SUMO3

Chr 21

small ubiquitin like modifier 3

Also known as: SMT3A, SMT3H1, SUMO-3

NCBI Gene: 6612 ENSG00000184900 UniProt: P55854 OMIM: 602231

The protein functions as a small ubiquitin-related modifier that is covalently attached to target proteins to regulate cellular processes including nuclear transport, DNA replication and repair, mitosis, and transcriptional regulation. Mutations in SUMO3 cause neurodevelopmental disorder with microcephaly, seizures, and brain atrophy with autosomal recessive inheritance. The gene shows moderate tolerance to loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the small ubiquitin-related modifier (SUMO) family of eukaryotic proteins. The encoded protein is covalently conjugated to other proteins via a post-translation modification known as sumoylation. Sumoylation may play a role in a wide variety of cellular processes, including nuclear transport, DNA replication and repair, mitosis, transcriptional regulation, and signal transduction. Alternatively spliced transcript variants encoding distinct proteins have been described. [provided by RefSeq, Feb 2014]

OMIM 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

1.10

LOEUF

Mechanism· predicted