Disease relevance of UBE2H

• To identify parts of the enzyme that are capable of binding H2A, we expressed several deletion mutants of UbcH2 in E. coli and tested the ability of the affinity purified mutant proteins to ubiquitinate H2A in the presence of bacterial expressed E1 and ubiquitin [1].
• Additionally, the accumulation of high levels of certain Ub-conjugating enzymes (UbcH1, UbcH2, and UbcH5), was specific to breast cancer, as no change in abundance was detected in primary colon cancer tissue extracts [2].

Psychiatry related information on UBE2H

• Given its physical location and function, we examined UBE2H as a candidate for involvement in autistic disorder [3].

High impact information on UBE2H

• The fact that both UBC8 and EFP are common components in the ubiquitin and ISG15 conjugation pathways suggests a mechanism whereby a limited set of enzymes accomplishes diverse post-translational modifications of their substrates in response to changes in environmental stimulations [4].
• The UbcH2 gene is located on chromosome 7 and shows a complex expression pattern with at least five different mRNAs [5].
• We screened the seven exons of the UBE2H gene in autistic patients using single-strand conformation analysis [3].
• The rat UBE2H and human UBE2H deduced amino acid sequences are identical [3].
• We confirmed by reverse transcription-polymerase chain reaction that the UBE2H gene was expressed in the rat and the human central nervous system [3].

Biological context of UBE2H

• Mutation screening and association study of the UBE2H gene on chromosome 7q32 in autistic disorder [3].

Anatomical context of UBE2H

• We find that UbcH2 is constitutively expressed by human skeletal and cardiac muscles, murine limb muscle, and cultured myotubes [6].
• TNF-alpha increases ubiquitin-conjugating activity in skeletal muscle by up-regulating UbcH2/E220k [6].

References