RCC1 And BTB Domain Containing Protein 2 (RCBTB2)

RCBTB2 encodes a member of the RCC1-related GEF family. The N-terminal half of the encoded amino acid sequence shows similarity to the regulator of chromosome condensation RCC1, which acts as a guanine nucleotide exchange factor (GEF) protein for the Ras-related GTPase Ran.

The CHC1L gene contains 14 exons and spans at least 30 kb. The 3.2-kb CHC1L mRNA was expressed in all tissues tested by Northern blot analysis. The authors identified 4 alternatively spliced CHC1L transcripts encoding 2 protein isoforms of 551 and 526 amino acids, respectively. Sequence analysis revealed that both isoforms contain 6 repeats that share homology with repeats found in CHC1 and RPGR, and a zinc finger motif.