Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
90459
Gene name Gene Name - the full gene name approved by the HGNC.
Exoribonuclease 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ERI1
Synonyms (NCBI Gene) Gene synonyms aliases
3'HEXO, HEXO, HXAL, SEMDGC, SEMDGS, THEX1
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p23.1
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1563322318 A>- Likely-pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608739 23994 ENSG00000104626
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Myopia Myopia N/A N/A GWAS
Neuroticism Neuroticism N/A N/A GWAS
Spondyloenchondrodysplasia spondyloepimetaphyseal dysplasia, Guo-Campeau type N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Infections Associate 32960265
Spondyloepimetaphyseal Dysplasia X Linked Associate 37352860