RPL13

Chr 16q24.3

ribosomal protein L13

Aliases:: D16S444E, BBC1, L13, eL13
MANE:: ENST00000311528.10

OMIM: 113703 ↗NCBI: 6137 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RPL13 · P26373

v62025-08-01

Predicted Aligned Error matrix for RPL13 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

95.4/ 100

Very high

211 residues

Confidence breakdown

Very high(≥ 90)95%
Confident(70–90)4%
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)

Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cytopenias and congenital anaemias
Unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

spondyloepimetaphyseal dysplasia, Isidor-Toutain type
0.73
Duchenne muscular dystrophy
0.50
spondyloepimetaphyseal dysplasia
0.49
influenza
0.46
cystic fibrosis
0.39
spondyloepimetaphyseal dysplasia, Isidor type
0.37
neuromuscular disease caused by qualitative or quantitative defects of dystrophin
0.32
Becker muscular dystrophy
0.29
skin cancer
0.22
type 2 diabetes mellitus
0.21

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

Protein function (UniProt)

Large ribosomal subunit protein eL13

Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:31630789, PubMed:32669547). The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules (Probable). The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain (Probable). The nascent polypeptides leave the ribosome through a tunnel in the LSU and interact with protein factors that function in enzymatic processing, targeting, and the membrane insertion of nascent chains at the exit of the ribosomal tunnel (Probable). As part of the LSU, it is probably required for its formation and the maturation of rRNAs (PubMed:31630789). Plays a role in bone development (PubMed:31630789)