SENP5

Chr 3

SUMO specific peptidase 5

NCBI Gene: 205564 ENSG00000119231 UniProt: Q96HI0

SENP5 encodes a protease that processes SUMO3 proteins to their mature form and removes SUMO2 and SUMO3 modifications from target proteins, functions that are essential for cell division and numerous biological processes. Mutations cause autosomal recessive developmental delay, seizures, and progressive microcephaly with onset in early childhood. This gene is highly constrained against loss-of-function variants, indicating that complete loss of SENP5 function is likely incompatible with normal development.

ResearchSummary from RefSeq, UniProt

The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for numerous biologic processes. SUMO-specific proteases, such as SENP5, are responsible for the initial processing of SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also have isopeptidase activity for the removal of SUMO from high molecular mass SUMO conjugates (Di Bacco et al., 2006 [PubMed 16738315]).[supplied by OMIM, Jun 2009]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.19

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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