ERI1

Chr 8p23.1

exoribonuclease 1

Aliases:: 3'HEXO
MANE:: ENST00000250263.8

OMIM: 608739 ↗NCBI: 90459 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ERI1 · Q8IV48

v62025-08-01

Predicted Aligned Error matrix for ERI1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.3/ 100

Confident

349 residues

Confidence breakdown

Very high(≥ 90)76%
Confident(70–90)4%
Low(50–70)2%
Very low(< 50)18%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

spondyloepimetaphyseal dysplasia, Guo-Campeau type
0.66
Hoxha-Aliu syndrome
0.57
neurodegenerative disease
0.48
hypertensive disorder
0.46
Abnormality of the skeletal system
0.43
hypothyroidism
0.42
Intellectual disability
0.37
spondyloepimetaphyseal dysplasia
0.37
spondyloepimetaphyseal dysplasia, matrilin-3 type
0.37
Increased blood pressure
0.35

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

Protein function (UniProt)

3'-5' exoribonuclease 1

RNA exonuclease that binds to the 3'-end of histone mRNAs and degrades them, suggesting that it plays an essential role in histone mRNA decay after replication (PubMed:14536070, PubMed:16912046, PubMed:17135487, PubMed:37352860). A 2' and 3'-hydroxyl groups at the last nucleotide of the histone 3'-end is required for efficient 3'-end histone mRNA exonuclease activity and degradation of RNA substrates (PubMed:14536070, PubMed:16912046, PubMed:17135487). Also able to degrade the 3'-overhangs of short interfering RNAs (siRNAs) in vitro, suggesting a possible role as regulator of RNA interference (RNAi) (PubMed:14961122). Required for binding the 5'-ACCCA-3' sequence present in stem-loop structure (PubMed:14536070, PubMed:16912046). Able to bind other mRNAs (PubMed:14536070, PubMed:16912046). Required for 5.8S rRNA 3'-end processing (PubMed:37352860). Also binds to 5.8s ribosomal RNA (By similarity). Binds with high affinity to the stem-loop structure of replication-dependent histone pre-mRNAs (PubMed:14536070, PubMed:16912046, PubMed:17135487). In vitro, does not have sequence specificity (PubMed:17135487). In vitro, has weak DNA exonuclease activity (PubMed:17135487). In vitro, shows biphasic kinetics such that there is rapid hydrolysis of the last three unpaired RNA nucleotides in the 39 flanking sequence followed by a much slower cleavage through the stem that occurs over a longer incubation period in the order of hours (PubMed:17135487). ERI1-mediated RNA metabolism plays a key role in chondrogenesis (PubMed:37352860)