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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] See more...
Aliases for RNASEL Gene
Aliases for RNASEL Gene
External Ids for RNASEL Gene
- HGNC: 10050
- Entrez Gene: 6041
- Ensembl: ENSG00000135828
- OMIM: 180435
- UniProtKB: Q05823
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
-
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, Hereditary, 1 and Chronic Fatigue Syndrome. Among its related pathways are Interferon gamma signaling and Innate Immune System. Gene Ontology (GO) annotations related to this gene include RNA binding and protein kinase activity.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for RNASEL Gene
- HGNC(10050)
- Entrez Gene(6041)
- Ensembl(ENSG00000135828)
- OMIM(180435)
- UniProtKB(Q05823)
- Open Targets Platform(ENSG00000135828)
- Monarch Initiative
- Search for RNASEL at DataMed
- Search for RNASEL at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RNASEL Gene
Genomics for RNASEL Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for RNASEL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around RNASEL on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RNASEL
- Top Transcription factor binding sites by QIAGEN in the RNASEL gene promoter:
-
- AhR
- AP-1
- AP-4
- Arnt
- ATF-2
- c-Jun
- ER-alpha
- GATA-3
- HNF-4alpha1
Genomic Locations for RNASEL Gene
Genomic Locations for RNASEL Gene
- chr1:182,573,634-182,589,285
- (GRCh38/hg38)
- Size:
- 15,652 bases
- Orientation:
- Minus strand
- chr1:182,542,769-182,558,394
- (GRCh37/hg19)
- Size:
- 15,626 bases
- Orientation:
- Minus strand
Genomic View for RNASEL Gene
Genes around RNASEL on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q25.3 by HGNC
- 1q25.3 by Entrez Gene
- 1q25.3 by Ensembl
RNASEL Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- Q5W0L2
- Q6AI46
Protein attributes for RNASEL Gene
- Size:
- 741 amino acids
- Molecular mass:
- 83533 Da
- Cofactor:
- Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
- Cofactor:
- 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
Protein Expression for RNASEL Gene
Post-translational modifications for RNASEL Gene
Other Protein References for RNASEL Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences RNASEL / RNase L Monoclonal Antibody
-
Custom Antibody ServicesOriGene Antibodies for RNASEL
- Novus Biologicals Antibodies for RNASEL
-
Abcam antibodies for RNASEL
- Invitrogen Antibodies for RNASEL (AFLGC-RNASEL)
-
Biorbyt antibodies for RNASEL
-
Boster Bio Antibodies for RNASEL
-
Santa Cruz Biotechnology (SCBT) Antibodies for RNASEL
Protein Products
-
OriGene Purified Proteins for RNASEL
- Search Origene for MassSpec and Protein Over-expression Lysates for RNASEL
- Origene Custom Protein Services for RNASEL
- Novus Biologicals proteins for RNASEL
-
Signalway Proteins for RNASEL
Assay Products
- antibodies-online: Show 6 available RNASEL Elisa Kits ranked by validation data
- Compare Top RNASEL Elisa Kits
-
Quality Products:
-
Signalway ELISA kits 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
Protein Domains for RNASEL Gene
- InterPro:
- Blocks:
-
- PUG
- Ribonuclease 2-5A
- ProtoNet:
Suggested Antigen Peptide Sequences for RNASEL Gene
- GenScript: Design optimal peptide antigens:
-
- Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (Q1RLL8_HUMAN)
- Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (Q5W0L2_HUMAN)
- Ribonuclease L (RN5A_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q05823UniProtKB/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.
Function for RNASEL Gene
Molecular function for RNASEL Gene
- 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.
- 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.
- GENATLAS Biochemistry:
- ribonuclease L,2',5'-oligoisoadenylate dependent,interferon regulated pathway
Enzyme Numbers (IUBMB) for RNASEL Gene
Phenotypes From GWAS Catalog for RNASEL Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0003723 | RNA binding | IEA,IDA | 7514601 |
| GO:0004518 | nuclease activity | IEA | -- |
| GO:0004519 | endonuclease activity | IEA | -- |
| GO:0004521 | endoribonuclease activity | NAS | 7514601 |
Phenotypes for RNASEL Gene
- MGI mutant phenotypes for RNASEL:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for RNASEL:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Increased cell death HMECs cells
- Decreased viability in glioblastoma multiforme (GBM) lineage
- Decreased HIV-LTR-beta-galactosidase protein expression
- Decreased substrate adherent cell growth
- Synthetic lethal with gemcitabine
- Decreased viability in Von Hippel-Lindau (VHL) (-/-) cell line
Animal Models for RNASEL Gene
- MGI Knock Outs for RNASEL:
-
- Rnasel Rnasel<tm1Slvm>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RNASEL - Select products 50% OFF >
- * RNASEL CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RNASEL
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RNASEL
-
Santa Cruz Biotechnology (SCBT) CRISPR for RNASEL
miRNA for RNASEL Gene
- miRTarBase miRNAs that target RNASEL
-
- hsa-miR-16-5p (MIRT000901)
- hsa-miR-15a-5p (MIRT000902)
- hsa-miR-335-5p (MIRT019056)
- hsa-miR-215-5p (MIRT024876)
- hsa-miR-192-5p (MIRT026865)
- hsa-miR-29a-3p (MIRT438434)
- hsa-miR-4776-3p (MIRT441865)
- hsa-miR-8070 (MIRT441866)
- hsa-miR-192-3p (MIRT441867)
- hsa-miR-4480 (MIRT441868)
- hsa-miR-409-3p (MIRT441869)
- mmu-miR-466f-3p (MIRT577820)
- mmu-miR-329-3p (MIRT577821)
- mmu-miR-362-3p (MIRT577822)
- mmu-miR-466i-3p (MIRT577823)
- mmu-miR-466o-3p (MIRT577824)
- mmu-miR-466m-3p (MIRT577825)
- mmu-miR-466n-3p (MIRT577826)
- mmu-miR-574-5p (MIRT591020)
- mmu-miR-466l-5p (MIRT591021)
- mmu-miR-466k (MIRT591022)
- mmu-miR-466i-5p (MIRT591023)
- mmu-miR-466d-5p (MIRT591024)
- hsa-miR-1250-3p (MIRT736486)
- hsa-miR-153-5p (MIRT737888)
- hsa-miR-3919 (MIRT742957)
- hsa-miR-3925-5p (MIRT743007)
- hsa-miR-4756-3p (MIRT748392)
- hsa-miR-520d-5p (MIRT750232)
- hsa-miR-524-5p (MIRT750287)
- hsa-miR-5696 (MIRT751257)
- hsa-miR-579-3p (MIRT751500)
- hsa-miR-589-5p (MIRT751572)
- hsa-miR-664b-3p (MIRT753611)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RNASEL
- Browse OriGene Inhibitory RNA Products For RNASEL
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNASEL
Clone Products
- Applied Biological Materials (abm): Clones for RNASEL - Select products 50% OFF >
- * RNASEL as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for RNASEL
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RNASEL
Cell Line Products
-
Horizon Cell Lines for RNASEL
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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| cytosol | 5 |
| nucleus | 4 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| lysosome | 2 |
| peroxisome | 1 |
| golgi apparatus | 1 |
- Cytosol (3)
| 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 | -- |
Pathways & Interactions for RNASEL Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | NF-kappaB Signaling | ||
| 2 | Toll-like Receptor Signaling Pathway |
.34
|
|
| 3 | Herpes simplex virus 1 infection | ||
| 4 | Measles |
.33
|
|
| 5 | NOD-like receptor signaling pathway | ||
Pathways by source for RNASEL Gene
1 BioSystems pathway for RNASEL Gene
6 Reactome pathways for RNASEL Gene
4 KEGG pathways for RNASEL Gene
1 Cell Signaling Technology pathway for RNASEL Gene
Interacting Proteins for RNASEL Gene
Selected Interacting proteins:
Q05823-RN5A_HUMAN
ENSP00000356530
for RNASEL Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for RNASEL
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006364 | rRNA processing | IEA | -- |
| GO:0006396 | RNA processing | IBA | 21873635 |
| GO:0006397 | mRNA processing | IEA | -- |
| GO:0006468 | protein phosphorylation | NAS | 7514601 |
| GO:0043488 | regulation of mRNA stability | IEA | -- |
Transcripts for RNASEL Gene
mRNA/cDNA for RNASEL Gene
- 1 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000367559 4238 nts (view in UCSC)
- ENST00000539397 4046 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RNASEL - Select products 50% OFF >
- * RNASEL CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RNASEL
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RNASEL
-
Santa Cruz Biotechnology (SCBT) CRISPR for RNASEL
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RNASEL
- Browse OriGene Inhibitory RNA Products For RNASEL
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNASEL
Clone Products
- Applied Biological Materials (abm): Clones for RNASEL - Select products 50% OFF >
- * RNASEL as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for RNASEL
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RNASEL
Relevant External Links for RNASEL Gene
- GeneLoc Exon Structure for
- RNASEL
Expression for RNASEL Gene
mRNA differential expression in normal tissues according to GTEx for RNASEL Gene
This gene is overexpressed in Whole Blood (x4.9).
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, MaxQB, and MOPED for RNASEL Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RNASEL
SOURCE GeneReport for Unigene cluster for RNASEL Gene:
Hs.518545mRNA 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(4.5)
- Blood(2.7)
- Spleen(2.7)
- Lymph node(2.5)
- Lung(2.4)
- Liver(2.3)
- Intestine(2.3)
- Nervous system(2.3)
- Skin(2.2)
- Heart(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for RNASEL Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- reproductive
Regions:
Head and neck:
- brain
- cerebellum
- head
Pelvis:
- prostate
General:
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for RNASEL
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | RNASEL 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | RNASEL 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | RNASEL 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Rnasel 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Rnasel 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | RNASEL 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | RNASEL 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | RNASEL 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | RNASEL 31 |
|
OneToOne |
- Species where no ortholog for RNASEL was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for RNASEL: view image
Paralogs for RNASEL Gene
(1) SIMAP similar genes for RNASEL Gene using alignment to 2 proteins:
- RN5A_HUMAN
- Q1RLL8_HUMAN
No data available for Paralogs for RNASEL Gene
Variants for RNASEL Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RNASEL Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 716675 | Conflicting Interpretations: not provided | 182,586,453(-) | G/A | SYNONYMOUS_VARIANT | |
| 720340 | Benign: not provided | 182,585,565(-) | G/A | SYNONYMOUS_VARIANT | |
| 774801 | Conflicting Interpretations: not provided | 182,585,628(-) | C/T | SYNONYMOUS_VARIANT | |
| 774802 | Likely Benign: not provided | 182,586,632(-) | C/T | MISSENSE_VARIANT | |
| 775629 | Benign: not provided | 182,586,468(-) | A/G | SYNONYMOUS_VARIANT |
| 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 |
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)
Additional Variant Information for RNASEL Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNASEL Gene
Disorders for RNASEL Gene
(18) MalaCards diseases for RNASEL Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| prostate cancer, hereditary, 1 |
|
|
| chronic fatigue syndrome |
|
|
| prostate cancer |
|
|
| microphthalmia with limb anomalies |
|
|
| vaccinia |
|
|
Search RNASEL in MalaCards
View complete list of genes associated with diseases
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. {ECO:0000305 PubMed:11799394, ECO:0000305 PubMed:11941539, ECO:0000305 PubMed:12415269, ECO:0000305 PubMed:17344846}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Additional Disease Information for RNASEL
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for RNASEL Gene
Publications for RNASEL Gene
- 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 23 41
- 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 23 41
- Association of IL10 and other immune response- and obesity-related genes with prostate cancer in CLUE II. (PMID: 19267370) Wang MH … Platz EA (The Prostate 2009) 3 23 41
- Association of common polymorphisms in IL10, and in other genes related to inflammatory response and obesity with colorectal cancer. (PMID: 19760027) Tsilidis KK … Platz EA (Cancer causes & control : CCC 2009) 3 23 41
- Analysis of the RNASEL/HPC1, and macrophage scavenger receptor 1 in Asian-Indian advanced prostate cancer. (PMID: 18436282) Rennert H … Rebbeck TR (Urology 2008) 3 23 41
ExternalLinks
Products for RNASEL Gene
- Custom Antibody ServicesOriGene Antibodies for RNASEL
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for RNASEL
- Search Origene for MassSpec and Protein Over-expression Lysates for RNASEL
- Origene Custom Protein Services for RNASEL
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RNASEL
- Browse OriGene Inhibitory RNA Products For RNASEL
- OriGene qPCR primer pairs for RNASEL
- OriGene CRISPR knockouts for RNASEL
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For RNASEL
- Sino Biological Human cDNA Clone for RNASEL
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for RNASEL
- Novus Biologicals proteins for RNASEL
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- Browse Peptides and Proteins
- Browse Lysates
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- Abcam antibodies for RNASEL
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- Browse Primary Antibodies
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- Invitrogen Antibodies for RNASEL (AFLGC-RNASEL)
- VectorBuilder Custom and pre-made DNA vectors for RNASEL (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for RNASEL (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for RNASEL (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for RNASEL CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for RNASEL
- antibodies-online: Show 17 available RNASEL Antibodies ranked by validation data
- Compare Top RNASEL Antibodies
- antibodies-online: Show 6 available RNASEL Elisa Kits ranked by validation data
- Compare Top RNASEL Elisa Kits
- Quality Products:
- antibodies-online: Show 10 available RNASEL Proteins ranked by validation data
- Compare Top RNASEL Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for RNASEL
- Search Santa Cruz Biotechnology (SCBT) for RNASEL siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for RNASEL
- Horizon Cell Lines for RNASEL
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RNASEL
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RNASEL
- Search GeneCopoeia for miRNA 3'UTR Target clone products for RNASEL
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNASEL
- Boster Bio Antibodies for RNASEL
- Browse Boster Bio ELISA Kits
- Biorbyt antibodies for RNASEL
Sources for RNASEL Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB