RSL1D1

Chr 16

ribosomal L1 domain containing 1

Also known as: CSIG, Cic1, L12, PBK1, UTP30

NCBI Gene: 26156 ENSG00000171490 UniProt: O76021

RSL1D1 encodes a protein that binds mRNA and regulates cellular senescence by inhibiting PTEN translation, while also functioning as a pro-apoptotic regulator during DNA damage responses. Mutations cause autosomal recessive developmental delay, seizures, and brain malformations including microcephaly and cortical dysplasia. The gene shows no constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are unaffected.

ResearchSummary from RefSeq, UniProt

Enables mRNA 3'-UTR binding activity and mRNA 5'-UTR binding activity. Involved in regulation of apoptotic process and regulation of cellular senescence. Acts upstream of or within regulation of protein localization. Located in nucleolus. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.00

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429