YTHDF1

Chr 20

YTH N6-methyladenosine RNA binding protein F1

Also known as: C20orf21, DF1

NCBI Gene: 54915 ENSG00000149658 UniProt: Q9BYJ9 OMIM: 616529

YTHDF1 encodes a protein that specifically recognizes and binds N6-methyladenosine (m6A)-containing mRNAs and regulates their stability and translation, playing essential roles in learning, memory formation, and axon guidance in the nervous system. The gene is highly constrained against loss-of-function variants (pLI 0.99, LOEUF 0.24), suggesting that mutations would likely cause severe developmental consequences, though specific disease associations have not yet been established in patients. Given its critical function in neuronal mRNA regulation and memory formation, pathogenic variants would be expected to cause neurodevelopmental disorders.

OMIM ResearchSummary from RefSeq, UniProt

Enables N6-methyladenosine-containing RNA reader activity and ribosome binding activity. Involved in mRNA destabilization; positive regulation of translational initiation; and stress granule assembly. Located in P-body and cytoplasmic stress granule. Implicated in colorectal cancer. [provided by Alliance of Genome Resources, Jul 2025]

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

290

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.24

LOEUF· LoF intol.

LOF

Mechanism· predicted