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Aliases for RNASEL Gene

Aliases for RNASEL Gene

  • Ribonuclease L 2 3 4 5
  • 2-5A-Dependent RNase 3 4
  • Ribonuclease 4 3 4
  • RNase L 3 4
  • RNS4 3 4
  • Ribonuclease L (2,5-Oligoisoadenylate Synthetase-Dependent) 2
  • 2,5-Oligoisoadenylate Synthetase-Dependent 3
  • Interferon-Induced 2-5A-Dependent RNase 3
  • 2-5A-Dependent Ribonuclease 3
  • Prostate Cancer 1 2
  • EC 3.1.26.- 4
  • PRCA1 3

External Ids for RNASEL Gene

Previous HGNC Symbols for RNASEL Gene

  • RNS4
  • PRCA1

Previous GeneCards Identifiers for RNASEL Gene

  • GC01M180070
  • GC01M177972
  • GC01M179063
  • GC01M179782
  • GC01M179274
  • GC01M180809
  • GC01M153780

Summaries for RNASEL Gene

Entrez Gene Summary for RNASEL Gene

  • 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]

GeneCards Summary for RNASEL Gene

RNASEL (Ribonuclease L) is a Protein Coding gene. Diseases associated with RNASEL include Prostate Cancer 1 and Prostate Cancer. Among its related pathways are Hepatitis C and Influenza A. GO annotations related to this gene include RNA binding and protein kinase activity. An important paralog of this gene is TANC2.

UniProtKB/Swiss-Prot for RNASEL Gene

  • Endoribonuclease that functions in the interferon (IFN) antiviral response. In INF treated and virus infected cells, RNASEL probably mediates its antiviral effects through a combination of direct cleavage of single-stranded viral RNAs, inhibition of protein synthesis through the degradation of rRNA, induction of apoptosis, and induction of other antiviral genes. RNASEL mediated apoptosis is the result of a JNK-dependent stress-response pathway leading to cytochrome c release from mitochondria and caspase-dependent apoptosis. Therefore, activation of RNASEL could lead to elimination of virus infected cells under some circumstances. In the crosstalk between autophagy and apoptosis proposed to induce autophagy as an early stress response to small double-stranded RNA and at later stages of prolonged stress to activate caspase-dependent proteolytic cleavage of BECN1 to terminate autophagy and promote apoptosis (PubMed:26263979). Might play a central role in the regulation of mRNA turnover (PubMed:11585831). Cleaves 3 of UpNp dimers, with preference for UU and UA sequences, to sets of discrete products ranging from between 4 and 22 nucleotides in length.

Gene Wiki entry for RNASEL Gene

Additional gene information for RNASEL Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNASEL Gene

Genomics for RNASEL Gene

Regulatory Elements for RNASEL Gene

Enhancers for RNASEL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H182600 1.6 Ensembl ENCODE dbSUPER 23.1 -13.7 -13696 4 HDGF PKNOX1 SIN3A FEZF1 ZNF2 YY1 ZNF143 SP3 REST SMARCB1 DHX9 RNASEL LAMC1-AS1 HMGN1P4 LINC01688 TEDDM2P RPL18P2 KRT18P28 LOC100271717 RNA5SP71
GH01H182587 1.2 ENCODE dbSUPER 28.3 +0.5 507 2 HDGF PKNOX1 ATF1 ARNT SIN3A ZNF2 YY1 ZNF766 ATF7 RUNX3 RNASEL NPL DHX9 ENSG00000276839
GH01H182388 1.4 ENCODE dbSUPER 19.6 +198.4 198446 5 HDGF FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CBX5 DHX9 HMGN1P4 LAMC1-AS1 RNASEL TEDDM2P RPL18P2 ENSG00000232309 LINC01688 RNA5SP71 KRT18P28
GH01H183469 1.5 ENCODE dbSUPER 10.4 -882.5 -882524 4 MLX FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 SP3 NFYC ZC3H11A DHX9 LAMC1-AS1 HMGN1P4 SMG7 LAMC1 SMG7-AS1 ENSG00000227554 KRT18P28 LOC100271717 RNA5SP71
GH01H182084 1.3 Ensembl ENCODE dbSUPER 10.4 +504.3 504278 1 ATF1 FOXA2 RB1 TBL1XR1 ARID4B RAD21 GLIS2 SCRT2 ZNF143 RCOR1 DHX9 HMGN1P4 TEDDM1 GLUL RNASEL RGSL1 NPL ENSG00000225982 ENSG00000224810
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RNASEL on UCSC Golden Path with GeneCards custom track

Promoters for RNASEL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000016731 385 1001 HDGF PKNOX1 ATF1 ARNT SIN3A ZNF2 YY1 ZNF766 ATF7 RUNX3

Genomic Location for RNASEL Gene

Chromosome:
1
Start:
182,573,634 bp from pter
End:
182,589,285 bp from pter
Size:
15,652 bases
Orientation:
Minus strand

Genomic View for RNASEL Gene

Genes around RNASEL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNASEL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNASEL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNASEL Gene

Proteins for RNASEL Gene

  • Protein details for RNASEL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q05823-RN5A_HUMAN
    Recommended name:
    2-5A-dependent ribonuclease
    Protein Accession:
    Q05823
    Secondary Accessions:
    • Q5W0L2
    • Q6AI46

    Protein attributes for RNASEL Gene

    Size:
    741 amino acids
    Molecular mass:
    83533 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Monomer (inactive form) or homodimer. Interacts with ABCE1; this interaction inhibits the RNASEL.

    Three dimensional structures from OCA and Proteopedia for RNASEL Gene

    Alternative splice isoforms for RNASEL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RNASEL Gene

Post-translational modifications for RNASEL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RNASEL Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RNASEL (RNASEL)
  • Abcam antibodies for RNASEL

No data available for DME Specific Peptides for RNASEL Gene

Domains & Families for RNASEL Gene

Gene Families for RNASEL Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q05823

UniProtKB/Swiss-Prot:

RN5A_HUMAN :
  • The nine ankyrin repeats also called 2-5A sensor constitute the N-terminus 2-5A binding domain.
  • Belongs to the protein kinase superfamily.
Domain:
  • The nine ankyrin repeats also called 2-5A sensor constitute the N-terminus 2-5A binding domain.
  • The protein kinase domain is predicted to be catalytically inactive. It allows the homodimerization.
  • The ribonuclease domain is located in the C-terminus. A single active nuclease domain in a dimer is sufficient for ribonuclease activity (By similarity).
Family:
  • Belongs to the protein kinase superfamily.
genes like me logo Genes that share domains with RNASEL: view

Function for RNASEL Gene

Molecular function for RNASEL Gene

GENATLAS Biochemistry:
ribonuclease L,2,5-oligoisoadenylate dependent,interferon regulated pathway
UniProtKB/Swiss-Prot EnzymeRegulation:
After binding to 2-5A (5-phosphorylated 2,5-linked oligoadenylates) the homodimerization and subsequent activation occurs. Inhibited by RNASEL inhibitor ABCE1/RLI, a cytoplasmic member of the ATP-binding cassette (ABC) transporter family.
UniProtKB/Swiss-Prot Function:
Endoribonuclease that functions in the interferon (IFN) antiviral response. In INF treated and virus infected cells, RNASEL probably mediates its antiviral effects through a combination of direct cleavage of single-stranded viral RNAs, inhibition of protein synthesis through the degradation of rRNA, induction of apoptosis, and induction of other antiviral genes. RNASEL mediated apoptosis is the result of a JNK-dependent stress-response pathway leading to cytochrome c release from mitochondria and caspase-dependent apoptosis. Therefore, activation of RNASEL could lead to elimination of virus infected cells under some circumstances. In the crosstalk between autophagy and apoptosis proposed to induce autophagy as an early stress response to small double-stranded RNA and at later stages of prolonged stress to activate caspase-dependent proteolytic cleavage of BECN1 to terminate autophagy and promote apoptosis (PubMed:26263979). Might play a central role in the regulation of mRNA turnover (PubMed:11585831). Cleaves 3 of UpNp dimers, with preference for UU and UA sequences, to sets of discrete products ranging from between 4 and 22 nucleotides in length.
UniProtKB/Swiss-Prot Induction:
By interferons. Virus replication in higher vertebrates is restrained by IFNs that cause cells to transcribe genes encoding antiviral proteins, such as 2-5 oligoadenylate synthetases (OASs). oligoadenylate synthetase is stimulated by dsRNA to produce 5-phosphorylated, 2-5-linked oligoadenylates (2-5A), whose function is to activate RNASEL.

Enzyme Numbers (IUBMB) for RNASEL Gene

Phenotypes From GWAS Catalog for RNASEL Gene

Gene Ontology (GO) - Molecular Function for RNASEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA,IEA 7514601
GO:0004518 nuclease activity IEA --
GO:0004519 endonuclease activity IEA --
GO:0004521 endoribonuclease activity NAS 7514601
GO:0004540 ribonuclease activity IEA --
genes like me logo Genes that share ontologies with RNASEL: view
genes like me logo Genes that share phenotypes with RNASEL: view

Human Phenotype Ontology for RNASEL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RNASEL Gene

MGI Knock Outs for RNASEL:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RNASEL
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Transcription Factor Targets and HOMER Transcription for RNASEL Gene

Localization for RNASEL Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNASEL Gene

Cytoplasm. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RNASEL gene
Compartment Confidence
mitochondrion 5
cytosol 5
nucleus 4
endoplasmic reticulum 2
plasma membrane 1
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RNASEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RNASEL: view

Pathways & Interactions for RNASEL Gene

genes like me logo Genes that share pathways with RNASEL: view

Pathways by source for RNASEL Gene

Gene Ontology (GO) - Biological Process for RNASEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006364 rRNA processing IEA --
GO:0006397 mRNA processing IEA --
GO:0006468 protein phosphorylation NAS 7514601
GO:0043488 regulation of mRNA stability IEA --
GO:0045071 negative regulation of viral genome replication IDA 19923450
genes like me logo Genes that share ontologies with RNASEL: view

No data available for SIGNOR curated interactions for RNASEL Gene

Drugs & Compounds for RNASEL Gene

(11) Drugs for RNASEL Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 35
Magnesium Nutra 0

(14) Additional Compounds for RNASEL Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RNASEL: view

Transcripts for RNASEL Gene

mRNA/cDNA for RNASEL Gene

Unigene Clusters for RNASEL Gene

Ribonuclease L (2,5-oligoisoadenylate synthetase-dependent):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RNASEL
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for RNASEL Gene

No ASD Table

Relevant External Links for RNASEL Gene

GeneLoc Exon Structure for
RNASEL
ECgene alternative splicing isoforms for
RNASEL

Expression for RNASEL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RNASEL Gene

mRNA differential expression in normal tissues according to GTEx for RNASEL Gene

This gene is overexpressed in Whole Blood (x4.9).

Protein differential expression in normal tissues from HIPED for RNASEL Gene

This gene is overexpressed in Peripheral blood mononuclear cells (31.5) and Cervix (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RNASEL Gene



Protein tissue co-expression partners for RNASEL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RNASEL Gene:

RNASEL

SOURCE GeneReport for Unigene cluster for RNASEL Gene:

Hs.518545

mRNA Expression by UniProt/SwissProt for RNASEL Gene:

Q05823-RN5A_HUMAN
Tissue specificity: Highly expressed in spleen and thymus followed by prostate, testis, uterus, small intestine, colon and peripheral blood leukocytes.

Evidence on tissue expression from TISSUES for RNASEL Gene

  • Kidney(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RNASEL Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • reproductive
Organs:
Head and neck:
  • brain
  • cerebellum
  • head
Pelvis:
  • prostate
General:
  • spinal cord
genes like me logo Genes that share expression patterns with RNASEL: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for RNASEL Gene

Orthologs for RNASEL Gene

This gene was present in the common ancestor of chordates.

Orthologs for RNASEL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNASEL 33 34
  • 98.74 (n)
dog
(Canis familiaris)
Mammalia RNASEL 33 34
  • 80.45 (n)
cow
(Bos Taurus)
Mammalia RNASEL 33 34
  • 80.09 (n)
mouse
(Mus musculus)
Mammalia Rnasel 33 16 34
  • 72.93 (n)
rat
(Rattus norvegicus)
Mammalia Rnasel 33
  • 72.82 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RNASEL 34
  • 56 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RNASEL 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves RNASEL 33 34
  • 55 (n)
lizard
(Anolis carolinensis)
Reptilia RNASEL 34
  • 44 (a)
OneToOne
Species where no ortholog for RNASEL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for RNASEL Gene

ENSEMBL:
Gene Tree for RNASEL (if available)
TreeFam:
Gene Tree for RNASEL (if available)

Paralogs for RNASEL Gene

(1) SIMAP similar genes for RNASEL Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with RNASEL: view

Variants for RNASEL Gene

Sequence variations from dbSNP and Humsavar for RNASEL Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs74315364 Pathogenic 182,586,014(-) ACATA(G/T)AGATT nc-transcript-variant, reference, stop-gained
rs74315365 Pathogenic 182,586,804(-) GTCAT(A/G)GAGAG nc-transcript-variant, reference, missense
rs486907 other 182,585,422(-) TGCCC(A/G)AAATG nc-transcript-variant, reference, missense
rs1000067288 -- 182,589,895(+) TGACT(A/G)TCTTC upstream-variant-2KB
rs1000125889 -- 182,574,262(+) GCCAT(C/T)GCCCG nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for RNASEL Gene

Variant ID Type Subtype PubMed ID
esv1010175 CNV deletion 20482838
esv3588104 CNV loss 21293372
nsv548358 CNV gain 21841781
nsv825531 CNV loss 20364138
nsv825564 CNV loss 20364138

Variation tolerance for RNASEL Gene

Residual Variation Intolerance Score: 60% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.78; 86.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RNASEL Gene

Human Gene Mutation Database (HGMD)
RNASEL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNASEL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNASEL Gene

Disorders for RNASEL Gene

MalaCards: The human disease database

(8) MalaCards diseases for RNASEL Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
prostate cancer 1
  • prostate cancer, hereditary, 1
prostate cancer
  • prostate cancer, hereditary, 5
chronic fatigue syndrome
  • cfs
microphthalmia with limb anomalies
  • anophthalmia-syndactyly syndrome
prostate cancer susceptibility
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RN5A_HUMAN
  • Prostate cancer, hereditary, 1 (HPC1) [MIM:601518]: A condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. {ECO:0000305 PubMed:11799394, ECO:0000305 PubMed:11941539, ECO:0000305 PubMed:12415269, ECO:0000305 PubMed:17344846}.

Relevant External Links for RNASEL

Genetic Association Database (GAD)
RNASEL
Human Genome Epidemiology (HuGE) Navigator
RNASEL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RNASEL
genes like me logo Genes that share disorders with RNASEL: view

No data available for Genatlas for RNASEL Gene

Publications for RNASEL Gene

  1. Germline alterations of the RNASEL gene, a candidate HPC1 gene at 1q25, in patients and families with prostate cancer. (PMID: 11941539) Rökman A … Schleutker J (American journal of human genetics 2002) 3 4 22 45 60
  2. Single and multivariate associations of MSR1, ELAC2, and RNASEL with prostate cancer in an ethnic diverse cohort of men. (PMID: 20086112) Beuten J … Leach RJ (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 22 45 60
  3. RNASEL and RNASEL-inhibitor variation and prostate cancer risk in Afro-Caribbeans. (PMID: 18189233) Shea PR … Ferrell RE (The Prostate 2008) 3 22 45 60
  4. Association of HPC2/ELAC2 and RNASEL non-synonymous variants with prostate cancer risk in African American familial and sporadic cases. (PMID: 18767027) Robbins CM … Kittles RA (The Prostate 2008) 3 22 45 60
  5. Germline mutation in RNASEL predicts increased risk of head and neck, uterine cervix and breast cancer. (PMID: 18575592) Madsen BE … Hansen LL (PloS one 2008) 3 22 45 60

Products for RNASEL Gene

Sources for RNASEL Gene

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