chimeric ERCC6-PGBD3 protein; chimeric CSB-PGBD3 protein (ERCC6)

Function: - role in repair of DNA damage following UV irradiation - acts either in the absence of ERCC6 or synergistically with ERCC6 - in the absence of ERCC6, induces expression of genes characteristic of interferon-like antiviral responses - this response is almost completely suppressed in the presence of ERCC6 - in the presence of ERCC6, regulates the expression of genes involved in metabolism regulation, including IGFBP5 & IGFBP7 - in vitro binds to PGBD3-related transposable elements, called MER85s - these non-autonomous 140 bp elements are characterized by the presence of PGBD3 terminal inverted repeats & the absence of internal transposase ORF Compartment: nucleus Alternative splicing: named isoforms=3; CSB-PGBD3, CSB. PGBD3 Expression: - expressed in heart & oocytes - not expressed in granulosa cells (at protein level) Pathology: - variants of isoform CSB-PGBD3 associated with premature ovarian failure 11 * produced by alternative splicing that joins the first 5 exons of ERCC6 in frame to the entire PGBD3 coding region, which is located within ERCC6 intron 5 - the resulting chimeric protein consists of the N-terminal 465 residues of ERCC6 tethered to the entire PGBD3 sequence

Properties

SIZE: entity length = 1061 aa MW = 119 kD COMPARTMENT: cell nucleus

Database Correlations

OMIM correlations MORBIDMAP 609413 UniProt P0DP91 Pfam PF13843 Entrez Gene 2074

References

UniProt :accession P0DP91