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ERI1 (Exoribonuclease 1) is a Protein Coding gene. Diseases associated with ERI1 include Locked-In Syndrome and Retinitis Pigmentosa 7. Among its related pathways are rRNA processing in the nucleus and cytosol and DDX1 as a regulatory component of the Drosha microprocessor. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and ribosome binding. An important paralog of this gene is ERI3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000175 | 3'-5'-exoribonuclease activity | TAS | -- |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003723 | RNA binding | IEA | -- |
GO:0004518 | nuclease activity | IEA | -- |
GO:0004527 | exonuclease activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | ISS | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005730 | nucleolus | IBA,ISS | -- |
GO:0005737 | cytoplasm | IBA,ISS | -- |
GO:0071204 | histone pre-mRNA 3'end processing complex | ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | rRNA processing in the nucleus and cytosol |
.89
|
|
2 | Chromatin Regulation / Acetylation | ||
3 | Translational Control | ||
4 | Gene Expression |
.48
|
|
5 | DDX1 as a regulatory component of the Drosha microprocessor |
.33
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000467 | 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 | DNA catabolic process, exonucleolytic | IBA | 21873635 |
GO:0006259 | DNA metabolic process | IBA | 21873635 |
GO:0006364 | rRNA processing | TAS | -- |
GO:0031047 | gene silencing by RNA | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Magnesium | Approved, Experimental, Investigational | Pharma | 0 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||
SP2: | - | ||||||||||||||||||||
SP3: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ERI1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | THEX1 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
ERI1 30 |
|
||||
Dog (Canis familiaris) |
Mammalia | ERI1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Eri1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Eri1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ERI1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ERI1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ERI1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ERI1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | eri1 30 |
|
||
Str.6568 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.8018 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | eri1 30 31 |
|
OneToOne | |
Dr.15106 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.6758 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | eri-1 30 31 |
|
ManyToMany | |
crn-4 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | eri1 30 |
|
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
712692 | Likely Benign: not provided | 9,007,961(+) | T/G | INTRON_VARIANT | |
715007 | Benign: not provided | 8,892,426(+) | C/T | SYNONYMOUS_VARIANT | |
731735 | Likely Benign: not provided | 9,007,961(+) | T/TTG | INTRON_VARIANT | |
752712 | Likely Benign: not provided | 8,892,708(+) | G/A | SYNONYMOUS_VARIANT | |
768227 | Benign: not provided | 9,029,857(+) | G/C | SYNONYMOUS_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3616157 | CNV | loss | 21293372 |
esv3616162 | CNV | loss | 21293372 |
nsv1075109 | CNV | deletion | 25765185 |
nsv610205 | CNV | loss | 21841781 |
nsv831229 | CNV | gain+loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
locked-in syndrome |
|
|
retinitis pigmentosa 7 |
|
|