Gene Gene information from NCBI Gene database.
Entrez ID 6041
Gene name Ribonuclease L
Gene symbol RNASEL
Synonyms (NCBI Gene)
PRCA1RNS4
Chromosome 1
Chromosome location 1q25.3
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 candida
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs486907 C>T Risk-factor Non coding transcript variant, coding sequence variant, missense variant
rs74315364 C>A Conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs74315365 C>T Pathogenic Missense variant, non coding transcript variant, initiator codon variant
rs146336238 G>A Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant, non coding transcript variant
rs147141911 C>A,T Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
293
miRTarBase ID miRNA Experiments Reference
MIRT000902 hsa-miR-15a-5p Microarray 18362358
MIRT000901 hsa-miR-16-5p Microarray 18362358
MIRT019056 hsa-miR-335-5p Microarray 18185580
MIRT024876 hsa-miR-215-5p Microarray 19074876
MIRT026865 hsa-miR-192-5p Microarray 19074876
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
BRCA1 Activation 15940267
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003723 Function RNA binding IBA
GO:0003723 Function RNA binding IDA 7514601
GO:0003723 Function RNA binding IEA
GO:0004518 Function Nuclease activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
180435 10050 ENSG00000135828
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q05823
Protein name 2-5A-dependent ribonuclease (2-5A-dependent RNase) (EC 3.1.26.-) (Ribonuclease 4) (Ribonuclease L) (RNase L)
Protein 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, inhibitio
PDB 1WDY , 4G8K , 4G8L , 4OAU , 4OAV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00023 Ank 58 89 Ankyrin repeat Repeat
PF00023 Ank 167 200 Ankyrin repeat Repeat
PF00069 Pkinase 368 524 Protein kinase domain Domain
PF06479 Ribonuc_2-5A 592 720 Ribonuclease 2-5A Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in spleen and thymus followed by prostate, testis, uterus, small intestine, colon and peripheral blood leukocytes.
Sequence
MESRDHNNPQEGPTSSSGRRAAVEDNHLLIKAVQNEDVDLVQQLLEGGANVNFQEEEGGW
TPLHNAVQMSREDIVELLLRHGADPVLRK
KNGATPFILAAIAGSVKLLKLFLSKGADVNE
CDFYGFTAFMEAAVYGKVKALKFLYKRGANVNLRRKTKEDQERLRKGGATALMDAAEKGH
VEVLKILLDEMGADVNACDN
MGRNALIHALLSSDDSDVEAITHLLLDHGADVNVRGERGK
TPLILAVEKKHLGLVQRLLEQEHIEINDTDSDGKTALLLAVELKLKKIAELLCKRGASTD
CGDLVMTARRNYDHSLVKVLLSHGAKEDFHPPAEDWKPQSSHWGAALKDLHRIYRPMIGK
LKFFIDEKYKIADTSEGGIYLGFYEKQEVAVKTFCEGSPRAQREVSCLQSSRENSHLVTF
YGSESHRGHLFVCVTLCEQTLEACLDVHRGEDVENEEDEFARNVLSSIFKAVQELHLSCG
YTHQDLQPQNILIDSKKAAHLADFDKSIKWAGDPQEVKRDLEDL
GRLVLYVVKKGSISFE
DLKAQSNEEVVQLSPDEETKDLIHRLFHPGEHVRDCLSDLLGHPFFWTWESRYRTLRNVG
NESDIKTRKSESEILRLLQPGPSEHSKSFDKWTTKINECVMKKMNKFYEKRGNFYQNTVG
DLLKFIRNLGEHIDEEKHKKMKLKIGDPSLYFQKTFPDLVIYVYTKLQNTEYRKHFPQTH

SPNKPQCDGAGGASGLASPGC
Sequence length 741
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  NOD-like receptor signaling pathway
Hepatitis C
Influenza A
Herpes simplex virus 1 infection
  OAS antiviral response
Interferon alpha/beta signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
94
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ovarian cancer Likely pathogenic rs2102370520, rs557182938 RCV003154749
RCV003154786
Prostate cancer, hereditary, 1 Pathogenic rs74315365 RCV000013879
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Chronic lymphocytic leukemia/small lymphocytic lymphoma Uncertain significance rs760148408 RCV005871355
Hereditary cancer Likely benign rs486907 RCV003492293
Prostate cancer Conflicting classifications of pathogenicity rs74315364 RCV000991158
Prostate cancer susceptibility Likely benign rs486907 RCV004794338
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 17263642
Acute Retroviral Syndrome Associate 19567509
Adenocarcinoma of Lung Associate 28362255
Aicardi Goutieres syndrome Associate 32958664
Breast Neoplasms Associate 18575592, 25070080, 29422015
Calcinosis Cutis Associate 12915880
Calculi Associate 18676870
Carcinoma Hepatocellular Associate 28704535
Carcinoma Squamous Cell Associate 24699816
Cerebral Infarction Associate 39290696