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    RNASEL ribonuclease L [ Homo sapiens (human) ]

    Gene ID: 6041, updated on 3-Dec-2024

    Summary

    Official Symbol
    RNASELprovided by HGNC
    Official Full Name
    ribonuclease Lprovided by HGNC
    Primary source
    HGNC:HGNC:10050
    See related
    Ensembl:ENSG00000135828 MIM:180435; AllianceGenome:HGNC:10050
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RNS4; PRCA1
    Summary
    This gene encodes a component of the interferon-regulated 2-5A system that functions in the antiviral and antiproliferative roles of interferons. The protein is involved in innate immunity and is active against multiple RNA viruses, including the influenza and SARS-CoV-2 viruses. Mutations in this gene have been associated with predisposition to prostate cancer and this gene is a candidate for the hereditary prostate cancer 1 (HPC1) allele. [provided by RefSeq, Nov 2021]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
    Expression
    Ubiquitous expression in thyroid (RPKM 5.0), ovary (RPKM 4.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RNASEL in Genome Data Viewer
    Location:
    1q25.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (182573634..182589256, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (181933110..181948734, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (182542769..182558391, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:182419119-182419726 Neighboring gene transmembrane epididymal protein 2, pseudogene Neighboring gene regulator of G protein signaling like 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:182443692-182444891 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2197 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2203 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:182584000-182584897 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:182584926-182585474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:182585475-182586022 Neighboring gene regulator of G protein signaling 16 Neighboring gene long intergenic non-protein coding RNA 1686

    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
    Prostate cancer, hereditary, 1
    MedGen: C4722327 OMIM: 601518 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study of brain lesion distribution in multiple sclerosis.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC104972, MGC133329, DKFZp781D08126

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA endonuclease activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables RNA nuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA nuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables rRNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ribonucleoprotein complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in RNA processing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in defense response to virus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in defense response to virus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of viral genome replication IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of viral genome replication IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of D-glucose import IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein phosphorylation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in rRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of mRNA stability IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    2-5A-dependent ribonuclease
    Names
    2',5'-oligoisoadenylate synthetase-dependent
    2-5A-dependent RNase
    RNase L
    interferon-induced 2-5A-dependent RNase
    ribonuclease 4
    NP_066956.1
    XP_047283052.1
    XP_047283062.1
    XP_054194043.1
    XP_054194044.1

    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.

    Genomic

    1. NG_009024.3 RefSeqGene

      Range
      5000..20622
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_021133.4NP_066956.1  2-5A-dependent ribonuclease

      See identical proteins and their annotated locations for NP_066956.1

      Status: REVIEWED

      Source sequence(s)
      AL138776
      Consensus CDS
      CCDS1347.1
      UniProtKB/Swiss-Prot
      Q05823, Q5W0L2, Q6AI46
      UniProtKB/TrEMBL
      Q1RLL8
      Related
      ENSP00000356530.3, ENST00000367559.7
      Conserved Domains (6) summary
      cd10423
      Location:590708
      RNase_RNase-L; RNase domain (also known as the kinase extension nuclease domain) of RNase L
      cd00204
      Location:59188
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam00069
      Location:387586
      Pkinase; Protein kinase domain
      pfam12796
      Location:29122
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:5989
      ANK; ANK repeat [structural motif]
      cl21453
      Location:375587
      PKc_like; Protein Kinases, catalytic domain

    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
      182573634..182589256 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427096.1XP_047283052.1  2-5A-dependent ribonuclease isoform X1

      UniProtKB/TrEMBL
      Q1RLL8
    2. XM_047427106.1XP_047283062.1  2-5A-dependent ribonuclease isoform X2

      UniProtKB/TrEMBL
      Q1RLL8
      Related
      ENSP00000440844.1, ENST00000539397.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      181933110..181948734 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338068.1XP_054194043.1  2-5A-dependent ribonuclease isoform X1

      UniProtKB/TrEMBL
      Q1RLL8
    2. XM_054338069.1XP_054194044.1  2-5A-dependent ribonuclease isoform X2

      UniProtKB/TrEMBL
      Q1RLL8