| Primary Identifier | IPR053858 | Type | Domain |
| Short Name | Arb2_dom |
| description | This entry represents Arb2 domain that was first described in Argonaute-binding protein 2 from S. pombe, from which it gets the name. Arb2 protein is the orthologue of FAM172 from animals, including FAM12A from human, a protein associated with CHARGE syndrome, a severe multi-organ developmental disorder mainly affecting derivatives of cranial and cardiac neural crest cells (NCCs). A general pathological mechanism for CHARGE syndrome has been suggested to be a spliceosomopathy, the perturbation of chromatin-mediated alternative splicing [, ]. FAM172A and its homologues contain a large ARB2 domain split into two halves by a classical bipartite NLS that helps to stabilize the chromatin-spliceosome interface as part of a complex that includes CHD7 and AGO2 []. It has been suggested that FAM172A can connect the alternative splicing machinery to specific transcribed chromatin regions [, ]. Arb2 from S.pombe is a member of the argonaute siRNA chaperone (ARC) complex which is required for histone H3K9 methylation, heterochromatin assembly and siRNA generation []. This domain has clear homology to ��/��-hydrolases but it lacks the catalytic triad of these enzymes. |
