Usher Syndrome 1C Binding Protein 1 (USHBP1)

USHBP1, called MCC2. The deduced 703-amino acid protein contains a PDZ domain-binding motif and shares homology with the coiled-coil regions of MCC1. Northern blot analysis detected 2.4- and 3.5-kb transcripts with highest expression in heart and moderate to low expression in skeletal muscle, kidney, liver, small intestine, placenta, and lung.

The 3.5-kb transcript represented a splice variant, resulting in premature termination and a deduced 68-amino acid peptide. Yeast 2-hybrid analysis confirmed the interaction between USHBP1 and the PDZ domain of USH1C, and RT-PCR analysis showed low to no expression of USHBP1 in 32 cancer cell lines tested.