SH3 Domain And Tetratricopeptide Repeats Protein 1 (SH3TC1)

SH3TC1 (SH3 domain and tetratricopeptide repeats-containing protein 1) is a 1,336 amino acid protein containing one src-homology 3 (SH3) domain and nine tetratricopeptide (TPR) repeats. SH3 domains bind to proline-rich peptides, and tertiary interactions involving loops on the SH3 domain lead to increased binding affinity and specificity. TPR domains play an important role in protein-protein interactions. The gene encoding SH3TC1 maps to human chromosome 4, which houses nearly 6% of the human genome and has the largest gene deserts (regions of the genome with no protein encoding genes) of all of the human chromosomes. Defects in some of the genes located on chromosome 4 are associated with Huntington’s disease, Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.