Vacuolar Protein Sorting 13B (VPS13B)

The COH1 gene has a complicated pattern of alternative splicing which potentially leads to the use of 4 different termination codons and to 3 additional in-frame, alternatively spliced forms.The longest COH1 transcript encodes a deduced 4,022-amino acid protein with a complex domain structure, including 10 predicted transmembrane domains, a potential vacuolar targeting motif, endoplasmic reticulum retention signal in the C terminus, and 2 peroxisomal matrix protein targeting signal-2 (PTS2) consensus sequences, one close to the N terminus and the other close to the C terminus. COH1 shows strong homology to the Saccharomyces cerevisiae VPS13 protein, suggesting a role for COH1 in vesicle-mediated sorting and transport of proteins within the cell.