UFSP2
Description
The UFSP2 (UFM1 specific peptidase 2) is a protein-coding gene located on chromosome 4.
UFSP2 is a highly conserved cysteine protease that cleaves two C-terminal residues from ubiquitin-fold modifier 1 (UFM1), a ubiquitin-like post-translational modifier protein. This activation exposes a C-terminal glycine residue in UFM1, enabling its interaction with other proteins and transfer to target proteins. An allelic variant of UFSP2 has been associated with Beukes hip dysplasia. Multiple transcript variants are produced through alternative splicing.
UFSP2 is a thiol-dependent isopeptidase that specifically cleaves UFM1, a ubiquitin-like modifier protein, from target proteins. It recognizes and hydrolyzes the peptide bond at the C-terminal Gly of UFM1, but does not hydrolyze SUMO1 or ISG15 ubiquitin-like proteins. UFSP2 plays a role in regulating cell proliferation and differentiation through deUFMylation of TRIP4, which in turn regulates intracellular nuclear receptors transactivation.
UFSP2 is also known as BHD, C4orf20, DEE106, SEMDDR.
Associated Diseases
- Hip dysplasia, Beukes type
- Spondyloepimetaphyseal dysplasia, DI Rocco type
- Developmental and epileptic encephalopathy 106
