RBMY1A1

Chr Y

RNA binding motif protein Y-linked family 1 member A1

Also known as: RBM, RBM1, RBM2, RBMY, RBMY1C, YRRM1, YRRM2

NCBI Gene: 5940 ENSG00000234414 UniProt: P0DJD3

The protein is an RNA-binding protein that regulates pre-mRNA splicing and is required for sperm development. Mutations cause male infertility due to azoospermia or severe oligospermia, with inheritance following a Y-linked pattern since the gene is located on the Y chromosome. The gene shows relatively low constraint to loss-of-function variants (pLI 0.29, LOEUF 1.89), consistent with its specialized role in male reproductive function.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. This protein is thought to function as a splicing regulator during spermatogenesis. Multiple closely related paralogs of this gene are found in a gene cluster in the AZFb azoospermia factor region of chromosome Y. Most of these related copies are thought to be pseudogenes, though several likely encode functional proteins. [provided by RefSeq, Mar 2016]

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

1.89

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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