RC3H1

Chr 1AR

ring finger and CCCH-type domains 1

Also known as: FHL6, IMDSHY, RNF198, ROQUIN

NCBI Gene: 149041 ENSG00000135870 UniProt: Q5TC82 OMIM: 609424

RC3H1 encodes a post-transcriptional repressor that binds to specific RNA motifs in mRNA 3'-UTRs to promote mRNA degradation, particularly targeting inflammatory genes like TNF and ICOS, and also functions as a ubiquitin E3 ligase. Autosomal recessive mutations cause immune dysregulation and systemic hyperinflammation syndrome. The gene is highly constrained against loss-of-function variants (pLI 0.99, LOEUF 0.29), indicating that complete loss of RC3H1 function is poorly tolerated.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein containing RING-type and C3H1-type zinc finger motifs. The encoded protein recognizes and binds to a constitutive decay element (CDE) in the 3' UTR of mRNAs, leading to mRNA deadenylation and degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Immune dysregulation and systemic hyperinflammation syndromeMIM #618998

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

0.29

LOEUF· LoF intol.

LOF

Mechanism· predicted