1 Child Features
| DB identifier | Type | Name |
|---|---|---|
| IPR029621 | Family | Cat eye syndrome critical region protein 5 |
| Type: | Family | Name: | HAD-superfamily hydrolase, subfamily IIA, CECR5 |
| Description: | 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) []. 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. | Short Name: | HAD-SF_hydro_IIA_CECR5 |
| DB identifier | Type | Name |
|---|---|---|
| IPR029621 | Family | Cat eye syndrome critical region protein 5 |
