Overview

Description

  • Nature

    Recombinant
  • Source

    Escherichia coli
  • Amino Acid Sequence
    • Accession
    • Species

      Human
    • Sequence

      ADVLSVLRQYNIQKKEIVVKGDEVIFGEFSWPKNVKTNYVVWGTGKEGQP REYYTLDSILFLLNNVHLSHPVYVRRAATENIPVVRRPDRKDLLGYLNGE ASTSASIDRSAPLEIGLQRSTQVKRAADEVLAEAKKPRIEDEECVRLDKE RLAARLEGHKEGIVQTEQIRSLSEAMSVEKIAAIKAKIMAKKRSTIKTDL DDDITALKQRSFVDAEVDVTRDIVSRERVWRTRTTILQSTGKNFSKNIFA ILQSVKARE
    • Molecular weight

      31 kDa including tags
    • Amino acids

      2 to 260
    • Tags

      His tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab152063 in the following tested applications.

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

  • Applications

    SDS-PAGE

  • Endotoxin level

    < 1.000 Eu/µg
  • Purity

    > 95 % SDS-PAGE.

  • Form

    Lyophilised
  • Additional notes

     This product was previously labelled as HRPT2

     

  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. The lyophilized protein is stable for a few weeks at room temperature. Store at -20°C long term.

    pH: 7.40
    Constituents: 99% Phosphate Buffer, 0.88% Sodium chloride

  • Reconstitution
    Always centrifuge tubes before opening. Do not mix by vortex or pipetting. Dissolve the lyophilized protein in 1X PBS. It is not recommended to reconstitute to a concentration less than 100 µg/ml.
    Reconstituted protein solution can be stored at 4-7°C for 2-7 days. For long term storage aliquot and store at < -20°C.

General Info

  • Alternative names

    • C1orf28
    • CDC 73
    • Cdc73
    • CDC73_HUMAN
    • Cell division cycle 73
    • Cell division cycle 73 Paf1/RNA polymerase II complex component homolog
    • Cell division cycle 73 Paf1/RNA polymerase II complex component like protein
    • Cell division cycle protein 73 homolog
    • FIHP
    • FLJ23316
    • HPT JT
    • HPTJT
    • HRPT 2
    • HRPT1
    • HRPT2
    • Hyperparathyroidism 2
    • Hyperparathyroidism 2 (with jaw tumor)
    • Hyperparathyroidism 2 protein
    • HYX
    • Paf1/RNA polymerase II complex component
    • Parafibromin
    see all
  • Function

    Tumor suppressor probably involved in transcriptional and post-transcriptional control pathways. May be involved in cell cycle progression through the regulation of cyclin D1/PRAD1 expression. Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of MLL1; it promotes leukemogenesis though association with MLL-rearranged oncoproteins, such as MLL-MLLT3/AF9 and MLL-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Connects PAF1C with the cleavage and polyadenylation specificity factor (CPSF) complex and the cleavage stimulation factor (CSTF) complex, and with Wnt signaling. Involved in polyadenylation of mRNA precursors.
  • Tissue specificity

    Found in adrenal and parathyroid glands, kidney and heart.
  • Involvement in disease

    Defects in CDC73 are a cause of familial isolated hyperparathyroidism (FIHP) [MIM:145000]; also known as hyperparathyroidism type 1 (HRPT1). FIHP is an autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid tumors.
    Defects in CDC73 are the cause of hyperparathyroidism-jaw tumor syndrome (HPT-JT) [MIM:145001]; also known as hyperparathyroidism type 2 (HRPT2) or familial primary hyperparathyroidism with multiple ossifying jaw fibromas. HPT-JT is an autosomal dominant, multiple neoplasia syndrome primarily characterized by hyperparathyroidism due to parathyroid tumors. Thirty percent of individuals with HPT-JT may also develop ossifying fibromas, primarily of the mandible and maxilla, which are distinc from the brown tumors associated with severe hyperparathyroidism. Kidney lesions may also occur in HPT-JT as bilateral cysts, renal hamartomas or Wilms tumors.
    Defects in CDC73 are a cause of parathyroid carcinoma (PRTC) [MIM:608266]. These cancers characteristically result in more profound clinical manifestations of hyperparathyroidism than do parathyroid adenomas, the most frequent cause of primary hyperparathyroidism. Early en bloc resection of the primary tumor is the only curative treatment.
  • Sequence similarities

    Belongs to the CDC73 family.
  • Cellular localization

    Nucleus.
  • Information by UniProt

References

ab152063 has not yet been referenced specifically in any publications.

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