ELKS/RAB6 Interacting/CAST Family, Member 1 (ERC1)

ERC1 is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13). Multiple transcript variants encoding different isoforms have been found for this gene.

The deduced 948-amino acid protein contains 9 alpha-helical coiled-coil domains including periodic heptad repeats that predict dimer formation.Northern blot analysis detected ubiquitous expression of a 9.0-kb transcript, with highest expression in heart, placenta, pancreas, thyroid, and testis. Transcripts of 7.0, 1.5, and 1.0 kb were also found in skeletal muscle, and other minor transcripts were found in several tissues.