NCBP3

Chr 17

nuclear cap binding subunit 3

Also known as: C17orf85, ELG, HSA277841

NCBI Gene: 55421 ENSG00000074356 UniProt: Q53F19 OMIM: 616624

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.

OMIM 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 nuclear speck. Part of nuclear cap binding activity complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 0.22

Clinical Summary— NCBP3

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

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