Figure 1.

NEDD4L is expressed as isoforms that contain (NEDD4L-C2(+)) or lack (NEDD4L-C2(-)) a calcium binding C2 domain. (A) Chromosome 18q21.31 where NEDD4L transcription occurs from several major alternate promoters designated p1-4 and generates NEDD4L-C2(+) and NEDD4L-C2(-) isoforms. Several additional promoters that generate NEDD4L-C2(+) and NEDD4L-C2(-) isoforms exist [11]. The location of rs4149601 is labeled on the p2 transcript. (B) The C2(+) domain transcript that arises from p1 encodes a methionine in exon 1, initiating translation upstream of the C2 domain thereby generating NEDD4L-C2(+) isoforms. The p2 transcript generates NEDD4L-C2(+) and NEDD4L-C2(-) isoforms depending on the identity of the rs4149601 variant [11]. Whereas the G variant generates NEDD4L-C2(+) and NEDD4L-C2(-), the A variant only generates NEDD4L-C2(-) [11]. Transcripts from p3 and p4 encode only NEDD4L-C2(-) utilizing an initiation codon in exon 7, downstream of the C2 domain. (C) The domain architecture of human NEDD4L-C2(+) and NEDD4L-C2(-). Each isoform contains four WW domains and a HECT (
omologous to
6 associated protein
erminus) domain.

Garrone et al. BMC Cell Biology 2009 10:26   doi:10.1186/1471-2121-10-26
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