NCOA1

Chr 2

nuclear receptor coactivator 1

Also known as: F-SRC-1, KAT13A, RIP160, SRC1, bHLHe42, bHLHe74

NCBI Gene: 8648 ENSG00000084676 UniProt: Q15788 OMIM: 602691

NCOA1 encodes a nuclear receptor coactivator that directly binds steroid and nuclear hormone receptors to stimulate hormone-dependent gene transcription and has histone acetyltransferase activity. Mutations cause autosomal dominant intellectual disability and developmental delay, often with additional features including growth abnormalities and endocrine dysfunction. This gene is extremely intolerant to loss-of-function variants (pLI = 1.0, LOEUF = 0.25), indicating that functional copies are critical for normal development.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene acts as a transcriptional coactivator for steroid and nuclear hormone receptors. It is a member of the p160/steroid receptor coactivator (SRC) family and like other family members has histone acetyltransferase activity and contains a nuclear localization signal, as well as bHLH and PAS domains. The product of this gene binds nuclear receptors directly and stimulates the transcriptional activities in a hormone-dependent fashion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

OMIM 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

0.25

LOEUF· LoF intol.

LOF

Mechanism· predicted