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    RNASEL ribonuclease L [ Homo sapiens (human) ]

    Gene ID: 6041, updated on 7-Dec-2018

    Summary

    Official Symbol
    RNASELprovided by HGNC
    Official Full Name
    ribonuclease Lprovided by HGNC
    Primary source
    HGNC:HGNC:10050
    See related
    Ensembl:ENSG00000135828 MIM:180435
    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. 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, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 5.0), ovary (RPKM 4.7) and 25 other tissues See more
    Orthologs

    Genomic context

    See RNASEL in Genome Data Viewer
    Location:
    1q25.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (182573634..182589285, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (182542769..182558420, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene transmembrane epididymal protein 2, pseudogene Neighboring gene regulator of G protein signaling like 1 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 FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Prostate cancer, hereditary, 1
    MedGen: C2931456 OMIM: 601518 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of brain lesion distribution in multiple sclerosis.
    NHGRI GWA 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 BioSystems

    • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
      ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Hepatitis C, organism-specific biosystem (from KEGG)
      Hepatitis C, organism-specific biosystemHepatitis C virus (HCV) is a major cause of chronic liver disease. The HCV employ several strategies to perturb host cell immunity. After invasion, HCV RNA genome functions directly as an mRNA in the...
    • Hepatitis C, conserved biosystem (from KEGG)
      Hepatitis C, conserved biosystemHepatitis C virus (HCV) is a major cause of chronic liver disease. The HCV employ several strategies to perturb host cell immunity. After invasion, HCV RNA genome functions directly as an mRNA in the...
    • Herpes simplex infection, organism-specific biosystem (from KEGG)
      Herpes simplex infection, organism-specific biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
    • Herpes simplex infection, conserved biosystem (from KEGG)
      Herpes simplex infection, conserved biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Influenza A, organism-specific biosystem (from KEGG)
      Influenza A, organism-specific biosystemInfluenza is a contagious respiratory disease caused by influenza virus infection. Influenza A virus is responsible for both annual seasonal epidemics and periodic worldwide pandemics. Novel strains ...
    • Influenza A, conserved biosystem (from KEGG)
      Influenza A, conserved biosystemInfluenza is a contagious respiratory disease caused by influenza virus infection. Influenza A virus is responsible for both annual seasonal epidemics and periodic worldwide pandemics. Novel strains ...
    • Interferon Signaling, organism-specific biosystem (from REACTOME)
      Interferon Signaling, organism-specific biosystemInterferons (IFNs) are cytokines that play a central role in initiating immune responses, especially antiviral and antitumor effects. There are three types of IFNs:Type I (IFN-alpha, -beta and others...
    • Interferon alpha/beta signaling, organism-specific biosystem (from REACTOME)
      Interferon alpha/beta signaling, organism-specific biosystemType I interferons (IFNs) are composed of various genes including IFN alpha (IFNA), beta (IFNB), omega, epsilon, and kappa. In humans the IFNA genes are composed of more than 13 subfamily genes, wher...
    • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
      NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
    • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
      NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
    • Senescence and Autophagy in Cancer, organism-specific biosystem (from WikiPathways)
      Senescence and Autophagy in Cancer, organism-specific biosystemSenescense and Autophagy Pathways in Cancer
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC104972, MGC133329, DKFZp781D08126

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoribonuclease activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    endoribonuclease activity TAS
    Traceable Author Statement
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    rRNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    ribonucleoprotein complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    RNA phosphodiester bond hydrolysis, endonucleolytic IEA
    Inferred from Electronic Annotation
    more info
     
    defense response to virus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    defense response to virus TAS
    Traceable Author Statement
    more info
     
    fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    mRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of viral genome replication IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of glucose import IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein phosphorylation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    rRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of mRNA stability IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of type I interferon-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    type I interferon signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cellular_component ND
    No biological Data available
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    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

    NCBI Reference Sequences (RefSeq)

    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_009024.2 RefSeqGene

      Range
      2715..18340
      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
      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: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      182573634..182589285 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001737359.1 RNA Sequence

    2. XR_001737360.1 RNA Sequence

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