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    ELAC1 elaC ribonuclease Z 1 [ Homo sapiens (human) ]

    Gene ID: 55520, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ELAC1provided by HGNC
    Official Full Name
    elaC ribonuclease Z 1provided by HGNC
    Primary source
    HGNC:HGNC:14197
    See related
    Ensembl:ENSG00000141642 MIM:608079; AllianceGenome:HGNC:14197
    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
    D29
    Summary
    Enables tRNA-specific ribonuclease activity. Involved in rescue of stalled ribosome and tRNA 3'-end processing. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 4.4), testis (RPKM 3.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ELAC1 in Genome Data Viewer
    Location:
    18q21.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (50968040..50988121)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (51169751..51189833)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (48494410..48514491)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene maestro Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13322 Neighboring gene ribosomal protein L17 pseudogene 46 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:48405277-48405778 Neighboring gene MPRA-validated peak3150 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9459 Neighboring gene malic enzyme 2 Neighboring gene MPRA-validated peak3151 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13323 Neighboring gene uncharacterized LOC107985152 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:48518398-48518898 Neighboring gene Sharpr-MPRA regulatory region 8611 Neighboring gene Sharpr-MPRA regulatory region 5267 Neighboring gene uncharacterized LOC124904303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13324 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:48556194-48556812 Neighboring gene SMAD family member 4

    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. Transcription from the proximal promoter of ELAC1, a gene for tRNA repair, is upregulated by interferons. Seki M, et al. Biochem Biophys Res Commun, 2021 Dec 31. PMID 34808499
    2. Regulation of the human tRNase ZS gene expression. Takahashi M, et al. FEBS Lett, 2008 Jul 23. PMID 18573253
    3. Genes for tRNA recycling are upregulated in response to infection with Theiler's mouse encephalitis virus. Seki M, et al. Biochem Biophys Res Commun, 2022 Jan 8. PMID 34864548
    4. ELAC1 Repairs tRNAs Cleaved during Ribosome-Associated Quality Control. Yip MCJ, et al. Cell Rep, 2020 Feb 18. PMID 32075755, Free PMC Article
    5. Localization of human RNase Z isoforms: dual nuclear/mitochondrial targeting of the ELAC2 gene product by alternative translation initiation. Rossmanith W. PLoS One, 2011 Apr 29. PMID 21559454, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genes for tRNA recycling are upregulated in response to infection with Theiler's mouse encephalitis virus.
      Title: Genes for tRNA recycling are upregulated in response to infection with Theiler's mouse encephalitis virus.
    2. Transcription from the proximal promoter of ELAC1, a gene for tRNA repair, is upregulated by interferons.
      Title: Transcription from the proximal promoter of ELAC1, a gene for tRNA repair, is upregulated by interferons.
    3. ELAC1 Repairs tRNAs Cleaved during Ribosome-Associated Quality Control.
      Title: ELAC1 Repairs tRNAs Cleaved during Ribosome-Associated Quality Control.
    4. Human tRNase ZS gene expression appears to be post-transcriptionally regulated.
      Title: Regulation of the human tRNase ZS gene expression.
    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

    EBI GWAS Catalog

    Description
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: SMAD4

    Homology

    Clone Names

    • FLJ59261

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3'-tRNA processing endoribonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables tRNA-specific ribonuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in rescue of stalled ribosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in tRNA 3'-end processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    zinc phosphodiesterase ELAC protein 1
    Names
    RNase Z 1
    RNaseZ(S)
    deleted in Ma29
    elaC homolog 1
    elaC homolog protein 1
    ribonuclease Z 1
    tRNA 3 endonuclease 1
    tRNA 3' processing endoribonuclease
    tRNA Z (short form)
    tRNase Z 1
    tRNase ZS
    NP_061166.1

    NCBI Reference Sequences (RefSeq)

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    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_018696.3 → NP_061166.1  zinc phosphodiesterase ELAC protein 1

      See identical proteins and their annotated locations for NP_061166.1

      Status: VALIDATED

      Source sequence(s)
      AC087687, AF308695, AI870985
      Consensus CDS
      CCDS11949.1
      UniProtKB/Swiss-Prot
      Q9H777, Q9NS99
      UniProtKB/TrEMBL
      Q53EY2
      Related
      ENSP00000269466.3, ENST00000269466.8
      Conserved Domains (2) summary
      COG1234
      Location:3 → 360
      ElaC; Ribonuclease BN, tRNA processing enzyme [Translation, ribosomal structure and biogenesis]
      TIGR02651
      Location:4 → 359
      RNase_Z; ribonuclease Z

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      50968040..50988121
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      51169751..51189833
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H777.2 GenPept UniProtKB/Swiss-Prot:Q9H777

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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