • Information by UniProt

References for Human FCP1 peptide (ab23088)

ab23088 has not yet been referenced specifically in any publications.

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