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    ERI1 exoribonuclease 1 [ Homo sapiens (human) ]

    Gene ID: 90459, updated on 2-May-2024

    Summary

    Official Symbol
    ERI1provided by HGNC
    Official Full Name
    exoribonuclease 1provided by HGNC
    Primary source
    HGNC:HGNC:23994
    See related
    Ensembl:ENSG00000104626 MIM:608739; AllianceGenome:HGNC:23994
    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
    HEXO; HXAL; THEX1; 3'HEXO; SEMDGC; SEMDGS
    Summary
    Enables 3'-5' exonuclease 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). Located in cytoplasm and nucleolus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 5.2), appendix (RPKM 4.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ERI1 in Genome Data Viewer
    Location:
    8p23.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (9002897..9100104)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (10644016..10741931, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (8860407..8957614)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901866 Neighboring gene Sharpr-MPRA regulatory region 10847 Neighboring gene uncharacterized LOC105379227 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26980 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:8872161-8872870 Neighboring gene NANOG hESC enhancer GRCh37_chr8:8918074-8918619 Neighboring gene microRNA 4660 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:8923326-8923532 Neighboring gene small nucleolar RNA, C/D box 3I Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:8935205-8935705 Neighboring gene RNA, U7 small nuclear 55 pseudogene Neighboring gene uncharacterized LOC112268402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:8989159-8989659 Neighboring gene Sharpr-MPRA regulatory region 9732 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:8997999-8998498 Neighboring gene uncharacterized LOC124901882 Neighboring gene protein phosphatase 1 regulatory subunit 3B

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Hoxha-Aliu syndrome
    MedGen: CN375878 OMIM: 620662 GeneReviews: Not available
    not available
    Spondyloepimetaphyseal dysplasia, Guo-Campeau type
    MedGen: CN375879 OMIM: 620663 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
    EBI GWAS Catalog
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC35395

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3'-5' exonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables 3'-5'-RNA exonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables histone pre-mRNA stem-loop binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables rRNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ribosome binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of histone pre-mRNA 3'end processing complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    3'-5' exoribonuclease 1
    Names
    3' exoribonuclease
    3'-5' exonuclease ERI1
    enhanced RNAi three prime mRNA exonuclease homolog 1
    histone mRNA 3' end-specific exonuclease
    histone mRNA 3'-end-specific exoribonuclease
    histone mRNA 3'-exonuclease 1
    three prime histone mRNA exonuclease 1
    three prime mRNA exonuclease 1

    NCBI Reference Sequences (RefSeq)

    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_001354635.2NP_001341564.1  3'-5' exoribonuclease 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC087579, AC087763
      Conserved Domains (2) summary
      cd06133
      Location:52232
      ERI-1_3'hExo_like; DEDDh 3'-5' exonuclease domain of Caenorhabditis elegans ERI-1, human 3' exonuclease, and similar proteins
      pfam02037
      Location:132
      SAP; SAP domain
    2. NM_001354636.2NP_001341565.1  3'-5' exoribonuclease 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC087579, AC087763
      Conserved Domains (1) summary
      cd06133
      Location:15195
      ERI-1_3'hExo_like; DEDDh 3'-5' exonuclease domain of Caenorhabditis elegans ERI-1, human 3' exonuclease, and similar proteins
    3. NM_001354638.2NP_001341567.1  3'-5' exoribonuclease 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC087579, AC087763
      Conserved Domains (2) summary
      cd06133
      Location:130273
      ERI-1_3'hExo_like; DEDDh 3'-5' exonuclease domain of Caenorhabditis elegans ERI-1, human 3' exonuclease, and similar proteins
      pfam02037
      Location:76110
      SAP; SAP domain
    4. NM_153332.4NP_699163.2  3'-5' exoribonuclease 1 isoform 1

      See identical proteins and their annotated locations for NP_699163.2

      Status: VALIDATED

      Source sequence(s)
      AC087579, AV709794, BC035279
      Consensus CDS
      CCDS5972.1
      UniProtKB/Swiss-Prot
      A8K4U7, Q8IV48, Q9NSX3
      Related
      ENSP00000250263.7, ENST00000250263.8
      Conserved Domains (2) summary
      cd06133
      Location:130310
      ERI-1_3'hExo_like; DEDDh 3'-5' exonuclease domain of Caenorhabditis elegans ERI-1, human 3' exonuclease, and similar proteins
      pfam02037
      Location:76110
      SAP; SAP domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      9002897..9100104
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422402.1XP_047278358.1  3'-5' exoribonuclease 1 isoform X1

    2. XM_005272401.4XP_005272458.1  3'-5' exoribonuclease 1 isoform X3

      See identical proteins and their annotated locations for XP_005272458.1

      Conserved Domains (2) summary
      cd06133
      Location:52232
      ERI-1_3'hExo_like; DEDDh 3'-5' exonuclease domain of Caenorhabditis elegans ERI-1, human 3' exonuclease, and similar proteins
      pfam02037
      Location:132
      SAP; SAP domain
    3. XM_011543849.3XP_011542151.1  3'-5' exoribonuclease 1 isoform X2

      Conserved Domains (2) summary
      cd06133
      Location:130269
      ERI-1_3'hExo_like; DEDDh 3'-5' exonuclease domain of Caenorhabditis elegans ERI-1, human 3' exonuclease, and similar proteins
      pfam02037
      Location:76110
      SAP; SAP domain
    4. XM_011543850.4XP_011542152.1  3'-5' exoribonuclease 1 isoform X3

      See identical proteins and their annotated locations for XP_011542152.1

      Conserved Domains (2) summary
      cd06133
      Location:52232
      ERI-1_3'hExo_like; DEDDh 3'-5' exonuclease domain of Caenorhabditis elegans ERI-1, human 3' exonuclease, and similar proteins
      pfam02037
      Location:132
      SAP; SAP domain

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p14 PATCHES

      Range
      4251550..4349758 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332274.1XP_054188249.1  3'-5' exoribonuclease 1 isoform X4

    2. XM_054332275.1XP_054188250.1  3'-5' exoribonuclease 1 isoform X2

    3. XM_054332277.1XP_054188252.1  3'-5' exoribonuclease 1 isoform X3

    4. XM_054332276.1XP_054188251.1  3'-5' exoribonuclease 1 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      10644016..10741931 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361466.1XP_054217441.1  3'-5' exoribonuclease 1 isoform X1

    2. XM_054361465.1XP_054217440.1  3'-5' exoribonuclease 1 isoform X1

    3. XM_054361467.1XP_054217442.1  3'-5' exoribonuclease 1 isoform X2

    4. XM_054361464.1XP_054217439.1  3'-5' exoribonuclease 1 isoform X5

    5. XM_054361468.1XP_054217443.1  3'-5' exoribonuclease 1 isoform X3