Disease relevance of CPNE1

• DESIGN AND METHODS: Historical features were reviewed and neuro-ophthalmologic examinations were performed on a sample of COPN patients (n = 9) and Cuban patients with other forms of optic neuropathy (n = 2) [1].
• OBJECTIVE: To investigate the potential role of mitochondrial DNA (mtDNA) mutations in the recent outbreak in Cuba of optic neuropathy and peripheral neuropathy (COPN) [1].

High impact information on CPNE1

• Identification of targets for calcium signaling through the copine family of proteins. Characterization of a coiled-coil copine-binding motif [2].
• A consensus sequence for the coiled-coil copine-binding site was derived and found to have predictive value for identifying new copine targets [2].
• However, the copine amino acid sequences lack the traditional kinase catalytic domain [3].
• Characterization of copine VII, a new member of the copine family, and its exclusion as a candidate in sporadic breast cancers with loss of heterozygosity at 16q24.3 [4].
• The copine dominant-negative construct also inhibited the TNF-alpha-dependent degradation of IkappaB, a regulator of NF-kappaB [5].

Biological context of CPNE1

• Detailed sequence analysis revealed that the Cuban patients could be divided into 7 distinct mtDNA haplotypes and that the 2 COPN patients with mtDNA mutations in the cytochrome c oxidase subunit III gene were not members of the same maternal lineage [1].

Other interactions of CPNE1

• The role of copines in regulating signalling from the TNF-alpha (tumour necrosis factor-alpha) receptor was probed by the expression of a copine dominant-negative construct in HEK293 (human embryonic kidney 293) cells [5].
• One of the identified targets of copine I is the NEDD8-conjugating enzyme UBC12 (ubiquitin C12), that promotes the degradation of IkappaB through the ubiquitin ligase enzyme complex SCF(betaTrCP) [5].

References