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

More general terms

• nuclear protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2074
• OMIM: https://mirror.omim.org/entry/609413
• OMIM: https://mirror.omim.org/entry/616946
• UniProt: http://www.uniprot.org/uniprot/P0DP91.html