ICE1

Chr 5

interactor of little elongation complex ELL subunit 1

Also known as: KIAA0947

NCBI Gene: 23379 ENSG00000164151 UniProt: Q9Y2F5

ICE1 encodes a scaffold protein that is essential for the little elongation complex (LEC), which regulates small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III. The gene is extremely intolerant to loss-of-function variants (pLI >0.99, LOEUF 0.164), suggesting mutations would likely cause severe developmental disorders, though specific associated diseases have not yet been reported in the literature. Any pathogenic variants would be expected to follow an autosomal dominant inheritance pattern given the high constraint scores.

ResearchSummary from RefSeq, UniProt

Enables protein-macromolecule adaptor activity. Involved in several processes, including positive regulation of intracellular protein transport; positive regulation of transcription by RNA polymerase III; and snRNA transcription. Located in Cajal body; euchromatin; and histone locus body. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Jul 2025]

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

—

P/LP missense

0.16

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429