UBE3A (NM_130839) Human Recombinant Protein

• Background:

  This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]

• Synonyms:

  ANCR; AS; E6-AP; EPVE6AP; HPVE6A

• Gene ID:

  7337

• UniProt:

  Q05086

• Accession Number mRNA:

  NM_130839

• Chromosomal Location:

  15q11.2

• Expression System:

  HEK293T

• Tag:

  C-Myc/DDK

• Related Pathways:

  Ubiquitin mediated proteolysis

• Field of Research:

  Ubiquitin mediated proteolysis

• Concentration:

  >50 ug/mL as determined by microplate BCA method

• Purity:

  > 80% as determined by SDS-PAGE and Coomassie blue staining

• Form:

  Liquid

• Buffer:

  25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

• Function:

  Druggable Genome

• Molecular Weight:

  99.9 kDa

• Storage Conditions:

  Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

• Symbol:

  UBE3A

• Species:

  Human

• Protein ID:

  NP_570854

• Overview:

  Purified recombinant protein of Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 3

• Gene ID URL:

  https://www.ncbi.nlm.nih.gov/gene/7337

• Uniprot URL:

  https://www.uniprot.org/uniprot/Q05086

• Accession Number mRNA URL:

  https://www.ncbi.nlm.nih.gov/nuccore/NM_130839

• Protein ID Link:

  https://www.ncbi.nlm.nih.gov/nuccore/NP_570854