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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ERAL1
Era like 12S mitochondrial rRNA chaperone 1
Chromosome 17 · 17q11.2
NCBI Gene: 26284Ensembl: ENSG00000132591.13HGNC: HGNC:3424UniProt: O75616
102PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionprotein bindingcytosolrRNA bindingneurodegenerative diseasePerrault syndromePerrault syndrome 6Perrault syndrome 1
✦AI Summary

ERAL1 (Era like 12S mitochondrial rRNA chaperone 1) is a mitochondrial GTPase that plays a critical role in mitochondrial ribosome assembly and cellular metabolism. The protein is localized to the mitochondrial matrix where it specifically binds to the 12S mitochondrial rRNA and associates with mitoribosomal proteins 1. ERAL1 functions as a chaperone essential for proper assembly of the small mitochondrial ribosomal subunit, and its depletion leads to reduced mitochondrial translation, redistribution of ribosomal subunits, and decreased 12S rRNA levels 1. Beyond ribosome biogenesis, ERAL1 serves dual functions in cellular defense - it maintains mitochondrial function and also acts as an antiviral signaling protein by facilitating RIG-I-like receptor signaling pathways 2. Mutations in ERAL1 cause Perrault syndrome 6, a rare autosomal recessive disorder characterized by ovarian dysgenesis and sensorineural hearing loss 3 4. Patients with ERAL1 mutations show reduced protein levels, impaired mitochondrial ribosome assembly, decreased 12S rRNA levels, and markedly reduced mitochondrial respiration 3. The gene maps to chromosome 17.2, and ERAL1 deficiency results in mitochondrial dysfunction, elevated superoxide production, growth retardation, and increased apoptosis 1.

Sources cited
1
ERAL1 localizes to mitochondrial matrix, binds 12S rRNA, and its depletion causes mitochondrial dysfunction
PMID: 20430825
2
Homozygous ERAL1 mutations cause Perrault syndrome with reduced protein levels and impaired mitochondrial function
PMID: 28449065
3
ERAL1 is associated with syndromic primary ovarian insufficiency
PMID: 34794894
4
ERAL1 functions as an antiviral signaling protein facilitating RIG-I-like receptor pathways
PMID: 33472079
5
ERAL1 maps to chromosome 17q11.2 in humans
PMID: 10945472
Disease Associationsⓘ21
neurodegenerative diseaseOpen Targets
0.51Moderate
Perrault syndromeOpen Targets
0.46Moderate
Perrault syndrome 6Open Targets
0.43Moderate
Perrault syndrome 1Open Targets
0.37Weak
Perrault syndrome 2Open Targets
0.37Weak
breast cancerOpen Targets
0.12Weak
neoplasmOpen Targets
0.12Weak
Hearing impairmentOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.11Weak
breast neoplasmOpen Targets
0.11Weak
triple-negative breast cancerOpen Targets
0.11Weak
papillary thyroid carcinomaOpen Targets
0.11Weak
posterior cortical atrophyOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
gastric cancerOpen Targets
0.11Weak
endometrial cancerOpen Targets
0.10Weak
endometriosisOpen Targets
0.09Suggestive
systemic lupus erythematosusOpen Targets
0.09Suggestive
Alzheimer diseaseOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
Perrault syndrome 6UniProt
Pathogenic Variants1
NM_005702.4(ERAL1):c.707A>T (p.Asn236Ile)Pathogenic
Perrault syndrome 6|Perrault syndrome
☆☆☆☆2017→ Residue 236
View on ClinVar ↗
Related Genes
MRPS6Protein interaction100%MRPS9Protein interaction100%MRPS16Protein interaction100%MRPS11Protein interaction100%MRPS12Protein interaction100%MRPS2Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Heart
91%
Brain
85%
Ovary
70%
Bone Marrow
60%
Lung
57%
Gene Interaction Network
Click a node to explore
ERAL1MRPS6MRPS9MRPS16MRPS11MRPS12MRPS2
PROTEIN STRUCTURE
Preparing viewer…
PDB8CSQ · 2.54 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.84LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.64 [0.49–0.84]
RankingsWhere ERAL1 stands among ~20K protein-coding genes
  • #4,675of 20,598
    Most Researched102 · top quartile
  • #4,878of 5,498
    Most Pathogenic Variants1
  • #7,283of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedERAL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetics of ovarian insufficiency and defects of folliculogenesis.
PMID: 34794894
Best Pract Res Clin Endocrinol Metab · 2022
1.00
2
ERAL1 is associated with mitochondrial ribosome and elimination of ERAL1 leads to mitochondrial dysfunction and growth retardation.
PMID: 20430825
Nucleic Acids Res · 2010
0.90
3
Mitochondrial nucleic acid binding proteins associated with diseases.
PMID: 27814609
Front Biosci (Landmark Ed) · 2017
0.80
4
Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene era.
PMID: 10945472
Genomics · 2000
0.70
5
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.
PMID: 28449065
Hum Mol Genet · 2017
0.60