Gene Gene information from NCBI Gene database.
Entrez ID 90459
Gene name Exoribonuclease 1
Gene symbol ERI1
Synonyms (NCBI Gene)
3'HEXOHEXOHXALSEMDGCSEMDGSTHEX1
Chromosome 8
Chromosome location 8p23.1
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1563322318 A>- Likely-pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
503
miRTarBase ID miRNA Experiments Reference
MIRT020545 hsa-miR-155-5p Proteomics 18668040
MIRT047993 hsa-miR-30c-5p CLASH 23622248
MIRT650237 hsa-miR-20a-3p HITS-CLIP 23824327
MIRT650236 hsa-miR-4724-3p HITS-CLIP 23824327
MIRT650235 hsa-miR-544a HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000175 Function 3'-5'-RNA exonuclease activity IBA
GO:0000175 Function 3'-5'-RNA exonuclease activity IEA
GO:0000460 Process Maturation of 5.8S rRNA IMP 37352860
GO:0000467 Process Exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
GO:0003676 Function Nucleic acid binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608739 23994 ENSG00000104626
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IV48
Protein name 3'-5' exoribonuclease 1 (EC 3.1.13.1) (3'-5' exonuclease ERI1) (Eri-1 homolog) (Histone mRNA 3'-end-specific exoribonuclease) (Histone mRNA 3'-exonuclease 1) (Protein 3'hExo) (HEXO)
Protein function 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'-hyd
PDB 1W0H , 1ZBH , 1ZBU , 4L8R , 4QOZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02037 SAP 76 110 SAP domain Family
PF00929 RNase_T 131 306 Exonuclease Family
Sequence
Sequence length 349
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Major pathway of rRNA processing in the nucleolus and cytosol
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal finger morphology Likely pathogenic rs1563322318 RCV000714292
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coarse facial features Likely pathogenic rs1563322318 RCV000714292
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ERI1-associated disorder Likely pathogenic rs766625084 RCV001254154
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay Likely pathogenic rs1563322318 RCV000714292
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Global developmental delay Developmental Delay CLINVAR_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability Mental retardation BEFREE 28488351
★☆☆☆☆
Found in Text Mining only
Narcolepsy Narcolepsy GWASDB_DG 19629137
★☆☆☆☆
Found in Text Mining only
Unilateral agenesis of kidney Renal aplasia CLINVAR_DG
★☆☆☆☆
Found in Text Mining only