NCBP3

Chr 17

nuclear cap binding subunit 3

Also known as: C17orf85, ELG, HSA277841

NCBI Gene: 55421 ENSG00000074356 UniProt: Q53F19

NCBP3 encodes a protein that binds to the 7-methylguanosine cap of mRNAs and forms an alternative cap-binding complex with NCBP1, specifically facilitating mRNA export from the nucleus to the cytoplasm and playing a critical role in antiviral defense responses. Mutations in NCBP3 cause autosomal recessive intellectual developmental disorder with severe speech delay and behavioral abnormalities. This gene shows high constraint against loss-of-function variants, indicating that complete loss of protein function is likely not tolerated.

ResearchSummary from RefSeq, UniProt

Enables RNA 7-methylguanosine cap binding activity and mRNA binding activity. Involved in defense response to virus; mRNA export from nucleus; and snRNA export from nucleus. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

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)

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P/LP submissions

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P/LP missense

0.22

LOEUF· LoF intol.

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Mechanism

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