RNASEL ribonuclease L [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Carriage of mutations R462Q (rs 486907) and D541E (rs 627928) of the RNASEL gene and risk factors in patients with prostate cancer in Burkina Faso.
Title: Carriage of mutations R462Q (rs 486907) and D541E (rs 627928) of the RNASEL gene and risk factors in patients with prostate cancer in Burkina Faso.
OAS1/RNase L executes RIG-I ligand-dependent tumor cell apoptosis.
Title: OAS1/RNase L executes RIG-I ligand-dependent tumor cell apoptosis.
Zika virus employs the host antiviral RNase L protein to support replication factory assembly.
Title: Zika virus employs the host antiviral RNase L protein to support replication factory assembly.
ABCE1 Regulates RNase L-Induced Autophagy during Viral Infections.
Title: ABCE1 Regulates RNase L-Induced Autophagy during Viral Infections.
Sunitinib inhibits RNase L by destabilizing its active dimer conformation.
Title: Sunitinib inhibits RNase L by destabilizing its active dimer conformation.
RNase L promotes the formation of unique ribonucleoprotein granules distinct from stress granules.
Title: RNase L promotes the formation of unique ribonucleoprotein granules distinct from stress granules.
Our data show that rs486907 was not associated with the risk of prostate cancer in any populations. Nevertheless, rs627928 was reported to promote the development of prostate cancer (T vs. G: OR=1.08, 95% CI=1.01-1.15; TT+TG vs. GG: OR=1.14, 95% CI=1.03-1.25) in allele and recessive models in overall populations.
Title: Evidence from 40 Studies that 2 Common Single-Nucleotide Polymorphisms (SNPs) of RNASEL Gene Affect Prostate Cancer Susceptibility: A Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA)-Compliant Meta-Analysis.
The dependence on expression of ZAP antiviral protein (ZAP), 2'-5'-oligoadenylate synthetase (OAS3) and 2-5A-dependent ribonuclease (RNAseL) for CpG/UpA-mediated attenuation and the variable and often low level expression of these pathway proteins in certain cell types.
Title: The role of ZAP and OAS3/RNAseL pathways in the attenuation of an RNA virus with elevated frequencies of CpG and UpA dinucleotides.
Mitochondrial C11orf83 is a potent antiviral protein independent of interferon production; and knockdown of either OAS3 or RNase L impaired the antiviral capability of C11orf83.
Title: Mitochondrial C11orf83 is a potent Antiviral Protein Independent of interferon production.
Our study suggests that RNASEL:p.Glu265* may be a genetic modifier of risk for early-onset breast cancer predisposition in carriers of high-risk mutations.
Title: Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?

Submit: New GeneRIF Correction See all GeneRIFs (115)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Prostate cancer, hereditary, 1 MedGen: C4722327 OMIM: 601518 GeneReviews: Not available	not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-76018 (e-PCR)
- UniSTS:74632

SHGC-54540 (e-PCR)
- UniSTS:28574

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

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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

EC 3.1.26.-

EC 3.1.27.-

XP_047283052.1

EC 3.1.26.-

EC 3.1.27.-

XP_047283062.1

EC 3.1.26.-

EC 3.1.27.-

XP_054194043.1

EC 3.1.26.-

EC 3.1.27.-

XP_054194044.1

EC 3.1.26.-

EC 3.1.27.-

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.

Genomic

NG_009024.3 RefSeqGene

Range

5000..20622

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_021133.4 → NP_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:590 → 708

RNase_RNase-L; RNase domain (also known as the kinase extension nuclease domain) of RNase L

cd00204
Location:59 → 188

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:387 → 586

Pkinase; Protein kinase domain

pfam12796
Location:29 → 122

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:59 → 89

ANK; ANK repeat [structural motif]

cl21453
Location:375 → 587

PKc_like; Protein Kinases, catalytic domain