UFSP2

UFSP2
Identifiers
Aliases	UFSP2, C4orf20, BHD, UFM1-specific peptidase 2, UFM1 specific peptidase 2, SEMDDR
External IDs	OMIM: 611482; MGI: 1913679; GeneCards: UFSP2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3OQC
Gene location (Human) Chr. Chromosome 4 (human) Band 4q35.1 Start 185,399,537 bp End 185,425,979 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8|8 B1.1 Start 46,428,565 bp End 46,449,995 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon muscle of thigh triceps brachii muscle left ovary ventricular zone gastrocnemius muscle right ovary Skeletal muscle tissue of rectus abdominis Skeletal muscle tissue of biceps brachii Descending thoracic aorta Top expressed in seminal vesicula molar facial motor nucleus medial vestibular nucleus deep cerebellar nuclei pineal gland calvaria right kidney pontine nuclei islet of Langerhans More reference expression data BioGPS n/a
Gene ontology Molecular function peptidase activity hydrolase activity cysteine-type peptidase activity protein binding thiolester hydrolase activity UFM1 hydrolase activity Cellular component nucleus cytoplasm endoplasmic reticulum Biological process regulation of intracellular estrogen receptor signaling pathway proteolysis Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 55325 192169 Ensembl ENSG00000109775 ENSMUSG00000031634 UniProt Q9NUQ7 Q99K23 RefSeq (mRNA) NM_018359 NM_138668 RefSeq (protein) NP_060829 NP_619609 Location (UCSC) Chr 4: 185.4 – 185.43 Mb Chr 8: 46.43 – 46.45 Mb PubMed search
Wikidata
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UFM1 specific peptidase 2 is a protein that in humans is encoded by the UFSP2 gene.

Function

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].

References

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.