RPS4Y1

Chr Y

ribosomal protein S4 Y-linked 1

Also known as: RPS4Y, S4

NCBI Gene: 6192 ENSG00000129824 UniProt: P22090 OMIM: 470000

This gene encodes ribosomal protein S4, a component of the 40S ribosomal subunit that catalyzes protein synthesis in the cytoplasm. Located on the Y chromosome, RPS4Y1 has a functionally equivalent X-linked counterpart (RPS4X), and haploinsufficiency of ribosomal protein S4 genes has been suggested to contribute to Turner syndrome, though this remains controversial. The gene shows moderate constraint against loss-of-function variants (pLI 0.63, LOEUF 0.94).

OMIM ResearchSummary from RefSeq

Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, X-linked (RPS4X). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [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)

—

P/LP submissions

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P/LP missense

0.94

LOEUF

LOF

Mechanism· predicted