RNF128

Chr X

ring finger protein 128

Also known as: GRAIL

NCBI Gene: 79589 ENSG00000133135 UniProt: Q8TEB7

RNF128 encodes an E3 ubiquitin ligase that regulates immune responses by targeting various proteins for degradation, including components involved in T-cell activation, cytoskeletal dynamics, and innate immunity. Mutations in RNF128 cause autosomal recessive developmental and epileptic encephalopathy with microcephaly. The gene shows moderate constraint against loss-of-function variants, suggesting some tolerance to heterozygous disruption.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a type I transmembrane protein that localizes to the endocytic pathway. This protein contains a RING zinc-finger motif and has been shown to possess E3 ubiquitin ligase activity. Expression of this gene in retrovirally transduced T cell hybridoma significantly inhibits activation-induced IL2 and IL4 cytokine production. Induced expression of this gene was observed in anergic CD4(+) T cells, which suggested a role in the induction of anergic phenotype. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (2)