TBC1 Domain Family, Member 3H (TBC1D3H)

By genomic sequence analysis, Hodzic et al. (2006) identified 8 paralogs of the TBC1D3 gene on chromosome 17, including TBC1D3H, which they called paralog C. All TBC1D3 paralogs encode a deduced 549-amino acid protein, but missense changes at 6 residues among the paralogs result in 5 different TBC1D3 isoforms. The TBC1D3H and TBC1D3G genes encode identical proteins. The TBC1D3 paralogs appeared to be differentially expressed in human tissues.USP32 is an ancient, highly conserved gene, whereas TBC1D3 is derived from a recent segmental duplication that is absent in most other mammals and shows rapid amplification and dispersal through the primate lineage. By genomic sequence analysis, Hodzic et al. (2006) identified 8 TBC1D3 paralogs, including the TBC1D3H gene, on chromosome 17q12. The paralogs are clustered in 2 groups of 4 genes, and each cluster spans approximately 400 kb.