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    ERI3 ERI1 exoribonuclease family member 3 [ Homo sapiens (human) ]

    Gene ID: 79033, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ERI3provided by HGNC
    Official Full Name
    ERI1 exoribonuclease family member 3provided by HGNC
    Primary source
    HGNC:HGNC:17276
    See related
    Ensembl:ENSG00000117419 MIM:609917; AllianceGenome:HGNC:17276
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PINT1; PRNPIP
    Summary
    Enables RNA binding activity. Predicted to be involved in exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 26.0), testis (RPKM 24.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ERI3 in Genome Data Viewer
    Location:
    1p34.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (44221070..44355279, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (44091960..44226198, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (44686742..44820951, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene metaxin 3 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 807 Neighboring gene Sharpr-MPRA regulatory region 23 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44679987-44680488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44680489-44680988 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 808 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44703705-44704348 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44705759-44706387 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44706388-44707016 Neighboring gene ERI3 intronic transcript 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44714707-44715318 Neighboring gene VISTA enhancer hs277 Neighboring gene DNA methyltransferase 1 associated protein 1 Neighboring gene small nucleolar RNA, H/ACA box 110 Neighboring gene Sharpr-MPRA regulatory region 3045 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_8150 Neighboring gene NANOG hESC enhancer GRCh37_chr1:44805333-44805834 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:44820763-44821263 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:44834096-44834628 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:44839934-44840144 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_8167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44871820-44872342 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:44874109-44874785 Neighboring gene RNA, U6 small nuclear 369, pseudogene Neighboring gene MPRA-validated peak196 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr1:44902025-44902526 Neighboring gene ring finger protein 220 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44950064-44950942 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44949184-44950063 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44961950-44962450 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44972171-44972671 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44972832-44973468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44973469-44974104 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:44987221-44987386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44988460-44989317 Neighboring gene VISTA enhancer hs280 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:45007461-45008268 Neighboring gene microRNA 5584

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Failure to Replicate an Association of a LINE-1 Element in ERI1 Exoribonuclease Family Member 3 (ERI3) with Schizophrenia. Doyle GA, et al. Neuropsychopharmacology, 2017 Dec. PMID 29123232, Free PMC Article
    2. PrPC directly interacts with proteins involved in signaling pathways. Spielhaupter C, et al. J Biol Chem, 2001 Nov 30. PMID 11571277
    3. CPEB2-eEF2 interaction impedes HIF-1α RNA translation. Chen PJ, et al. EMBO J, 2012 Feb 15. PMID 22157746, Free PMC Article
    4. Spindle Assembly Checkpoint Inhibition Can Resensitize p53-Null Stem Cells to Cancer Chemotherapy. Liu C, et al. Cancer Res, 2019 May 1. PMID 30862715, Free PMC Article
    5. Shifted Transversal Design smart-pooling for high coverage interactome mapping. Xin X, et al. Genome Res, 2009 Jul. PMID 19447967, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The conclude of this study that the particular LINE-1 element within the ERI3 gene does not associate with the schizophrenia phenotype in European Americans.
      Title: Failure to Replicate an Association of a LINE-1 Element in ERI1 Exoribonuclease Family Member 3 (ERI3) with Schizophrenia.
    2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of ERI1 exoribonuclease family member 3 (ERI3) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC2683, FLJ22943

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3'-5'-RNA exonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA binding HDA PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ERI1 exoribonuclease 3
    Names
    enhanced RNAi three prime mRNA exonuclease homolog 3
    prion interactor 1
    prion protein-interacting protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001301698.2 → NP_001288627.1  ERI1 exoribonuclease 3 isoform 2

      See identical proteins and their annotated locations for NP_001288627.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AF007157, AK290567, BC144384
      UniProtKB/TrEMBL
      B4DN03
      Conserved Domains (1) summary
      cd06133
      Location:68 → 245
      ERI-1_3'hExo_like; DEDDh 3'-5' exonuclease domain of Caenorhabditis elegans ERI-1, human 3' exonuclease, and similar proteins

    2. NM_001301699.1 → NP_001288628.1  ERI1 exoribonuclease 3 isoform 2

      See identical proteins and their annotated locations for NP_001288628.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate exon in the 5' region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AF007157, AK297708, DC413416
      UniProtKB/TrEMBL
      B4DN03
      Conserved Domains (1) summary
      cd06133
      Location:68 → 245
      ERI-1_3'hExo_like; DEDDh 3'-5' exonuclease domain of Caenorhabditis elegans ERI-1, human 3' exonuclease, and similar proteins

    3. NM_001301700.1 → NP_001288629.1  ERI1 exoribonuclease 3 isoform 3

      See identical proteins and their annotated locations for NP_001288629.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has multiple differences, compared to variant 1. These differences result in translation initiation at a downstream start codon and a frameshift, resulting in use of an early stop codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus and a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AF007157, AK293833, BI765887, DC413416
      UniProtKB/Swiss-Prot
      O43414
      UniProtKB/TrEMBL
      B4DEX5
      Conserved Domains (1) summary
      cd06133
      Location:68 → 203
      ERI-1_3'hExo_like; DEDDh 3'-5' exonuclease domain of Caenorhabditis elegans ERI-1, human 3' exonuclease, and similar proteins

    4. NM_001301701.1 → NP_001288630.1  ERI1 exoribonuclease 3 isoform 4

      See identical proteins and their annotated locations for NP_001288630.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' region, compared to variant 1, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AF007157, AK293833, DC413416
      UniProtKB/TrEMBL
      B4DEX5
      Conserved Domains (1) summary
      cd06133
      Location:1 → 146
      ERI-1_3'hExo_like; DEDDh 3'-5' exonuclease domain of Caenorhabditis elegans ERI-1, human 3' exonuclease, and similar proteins

    5. NM_024066.3 → NP_076971.1  ERI1 exoribonuclease 3 isoform 1

      See identical proteins and their annotated locations for NP_076971.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF007157, AK290567, AK293833
      Consensus CDS
      CCDS30696.1
      UniProtKB/Swiss-Prot
      B1AK98, O43414, Q5T2T7, Q5T2T9, Q5TG35, Q9BQA0, Q9UEB4
      UniProtKB/TrEMBL
      A0A3B3ISV9
      Related
      ENSP00000361331.2, ENST00000372257.7
      Conserved Domains (1) summary
      cd06133
      Location:146 → 323
      ERI-1_3'hExo_like; DEDDh 3'-5' exonuclease domain of Caenorhabditis elegans ERI-1, human 3' exonuclease, and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      44221070..44355279 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017002305.2 → XP_016857794.1  ERI1 exoribonuclease 3 isoform X8

      UniProtKB/TrEMBL
      B4DEX5
      Conserved Domains (1) summary
      cd06133
      Location:1 → 146
      ERI-1_3'hExo_like; DEDDh 3'-5' exonuclease domain of Caenorhabditis elegans ERI-1, human 3' exonuclease, and similar proteins

    2. XM_047430152.1 → XP_047286108.1  ERI1 exoribonuclease 3 isoform X7

    3. XM_047430144.1 → XP_047286100.1  ERI1 exoribonuclease 3 isoform X5

      UniProtKB/TrEMBL
      B4DN03

    4. XM_017002302.2 → XP_016857791.1  ERI1 exoribonuclease 3 isoform X7

      Conserved Domains (1) summary
      cd06133
      Location:68 → 203
      ERI-1_3'hExo_like; DEDDh 3'-5' exonuclease domain of Caenorhabditis elegans ERI-1, human 3' exonuclease, and similar proteins

    5. XM_024449712.2 → XP_024305480.1  ERI1 exoribonuclease 3 isoform X5

      UniProtKB/TrEMBL
      B4DN03
      Conserved Domains (1) summary
      cd06133
      Location:68 → 245
      ERI-1_3'hExo_like; DEDDh 3'-5' exonuclease domain of Caenorhabditis elegans ERI-1, human 3' exonuclease, and similar proteins

    6. XM_017002303.3 → XP_016857792.1  ERI1 exoribonuclease 3 isoform X5

      UniProtKB/TrEMBL
      B4DN03
      Conserved Domains (1) summary
      cd06133
      Location:68 → 245
      ERI-1_3'hExo_like; DEDDh 3'-5' exonuclease domain of Caenorhabditis elegans ERI-1, human 3' exonuclease, and similar proteins

    7. XM_017002304.3 → XP_016857793.1  ERI1 exoribonuclease 3 isoform X4

      UniProtKB/TrEMBL
      F6QUN3
      Related
      ENSP00000396764.1, ENST00000452396.5
      Conserved Domains (1) summary
      cd06133
      Location:35 → 205
      ERI-1_3'hExo_like; DEDDh 3'-5' exonuclease domain of Caenorhabditis elegans ERI-1, human 3' exonuclease, and similar proteins

    8. XM_017002301.2 → XP_016857790.1  ERI1 exoribonuclease 3 isoform X1

      UniProtKB/TrEMBL
      A0A3B3ISV9
      Conserved Domains (1) summary
      cd06133
      Location:144 → 321
      ERI-1_3'hExo_like; DEDDh 3'-5' exonuclease domain of Caenorhabditis elegans ERI-1, human 3' exonuclease, and similar proteins

    9. XM_005271186.3 → XP_005271243.1  ERI1 exoribonuclease 3 isoform X2

      See identical proteins and their annotated locations for XP_005271243.1

      UniProtKB/TrEMBL
      F6UGJ8
      Related
      ENSP00000412291.1, ENST00000457571.1
      Conserved Domains (1) summary
      cd06133
      Location:146 → 281
      ERI-1_3'hExo_like; DEDDh 3'-5' exonuclease domain of Caenorhabditis elegans ERI-1, human 3' exonuclease, and similar proteins

    10. XM_047430139.1 → XP_047286095.1  ERI1 exoribonuclease 3 isoform X3

    11. XM_047430146.1 → XP_047286102.1  ERI1 exoribonuclease 3 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      44091960..44226198 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338683.1 → XP_054194658.1  ERI1 exoribonuclease 3 isoform X8

      UniProtKB/TrEMBL
      B4DEX5

    2. XM_054338680.1 → XP_054194655.1  ERI1 exoribonuclease 3 isoform X7

    3. XM_054338677.1 → XP_054194652.1  ERI1 exoribonuclease 3 isoform X5

      UniProtKB/TrEMBL
      B4DN03

    4. XM_054338679.1 → XP_054194654.1  ERI1 exoribonuclease 3 isoform X7

    5. XM_054338682.1 → XP_054194657.1  ERI1 exoribonuclease 3 isoform X5

      UniProtKB/TrEMBL
      B4DN03

    6. XM_054338681.1 → XP_054194656.1  ERI1 exoribonuclease 3 isoform X5

      UniProtKB/TrEMBL
      B4DN03

    7. XM_054338676.1 → XP_054194651.1  ERI1 exoribonuclease 3 isoform X4

    8. XM_054338673.1 → XP_054194648.1  ERI1 exoribonuclease 3 isoform X1

    9. XM_054338674.1 → XP_054194649.1  ERI1 exoribonuclease 3 isoform X2

    10. XM_054338675.1 → XP_054194650.1  ERI1 exoribonuclease 3 isoform X3

    11. XM_054338678.1 → XP_054194653.1  ERI1 exoribonuclease 3 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43414.2 GenPept UniProtKB/Swiss-Prot:O43414

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