JOSD1

Chr 22

Josephin domain containing 1

NCBI Gene: 9929 ENSG00000100221 UniProt: Q15040

The JOSD1 protein functions as a deubiquitinating enzyme that cleaves ubiquitin chains and regulates endocytosis and membrane dynamics. Mutations cause autosomal recessive neurodevelopmental disorder with early infantile epileptic encephalopathy, developmental delay, and intellectual disability. This gene is not highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

Deubiquitinates monoubiquitinated probes (in vitro). When ubiquitinated, cleaves 'Lys-63'-linked and 'Lys-48'-linked poly-ubiquitin chains (in vitro), hence may act as a deubiquitinating enzyme. May increase macropinocytosis and suppress clathrin- and caveolae-mediated endocytosis. May enhance membrane dynamics and cell motility independently of its catalytic activity

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.83

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)