ERI1 Gene (Protein Coding)

Exoribonuclease 1

GC08P008892
GIFtS:
38
See more...

Aliases for ERI1 Gene

Aliases for ERI1 Gene

  • Exoribonuclease 1 2 3 5
  • Histone MRNA 3'-End-Specific Exoribonuclease 3 4
  • Three Prime Histone MRNA Exonuclease 1 2 3
  • Histone MRNA 3'-Exonuclease 1 3 4
  • 3'-5' Exoribonuclease 1 3 4
  • 3'-5' Exonuclease ERI1 3 4
  • 3'HEXO 2 3
  • THEX1 3 4
  • HEXO 3 4
  • Enhanced RNAi Three Prime MRNA Exonuclease Homolog 1 (C.Elegans) 2
  • Enhanced RNAi Three Prime MRNA Exonuclease Homolog 1 3
  • Histone MRNA 3' End-Specific Exonuclease 3
  • Three Prime MRNA Exonuclease 1 3
  • 3' Exoribonuclease 3
  • Protein 3'HExo 4
  • Eri-1 Homolog 4
  • EC 3.1.-.- 4
  • 3'EXO 4
  • ERI1 5

External Ids for ERI1 Gene

Previous HGNC Symbols for ERI1 Gene

  • THEX1

Previous GeneCards Identifiers for ERI1 Gene

  • GC08P008900
  • GC08P007785
  • GC08P009002

Summaries for ERI1 Gene

GeneCards Summary for ERI1 Gene

ERI1 (Exoribonuclease 1) is a Protein Coding gene. Diseases associated with ERI1 include Locked-In Syndrome and Renal Hypodysplasia/Aplasia 3. Among its related pathways are rRNA processing in the nucleus and cytosol and Translational Control. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and ribosome binding. An important paralog of this gene is ERI3.

UniProtKB/Swiss-Prot Summary for ERI1 Gene

  • 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. A 2' and 3'-hydroxyl groups at the last nucleotide of the histone 3'-end is required for efficient degradation of RNA substrates. Also able to degrade the 3'-overhangs of short interfering RNAs (siRNAs) in vitro, suggesting a possible role as regulator of RNA interference (RNAi). Requires for binding the 5'-ACCCA-3' sequence present in stem-loop structure. Able to bind other mRNAs. Required for 5.8S rRNA 3'-end processing. Also binds to 5.8s ribosomal RNA. Binds with high affinity to the stem-loop structure of replication-dependent histone pre-mRNAs.

Additional gene information for ERI1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ERI1 Gene

Genomics for ERI1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ERI1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ERI1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ERI1

Top Transcription factor binding sites by QIAGEN in the ERI1 gene promoter:
  • ATF-2
  • c-Ets-1
  • CRE-BP1
  • HNF-3beta
  • Ik-1
  • Pax-2
  • Pax-2a
  • Pax-2b
  • POU6F1 (c2)
  • RORalpha1

Genomic Locations for ERI1 Gene

Latest Assembly
chr8:8,892,225-9,116,746
(GRCh38/hg38)
Size:
224,522 bases
Orientation:
Plus strand

Previous Assembly
chr8:8,860,407-8,957,614
(GRCh37/hg19 by Entrez Gene)
Size:
97,208 bases
Orientation:
Plus strand

chr8:8,859,657-8,974,256
(GRCh37/hg19 by Ensembl)
Size:
114,600 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr8(PATCHES):4,251,550-4,349,048 (-)

Genomic View for ERI1 Gene

Genes around ERI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERI1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ERI1 Gene

Proteins for ERI1 Gene

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  1. Antibodies for research
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  3. Assay products for research

  • Protein details for ERI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IV48-ERI1_HUMAN
    Recommended name:
    3'-5' exoribonuclease 1
    Protein Accession:
    Q8IV48
    Secondary Accessions:
    • A8K4U7
    • Q9NSX3

    Protein attributes for ERI1 Gene

    Size:
    349 amino acids
    Molecular mass:
    40064 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Identified in a histone pre-mRNA complex, at least composed of ERI1, LSM11, SLBP, SNRPB, SYNCRIP and YBX1. Interacts in a cooperative manner with SLBP to the mature 3'-end of histone mRNAs (By similarity). Binds to 40S and 60S ribosomal subunits and to 80S assembled ribosomes. Found in a ternary complex with SLBP and the stem-loop structure of the 3'-end of histone mRNAs.
    SequenceCaution:
    • Sequence=CAB70871.2; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305}; Sequence=CAB70871.2; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ERI1 Gene

neXtProt entry for ERI1 Gene

Protein Expression for ERI1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ERI1 Gene

  • Ubiquitination at Lys67 and Lys269
  • Modification sites at PhosphoSitePlus

Other Protein References for ERI1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ERI1 Gene

Domains & Families for ERI1 Gene

Gene Families for ERI1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ERI1 Gene

InterPro:
Blocks:
  • Exonuclease
  • DNA-binding SAP

Suggested Antigen Peptide Sequences for ERI1 Gene

GenScript: Design optimal peptide antigens:
  • Protein 3'hExo (ERI1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IV48

UniProtKB/Swiss-Prot:

ERI1_HUMAN :
  • The SAP domain is necessary for binding to the stem-loop structure of histone mRNAs and to form the ternary complex with SLBP, but not for 3'-end histone mRNA exonuclease activity.
Domain:
  • The SAP domain is necessary for binding to the stem-loop structure of histone mRNAs and to form the ternary complex with SLBP, but not for 3'-end histone mRNA exonuclease activity.
genes like me logo Genes that share domains with ERI1: view

Function for ERI1 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for ERI1 Gene

UniProtKB/Swiss-Prot 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. A 2' and 3'-hydroxyl groups at the last nucleotide of the histone 3'-end is required for efficient degradation of RNA substrates. Also able to degrade the 3'-overhangs of short interfering RNAs (siRNAs) in vitro, suggesting a possible role as regulator of RNA interference (RNAi). Requires for binding the 5'-ACCCA-3' sequence present in stem-loop structure. Able to bind other mRNAs. Required for 5.8S rRNA 3'-end processing. Also binds to 5.8s ribosomal RNA. Binds with high affinity to the stem-loop structure of replication-dependent histone pre-mRNAs.
UniProtKB/Swiss-Prot EnzymeRegulation:
Although it can bind simultaneously with SLBP to the 3'-end of histone mRNA, the presence of SLBP prevents the exonuclease activity.

Enzyme Numbers (IUBMB) for ERI1 Gene

Phenotypes From GWAS Catalog for ERI1 Gene

Gene Ontology (GO) - Molecular Function for ERI1 Gene

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 --
genes like me logo Genes that share ontologies with ERI1: view
genes like me logo Genes that share phenotypes with ERI1: view

Animal Models for ERI1 Gene

MGI Knock Outs for ERI1:
  • Eri1 Eri1<tm1.2Anse>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERI1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ERI1 Gene

Localization for ERI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERI1 Gene

Cytoplasm. Nucleus. Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ERI1 gene
Compartment Confidence
nucleus 5
cytoskeleton 3
extracellular 2
cytosol 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ERI1 Gene

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 --
genes like me logo Genes that share ontologies with ERI1: view

Pathways & Interactions for ERI1 Gene

genes like me logo Genes that share pathways with ERI1: view

Pathways by source for ERI1 Gene

1 BioSystems pathway for ERI1 Gene
2 Cell Signaling Technology pathways for ERI1 Gene

Interacting Proteins for ERI1 Gene

Selected Interacting proteins: Q8IV48-ERI1_HUMAN for ERI1 Gene via UniProtKB IID

GPS-Prot Interaction Network for ERI1

Gene Ontology (GO) - Biological Process for ERI1 Gene

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:0006364 rRNA processing TAS --
GO:0031047 gene silencing by RNA IEA --
GO:0031125 rRNA 3'-end processing ISS --
genes like me logo Genes that share ontologies with ERI1: view

No data available for SIGNOR curated interactions for ERI1 Gene

Drugs & Compounds for ERI1 Gene

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  1. Drug products for research

(1) Drugs for ERI1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
genes like me logo Genes that share compounds with ERI1: view

Transcripts for ERI1 Gene

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mRNA/cDNA for ERI1 Gene

4 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERI1

Alternative Splicing Database (ASD) splice patterns (SP) for ERI1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: - -
SP2: -
SP3:

Relevant External Links for ERI1 Gene

GeneLoc Exon Structure for
ERI1

Expression for ERI1 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ERI1 Gene

mRNA expression in normal human tissues for ERI1 Gene
mRNA expression by GTEx for ERI1 GenemRNA expression by BioGPS for ERI1 Gene

Protein differential expression in normal tissues from HIPED for ERI1 Gene

This gene is overexpressed in Lung (53.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ERI1 Gene



Protein tissue co-expression partners for ERI1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ERI1

SOURCE GeneReport for Unigene cluster for ERI1 Gene:

Hs.20000

Evidence on tissue expression from TISSUES for ERI1 Gene

  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with ERI1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ERI1 Gene

Orthologs for ERI1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ERI1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ERI1 29 30
  • 99.52 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia THEX1 30
  • 90 (a)
 OneToMany
-- 30
  • 87 (a)
 OneToMany
ERI1 29
  • 86.91 (n)
Dog
(Canis familiaris)
 Mammalia ERI1 29 30
  • 89.97 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Eri1 29
  • 83.86 (n)
Mouse
(Mus musculus)
 Mammalia Eri1 29 16 30
  • 82.42 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia ERI1 30
  • 82 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ERI1 30
  • 76 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ERI1 29 30
  • 73.92 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ERI1 30
  • 77 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia eri1 29
  • 70.77 (n)
Str.6568 29
African clawed frog
(Xenopus laevis)
 Amphibia Xl.8018 29
Zebrafish
(Danio rerio)
 Actinopterygii eri1 29 30
  • 66.32 (n)
 OneToOne
Dr.15106 29
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.6758 29
Worm
(Caenorhabditis elegans)
 Secernentea eri-1 29 30
  • 48.84 (n)
 ManyToMany
crn-4 30
  • 21 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 51 (a)
 OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes eri1 29
  • 47.72 (n)
Species where no ortholog for ERI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ERI1 Gene

ENSEMBL:
Gene Tree for ERI1 (if available)
TreeFam:
Gene Tree for ERI1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ERI1: view image
Alliance of Genome Resources:
Additional Orthologs for ERI1

Paralogs for ERI1 Gene

Paralogs for ERI1 Gene

genes like me logo Genes that share paralogs with ERI1: view

Variants for ERI1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ERI1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
976768 Likely Pathogenic: ERI1-associated disorder 9,020,387(+) C/T
NM_153332.4(ERI1):c.730C>T (p.Gln244Ter) 		NONSENSE
rs115597655 Benign: not provided 8,892,823(+) G/C
NM_004225.3(MFHAS1):c.236C>G (p.Pro79Arg) 		MISSENSE
rs141278509 Benign: not provided 8,892,735(+) C/T
NM_004225.3(MFHAS1):c.324G>A (p.Glu108=) 		SYNONYMOUS
rs1563322318 Likely Pathogenic: Unilateral renal agenesis; Coarse facial features; Global developmental delay; Abnormality of finger 9,018,334(+) TA/T
NM_153332.4(ERI1):c.627del (p.Lys209_Val210insTer) 		FRAMESHIFT
rs1585184680 Likely Benign: not provided 9,007,961(+) T/TTG
NM_153332.4(ERI1):c.109-8_109-7insGT 		INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ERI1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ERI1 Gene

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

Variation tolerance for ERI1 Gene

Residual Variation Intolerance Score: 17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.80; 33.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ERI1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERI1
Leiden Open Variation Database (LOVD)
ERI1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERI1 Gene

Disorders for ERI1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ERI1 Gene - From: CVR and COP

Disorder Aliases PubMed IDs
locked-in syndrome
  • locked in syndrome
renal hypodysplasia/aplasia 3
  • rhda3
x-linked nephrolithiasis type i
  • nephrolithiasis 1
retinitis pigmentosa 7
  • rp7
perlman syndrome
  • prlmns
- elite association - COSMIC cancer census association via MalaCards
Search ERI1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ERI1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ERI1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ERI1 Gene

Publications for ERI1 Gene

  1. Characterization of 3'hExo, a 3' exonuclease specifically interacting with the 3' end of histone mRNA. (PMID: 16912046) Yang XC … Dominski Z (The Journal of biological chemistry 2006) 3 4 22
  2. Crystallographic structure of the nuclease domain of 3'hExo, a DEDDh family member, bound to rAMP. (PMID: 15451662) Cheng Y … Patel DJ (Journal of molecular biology 2004) 3 4 22
  3. A 3' exonuclease that specifically interacts with the 3' end of histone mRNA. (PMID: 14536070) Dominski Z … Marzluff WF (Molecular cell 2003) 2 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

ExternalLinks

View latest publications for ERI1 gene in Mastermind

Products for ERI1 Gene

Sources for ERI1 Gene