RPL27

Chr 17q21.31

ribosomal protein L27

Aliases:: L27, eL27
MANE:: ENST00000253788.12

OMIM: 607526 ↗NCBI: 6155 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RPL27 · P61353

v62025-08-01

Predicted Aligned Error matrix for RPL27 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

94.3/ 100

Very high

136 residues

Confidence breakdown

Very high(≥ 90)88%
Confident(70–90)11%
Low(50–70)1%
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)

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

Disease associations (Open Targets)

Blackfan-Diamond anemia
0.66
Duchenne muscular dystrophy
0.50
Diamond-Blackfan anemia
0.47
influenza
0.46
cystic fibrosis
0.39
acute myeloid leukemia with minimal differentiation
0.37
neuromuscular disease caused by qualitative or quantitative defects of dystrophin
0.32
Becker muscular dystrophy
0.29
non-Hodgkin lymphoma
0.10
aniridia
0.10

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

Protein function (UniProt)

Large ribosomal subunit protein eL27

Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688, PubMed:32669547). Required for proper rRNA processing and maturation of 28S and 5.8S rRNAs (PubMed:25424902)