RPS27

Chr 1q21.3

ribosomal protein S27

Aliases:: MPS-1, MPS1, S27, eS27
MANE:: ENST00000651669.1

OMIM: 603702 ↗NCBI: 6232 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RPS27 · P42677

v62025-08-01

Predicted Aligned Error matrix for RPS27 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.4/ 100

Very high

84 residues

Confidence breakdown

Very high(≥ 90)88%
Confident(70–90)10%
Low(50–70)2%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Haematological malignancies cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Haematological malignancies for rare disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cytopenia - NOT Fanconi anaemia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cytopenias and congenital anaemias
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Duchenne muscular dystrophy
0.50
influenza
0.46
acute myeloid leukemia with minimal differentiation
0.46
Blackfan-Diamond anemia
0.45
cystic fibrosis
0.39
COVID-19
0.37
severe acute respiratory syndrome
0.37
neuromuscular disease caused by qualitative or quantitative defects of dystrophin
0.32
Becker muscular dystrophy
0.29
neurodegenerative disease
0.26

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Small ribosomal subunit protein eS27

Component of the small ribosomal subunit (PubMed:23636399, PubMed:8706699). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). Required for proper rRNA processing and maturation of 18S rRNAs (PubMed:25424902). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797)