UFSP2 gene

UFM1 specific peptidase 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a highly conserved cysteine protease. The protein cleaves two C-terminal residues from ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein. Activation of ubiquitin-fold modifier 1 by the encoded protein exposes a C-terminal glycine residue that allows interaction with other proteins and transfer to its target protein. An allelic variant of this gene has been associated with Beukes hip dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

From UniProt:

Thiol protease which recognizes and hydrolyzes the peptide bond at the C-terminal Gly of UFM1, a ubiquitin-like modifier protein bound to a number of target proteins. Does not hydrolyze SUMO1 or ISG15 ubiquitin-like proteins. Through TRIP4 deufmylation may regulate intracellular nuclear receptors transactivation and thereby regulate cell proliferation and differentiation.

From NCBI Gene:

  • Hip dysplasia, beukes type

From UniProt:

Beukes familial hip dysplasia (BFHD): A severe progressive degenerative osteoarthritis of the hip joint with underlying dysplasia confined to that region. Affected individuals are of normal stature and have no associated health problems. [MIM:142669]

Cytogenetic Location: 4q35.1, which is the long (q) arm of chromosome 4 at position 35.1

Molecular Location: base pairs 185,399,540 to 185,425,985 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4q35.1, which is the long (q) arm of chromosome 4 at position 35.1
  • BHD
  • C4orf20