RCHY1

Chr 4

ring finger and CHY zinc finger domain containing 1

Also known as: ARNIP, CHIMP, PIRH2, PRO1996, RNF199, ZCHY, ZNF363

NCBI Gene: 25898 ENSG00000163743 UniProt: Q96PM5

The protein functions as an E3 ubiquitin ligase that mediates ubiquitination and proteasomal degradation of multiple target proteins including p53, TP73, and HDAC1, and is involved in ribosome-associated quality control pathways. Mutations in RCHY1 cause autosomal recessive intellectual disability with microcephaly, seizures, and spasticity with onset in infancy or early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.636), consistent with its autosomal recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene has ubiquitin ligase activity. It mediates E3-dependent ubiquitination and proteasomal degradation of target proteins, including tumor protein 53, histone deacetylase 1, and cyclin-dependent kinase inhibitor 1B, thus regulating their levels and cell cycle progression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2013]

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)

—

P/LP submissions

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P/LP missense

0.64

LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (1)

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