InterPro domain: IPR006353
General Information
- Identifier IPR006353
- Description HAD-superfamily hydrolase, subfamily IIA, CECR5
- Number of genes 143
- Gene duplication stats Loading...
Abstract
This family is a member of the Class IIA subfamily of the haloacid dehalogenase superfamily of aspartate-nucleophile hydrolases. Sequences in this family are all from eukaryotes. One sequence is called "Cat Eye Syndrome critical region protein 5" (CECR5) [ 1 ]. This gene has been cloned from a pericentromere region of human chromosome 22 believed to be the location of the gene or genes responsible for Cat Eye Syndrome. This is one of a number of candidate genes. The Schizosaccharomyces pombe (Fission yeast) sequence is annotated as "phosphatidyl synthase," however this is due entirely to a C-terminal region of the protein (outside the region of similarity covered by this entry) which is highly homologous to a family of CDP-alcohol phosphatidyltransferases. The physical connection of the phosphatidyl synthase and the HAD-superfamily hydrolase domain in S. pombe may, however, be an important clue to the substrate for the hydrolases in this group.
1. Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere. Genome Res. 11, 1053-70