RBMY1E

Chr Y

RNA binding motif protein Y-linked family 1 member E

NCBI Gene: 378950 ENSG00000242389 UniProt: A6NEQ0

The protein is an RNA-binding protein that participates in pre-mRNA splicing during spermatogenesis and is required for normal sperm development. Mutations cause male infertility due to azoospermia or severe oligospermia, inherited in a Y-linked pattern since the gene is located on chromosome Y. The gene has multiple functional copies in the AZFb region and shows relatively low constraint to loss-of-function variation.

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. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008]

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