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ERI1 (exoribonuclease 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
90459
Gene nameGene Name - the full gene name approved by the HGNC.
Exoribonuclease 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ERI1
SynonymsGene synonyms aliases
3'HEXO, HEXO, HXAL, SEMDGC, SEMDGS, THEX1
ChromosomeChromosome number
8
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p23.1
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1563322318 A>- Likely-pathogenic Coding sequence variant, frameshift variant
miRNAmiRNA 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'-exoribonuclease activity IBA 21873635
GO:0000175 Function 3'-5'-exoribonuclease activity TAS
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 21873635
GO:0000738 Process DNA catabolic process, exonucleolytic IBA 21873635
GO:0005515 Function Protein binding IPI 23329046, 23804756
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Major pathway of rRNA processing in the nucleolus and cytosol
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Narcolepsy Narcolepsy rs104894574, rs387906655 19629137
Unknown
Disease name Disease term dbSNP ID References
Renal aplasia Unilateral agenesis of kidney

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