ERAL1

Chr 17q11.2

Era like 12S mitochondrial rRNA chaperone 1

Aliases:: HERA-B
MANE:: ENST00000254928.10

OMIM: 607435 ↗NCBI: 26284 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

ERAL1 · O75616

v62025-08-01

Predicted Aligned Error matrix for ERAL1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.9/ 100

Confident

437 residues

Confidence breakdown

Very high(≥ 90)59%
Confident(70–90)14%
Low(50–70)2%
Very low(< 50)24%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Differences in sex development
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal
Primary ovarian insufficiency
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegenerative disease
0.51
Perrault syndrome
0.46
Perrault syndrome 6
0.43
Perrault syndrome 2
0.37
Perrault syndrome 1
0.37
Hearing impairment
0.12
neoplasm
0.10
breast carcinoma
0.10
breast cancer
0.08
breast neoplasm
0.06

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

Protein function (UniProt)

GTPase Era, mitochondrial

Probable GTPase that plays a role in the mitochondrial ribosomal small subunit assembly. Specifically binds the 12S mitochondrial rRNA (12S mt-rRNA) to a 33 nucleotide section delineating the 3' terminal stem-loop region. May act as a chaperone that protects the 12S mt-rRNA on the 28S mitoribosomal subunit during ribosomal small subunit assembly