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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ERI1
exoribonuclease 1
Chromosome 8 Β· 8p23.1
NCBI Gene: 90459Ensembl: ENSG00000104626.16HGNC: HGNC:23994UniProt: Q8IV48
46PubMed Papers
22Diseases
0Drugs
13Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
histone mRNA catabolic processprotein binding3'-5' exonuclease activitymaturation of 5.8S rRNAspondyloepimetaphyseal dysplasia, Guo-Campeau typeHoxha-Aliu syndromehypertensionneurodegenerative disease
✦AI Summary

ERI1 is a conserved 3'-to-5' exoribonuclease with critical roles in RNA metabolism and skeletal development. Its primary function involves binding to the stem-loop structure of replication-dependent histone pre-mRNAs 12 and catalyzing their degradation after DNA replication 3. ERI1 also catalyzes the final trimming step in 5.8S rRNA 3' end processing, localizing to the nucleolus and associating with ribosomes 4. The enzyme recognizes a 5'-ACCCA-3' sequence within histone mRNA stem-loops 1 and requires 2' and 3'-hydroxyl groups on the last nucleotide for efficient degradation 1. Additionally, ERI1 regulates RNA interference by degrading siRNA 3'-overhangs 5. Pathogenic ERI1 variants cause a phenotypic dichotomy in skeletal development: missense mutations result in severe spondyloepimetaphyseal dysplasia with impaired 5.8S rRNA trimming and histone mRNA degradation, while null variants produce only mild intellectual disability and digital anomalies 3. Patient-derived iPSCs with missense variants show defective chondrogenesis 3. ERI1's functions extend to viral pathogenesis, where influenza A virus co-opts the ERI1-histone mRNA processing complex to promote viral transcription 6. These findings establish ERI1 as a critical regulator of skeletal patterning and a hub protein in diverse RNA metabolic pathways.

Sources cited
1
ERI1 binds to stem-loop structures in histone pre-mRNAs containing the 5'-ACCCA-3' sequence and degrades histone mRNAs using 2' and 3'-hydroxyl groups
PMID: 14536070
2
ERI1 recognizes the 5'-ACCCA-3' sequence in histone mRNA and requires 2' and 3'-hydroxyl groups for efficient exonuclease activity
PMID: 16912046
3
ERI1 missense variants cause spondyloepimetaphyseal dysplasia through defective 5.8S rRNA trimming and histone mRNA degradation; ERI1-mediated RNA metabolism is essential for chondrogenesis
PMID: 37352860
4
ERI1 associates with ribosomes and catalyzes the final trimming step of 5.8S rRNA 3' end processing in the nucleolus
PMID: 18438418
5
ERI1 is a 3'-5' exoribonuclease participating in 5.8S rRNA processing, histone mRNA turnover, and small RNA regulatory pathways including siRNA degradation
PMID: 24929628
6
Influenza A virus co-opts ERI1 bound to histone mRNA to promote viral mRNA transcription through protein-protein interactions with viral ribonucleoproteins
PMID: 32960265
Disease Associationsβ“˜22
spondyloepimetaphyseal dysplasia, Guo-Campeau typeOpen Targets
0.66Moderate
Hoxha-Aliu syndromeOpen Targets
0.57Moderate
hypertensionOpen Targets
0.49Moderate
neurodegenerative diseaseOpen Targets
0.48Moderate
Abnormality of the skeletal systemOpen Targets
0.46Moderate
Increased blood pressureOpen Targets
0.39Weak
hypothyroidismOpen Targets
0.38Weak
Intellectual disabilityOpen Targets
0.37Weak
spondyloepimetaphyseal dysplasiaOpen Targets
0.37Weak
actinic keratosisOpen Targets
0.33Weak
lower urinary tract calculusOpen Targets
0.32Weak
bipolar disorderOpen Targets
0.32Weak
fungal lung infectious diseaseOpen Targets
0.31Weak
pneumoniaOpen Targets
0.31Weak
essential hypertensionOpen Targets
0.31Weak
thyroid cancerOpen Targets
0.30Weak
Global developmental delayOpen Targets
0.27Weak
Abnormal finger morphologyOpen Targets
0.27Weak
Coarse facial featuresOpen Targets
0.27Weak
Unilateral renal agenesisOpen Targets
0.27Weak
Hoxha-Aliu syndromeUniProt
Spondyloepimetaphyseal dysplasia, Guo-Campeau typeUniProt
Pathogenic Variants13
NM_153332.4(ERI1):c.627dup (p.Val210fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 210
NM_153332.4(ERI1):c.401A>G (p.Asp134Gly)Likely pathogenic
See cases|Spondyloepimetaphyseal dysplasia, Guo-Campeau type
β˜…β˜†β˜†β˜†2024β†’ Residue 134
NM_153332.4(ERI1):c.895T>C (p.Ser299Pro)Likely pathogenic
See cases|Spondyloepimetaphyseal dysplasia, Guo-Campeau type
β˜…β˜†β˜†β˜†2024β†’ Residue 299
NM_153332.4(ERI1):c.352A>T (p.Lys118Ter)Likely pathogenic
Hoxha-Aliu syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 118
NM_153332.4(ERI1):c.450A>T (p.Glu150Asp)Likely pathogenic
Spondyloepimetaphyseal dysplasia, Guo-Campeau type
β˜…β˜†β˜†β˜†2024β†’ Residue 150
NM_153332.4(ERI1):c.893A>G (p.Asp298Gly)Likely pathogenic
Spondyloepimetaphyseal dysplasia, Guo-Campeau type
β˜…β˜†β˜†β˜†2024β†’ Residue 298
NM_153332.4(ERI1):c.464C>T (p.Pro155Leu)Likely pathogenic
Spondyloepimetaphyseal dysplasia, Guo-Campeau type
β˜…β˜†β˜†β˜†2024β†’ Residue 155
NM_153332.4(ERI1):c.62C>A (p.Ser21Ter)Likely pathogenic
Spondyloepimetaphyseal dysplasia, Guo-Campeau type
β˜…β˜†β˜†β˜†2024β†’ Residue 21
NM_153332.4(ERI1):c.514C>T (p.Gln172Ter)Likely pathogenic
Hoxha-Aliu syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 172
NM_153332.4(ERI1):c.730C>T (p.Gln244Ter)Likely pathogenic
ERI1-associated disorder|Hoxha-Aliu syndrome
β˜…β˜†β˜†β˜†2020β†’ Residue 244
NM_153332.4(ERI1):c.627del (p.Lys209_Val210insTer)Likely pathogenic
Abnormal finger morphology;Coarse facial features;Unilateral renal agenesis;Global developmental delay
β˜…β˜†β˜†β˜†2018β†’ Residue 209
NM_153332.4(ERI1):c.582+1G>APathogenic
Hoxha-Aliu syndrome
β˜†β˜†β˜†β˜†2024
NM_153332.4(ERI1):c.893A>C (p.Asp298Ala)Pathogenic
Spondyloepimetaphyseal dysplasia, Guo-Campeau type
β˜†β˜†β˜†β˜†2024β†’ Residue 298
View on ClinVar β†—
Related Genes
SLBPProtein interaction100%DICER1Protein interaction97%SYNCRIPProtein interaction94%XRN1Protein interaction89%DEDDProtein interaction88%LSM11Protein interaction80%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
39%
Brain
35%
Liver
29%
Heart
28%
Ovary
26%
Gene Interaction Network
Click a node to explore
ERI1SLBPDICER1SYNCRIPXRN1DEDDLSM11
PROTEIN STRUCTURE
Preparing viewer…
PDB1W0H Β· 1.59 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.53LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.03 [0.71–1.53]
RankingsWhere ERI1 stands among ~20K protein-coding genes
  • #9,326of 20,598
    Most Researched46
  • #2,619of 5,498
    Most Pathogenic Variants13
  • #15,316of 17,882
    Most Constrained (LOEUF)1.53
Genes detectedERI1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Eri1: a conserved enzyme at the crossroads of multiple RNA-processing pathways.
PMID: 24929628
Trends Genet Β· 2014
1.00
2
Congenital Bone Disorders Associated with ERI1-Mediated RNA Metabolism Dysfunction: Spondylo-Epi-Metaphyseal Dysplasia Guo-Campeau Type and Beyond.
PMID: 39945916
Curr Osteoporos Rep Β· 2025
0.90
3
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.
PMID: 37352860
Am J Hum Genet Β· 2023
0.80
4
Influenza A virus co-opts ERI1 exonuclease bound to histone mRNA to promote viral transcription.
PMID: 32960265
Nucleic Acids Res Β· 2020
0.70
5
Mouse Eri1 interacts with the ribosome and catalyzes 5.8S rRNA processing.
PMID: 18438418
Nat Struct Mol Biol Β· 2008
0.60