RNASEL (ribonuclease L) - Rat Genome Database

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Gene: RNASEL (ribonuclease L) Homo sapiens
Analyze
Symbol: RNASEL
Name: ribonuclease L
RGD ID: 1346643
HGNC Page HGNC:10050
Description: Enables RNA binding activity; identical protein binding activity; and ribonuclease activity. Involved in defense response to virus; negative regulation of viral genome replication; and positive regulation of transcription by RNA polymerase II. Predicted to be located in cytosol and mitochondrial matrix. Implicated in Lynch syndrome and prostate cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 2',5'-oligoisoadenylate synthetase-dependent; 2-5A-dependent ribonuclease; 2-5A-dependent RNase; DKFZp781D08126; hereditary prostate cancer 1; HPC1; interferon-induced 2-5A-dependent RNase; MGC104972; MGC133329; PRCA1; prostate cancer 1; ribonuclease 4; ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent); RNase L; RNS4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Candidate Gene For: PRSTS277_H PRSTS427_H PRSTS426_H PRSTS428_H PRSTS417_H PRSTS418_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381182,573,634 - 182,589,256 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1182,573,634 - 182,589,256 (-)EnsemblGRCh38hg38GRCh38
GRCh371182,542,769 - 182,558,391 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361180,809,395 - 180,822,731 (-)NCBINCBI36Build 36hg18NCBI36
Build 341179,274,428 - 179,287,765NCBI
Celera1155,654,005 - 155,667,341 (-)NCBICelera
Cytogenetic Map1q25.3NCBI
HuRef1153,779,235 - 153,794,860 (-)NCBIHuRef
CHM1_11183,966,207 - 183,981,832 (-)NCBICHM1_1
T2T-CHM13v2.01181,933,110 - 181,948,734 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Dichotomy between survival and lytic gene expression in RNase L- and PKR-deficient mice transduced with an adenoviral vector expressing murine IFN-beta following ocular HSV-1 infection. Al-Khatib K, etal., Exp Eye Res. 2005 Feb;80(2):167-73. doi: 10.1016/j.exer.2004.08.026.
2. RNASEL Arg462Gln variant is implicated in up to 13% of prostate cancer cases. Casey G, etal., Nat Genet. 2002 Dec;32(4):581-3. Epub 2002 Nov 4.
3. Mutations in ribonuclease L gene do not occur at a greater frequency in patients with familial prostate cancer compared with patients with sporadic prostate cancer. Downing SR, etal., Clin Prostate Cancer. 2003 Dec;2(3):177-80.
4. Herpes simplex virus type 2-mediated disease is reduced in mice lacking RNase L. Duerst RJ and Morrison LA, Virology. 2007 Apr 10;360(2):322-8. doi: 10.1016/j.virol.2006.10.042. Epub 2006 Dec 6.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. Lineage A Betacoronavirus NS2 Proteins and the Homologous Torovirus Berne pp1a Carboxy-Terminal Domain Are Phosphodiesterases That Antagonize Activation of RNase L. Goldstein SA, etal., J Virol. 2017 Feb 14;91(5). pii: JVI.02201-16. doi: 10.1128/JVI.02201-16. Print 2017 Mar 1.
7. Interferon-regulated pathways that control hepatitis B virus replication in transgenic mice. Guidotti LG, etal., J Virol. 2002 Mar;76(6):2617-21. doi: 10.1128/jvi.76.6.2617-2621.2002.
8. Inhibition of RNase L and RNA-dependent protein kinase (PKR) by sunitinib impairs antiviral innate immunity. Jha BK, etal., J Biol Chem. 2011 Jul 29;286(30):26319-26. doi: 10.1074/jbc.M111.253443. Epub 2011 Jun 2.
9. Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of hereditary non-polyposis colorectal cancer: a case-control study. Kruger S, etal., Lancet Oncol. 2005 Aug;6(8):566-72.
10. Ribonuclease L is not critical for innate restriction and adaptive immunity against Friend retrovirus infection. Li SX, etal., Virology. 2013 Aug 15;443(1):134-42. doi: 10.1016/j.virol.2013.05.009. Epub 2013 May 29.
11. An essential role for the antiviral endoribonuclease, RNase-L, in antibacterial immunity. Li XL, etal., Proc Natl Acad Sci U S A. 2008 Dec 30;105(52):20816-21. doi: 10.1073/pnas.0807265105. Epub 2008 Dec 15.
12. RNase-L deficiency exacerbates experimental colitis and colitis-associated cancer. Long TM, etal., Inflamm Bowel Dis. 2013 May;19(6):1295-305. doi: 10.1097/MIB.0b013e318281f2fd.
13. Interferon-related genetic markers of necroinflammatory activity in chronic hepatitis C. López-Rodríguez R, etal., PLoS One. 2017 Jul 12;12(7):e0180927. doi: 10.1371/journal.pone.0180927. eCollection 2017.
14. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
15. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
16. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
17. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
18. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
19. Roles of vaccinia virus genes E3L and K3L and host genes PKR and RNase L during intratracheal infection of C57BL/6 mice. Rice AD, etal., J Virol. 2011 Jan;85(1):550-67. doi: 10.1128/JVI.00254-10. Epub 2010 Oct 13.
20. PKR and RNase L contribute to protection against lethal West Nile Virus infection by controlling early viral spread in the periphery and replication in neurons. Samuel MA, etal., J Virol. 2006 Jul;80(14):7009-19. doi: 10.1128/JVI.00489-06.
21. Lack of association between RNASEL Arg462Gln variant and the risk of breast cancer. Sevinc A, etal., Anticancer Res. 2004 Jul-Aug;24(4):2547-9.
22. Middle East Respiratory Syndrome Coronavirus NS4b Protein Inhibits Host RNase L Activation. Thornbrough JM, etal., mBio. 2016 Mar 29;7(2):e00258. doi: 10.1128/mBio.00258-16.
23. Blockade of interferon induction and action by the E3L double-stranded RNA binding proteins of vaccinia virus. Xiang Y, etal., J Virol. 2002 May;76(10):5251-9. doi: 10.1128/jvi.76.10.5251-5259.2002.
24. Role of ribonuclease L in viral pathogen-associated molecular pattern/influenza virus and cigarette smoke-induced inflammation and remodeling. Zhou Y, etal., J Immunol. 2013 Sep 1;191(5):2637-46. doi: 10.4049/jimmunol.1300082. Epub 2013 Aug 2.
Additional References at PubMed
PMID:1565627   PMID:7514564   PMID:7514601   PMID:7539425   PMID:7680958   PMID:7688298   PMID:8910276   PMID:9366257   PMID:9497242   PMID:9856285   PMID:9862963   PMID:10454983  
PMID:10708513   PMID:11063255   PMID:11333017   PMID:11585831   PMID:11799394   PMID:11941539   PMID:12022038   PMID:12034027   PMID:12073768   PMID:12118002   PMID:12145743   PMID:12167701  
PMID:12477932   PMID:12590567   PMID:12624151   PMID:12653398   PMID:12915880   PMID:14570908   PMID:14695991   PMID:15107989   PMID:15534086   PMID:15714208   PMID:15824169   PMID:15849753  
PMID:15908960   PMID:15981205   PMID:16114055   PMID:16156900   PMID:16166078   PMID:16203993   PMID:16234235   PMID:16235172   PMID:16344560   PMID:16537704   PMID:16627618   PMID:16869093  
PMID:16944274   PMID:17020975   PMID:17115900   PMID:17150764   PMID:17200614   PMID:17224235   PMID:17234723   PMID:17237228   PMID:17307214   PMID:17400356   PMID:17407163   PMID:17908993  
PMID:18189233   PMID:18289577   PMID:18295551   PMID:18436282   PMID:18566991   PMID:18575592   PMID:18676680   PMID:18676870   PMID:18767027   PMID:18976975   PMID:19088502   PMID:19170196  
PMID:19223501   PMID:19245366   PMID:19252527   PMID:19267370   PMID:19625176   PMID:19692168   PMID:19760027   PMID:19851509   PMID:19853919   PMID:19923450   PMID:19961052   PMID:20086112  
PMID:20331378   PMID:20410264   PMID:20564318   PMID:20576793   PMID:20588308   PMID:20875083   PMID:21221811   PMID:21360564   PMID:21656378   PMID:21665181   PMID:21685539   PMID:21846818  
PMID:21873635   PMID:22083266   PMID:22464196   PMID:22513284   PMID:22691533   PMID:22925698   PMID:23084743   PMID:23098452   PMID:23109342   PMID:23113544   PMID:23196181   PMID:23382116  
PMID:23412934   PMID:24224612   PMID:24578532   PMID:24651439   PMID:24699816   PMID:24733098   PMID:24891332   PMID:24905202   PMID:24981860   PMID:25275129   PMID:25286525   PMID:25301952  
PMID:25352621   PMID:25416956   PMID:25540362   PMID:25609649   PMID:26236721   PMID:26263979   PMID:26517238   PMID:26656695   PMID:26668391   PMID:26760998   PMID:26771888   PMID:26858407  
PMID:26972000   PMID:26987611   PMID:27318894   PMID:28257035   PMID:28362255   PMID:28399925   PMID:28418037   PMID:28514442   PMID:28654546   PMID:28808124   PMID:29422015   PMID:29507755  
PMID:31276592   PMID:31686670   PMID:31896577   PMID:32830849   PMID:33670646   PMID:33811184   PMID:33961781   PMID:34031250   PMID:34272227   PMID:35655265  


Genomics

Comparative Map Data
RNASEL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381182,573,634 - 182,589,256 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1182,573,634 - 182,589,256 (-)EnsemblGRCh38hg38GRCh38
GRCh371182,542,769 - 182,558,391 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361180,809,395 - 180,822,731 (-)NCBINCBI36Build 36hg18NCBI36
Build 341179,274,428 - 179,287,765NCBI
Celera1155,654,005 - 155,667,341 (-)NCBICelera
Cytogenetic Map1q25.3NCBI
HuRef1153,779,235 - 153,794,860 (-)NCBIHuRef
CHM1_11183,966,207 - 183,981,832 (-)NCBICHM1_1
T2T-CHM13v2.01181,933,110 - 181,948,734 (-)NCBIT2T-CHM13v2.0
Rnasel
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391153,625,089 - 153,644,441 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1153,625,172 - 153,639,967 (+)EnsemblGRCm39 Ensembl
GRCm381153,749,344 - 153,768,690 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1153,749,426 - 153,764,221 (+)EnsemblGRCm38mm10GRCm38
MGSCv371155,596,556 - 155,611,351 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361155,515,149 - 155,524,559 (+)NCBIMGSCv36mm8
Celera1156,181,252 - 156,196,205 (+)NCBICelera
Cytogenetic Map1G3NCBI
Rnasel
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21365,894,990 - 65,910,354 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1365,901,459 - 65,908,704 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1368,502,520 - 68,509,768 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01369,792,702 - 69,799,948 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01367,049,541 - 67,056,829 (+)NCBIRnor_WKY
Rnor_6.01371,188,712 - 71,202,636 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1371,192,142 - 71,202,625 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01376,153,998 - 76,167,666 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41368,822,013 - 68,829,264 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11368,836,092 - 68,843,336 (+)NCBI
Celera1365,801,918 - 65,809,169 (+)NCBICelera
Cytogenetic Map13q21NCBI
Rnasel
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540621,411,980 - 21,425,052 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540621,413,950 - 21,424,860 (-)NCBIChiLan1.0ChiLan1.0
RNASEL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11161,744,169 - 161,759,741 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1161,741,645 - 161,760,045 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01158,092,346 - 158,108,026 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
RNASEL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1715,978,055 - 16,001,604 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl715,856,151 - 16,001,569 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha715,566,511 - 15,588,072 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0715,706,990 - 15,731,063 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl715,584,822 - 15,731,112 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1715,621,143 - 15,642,651 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0715,729,189 - 15,750,983 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0715,858,335 - 15,880,030 (-)NCBIUU_Cfam_GSD_1.0
Rnasel
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934489,316,525 - 89,330,595 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364817,165,353 - 7,177,538 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049364817,165,400 - 7,177,342 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RNASEL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9123,893,294 - 123,910,398 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19123,895,045 - 123,910,386 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29136,210,085 - 136,224,410 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RNASEL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12546,779,221 - 46,795,854 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2546,779,700 - 46,795,842 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605547,997,591 - 48,013,734 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rnasel
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462481411,268,698 - 11,305,221 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462481411,268,725 - 11,319,023 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RNASEL
45 total Variants
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR29B1hsa-miR-29b-3pOncomiRDBexternal_infoNANA23113544
MIR29Chsa-miR-29c-3pOncomiRDBexternal_infoNANA23113544
MIR29Ahsa-miR-29a-3pOncomiRDBexternal_infoNANA23113544
MIR29B2hsa-miR-29b-3pOncomiRDBexternal_infoNANA23113544

Predicted Target Of
Summary Value
Count of predictions:2042
Count of miRNA genes:816
Interacting mature miRNAs:950
Transcripts:ENST00000367559, ENST00000444138, ENST00000539397
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
SHGC-76018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371182,544,295 - 182,544,487UniSTSGRCh37
Build 361180,810,918 - 180,811,110RGDNCBI36
Celera1155,655,528 - 155,655,720RGD
Cytogenetic Map1q25UniSTS
HuRef1153,780,761 - 153,780,953UniSTS
TNG Radiation Hybrid Map186346.0UniSTS
GeneMap99-GB4 RH Map1634.34UniSTS
SHGC-54540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371182,543,016 - 182,543,173UniSTSGRCh37
Build 361180,809,639 - 180,809,796RGDNCBI36
Celera1155,654,249 - 155,654,406RGD
Cytogenetic Map1q25UniSTS
HuRef1153,779,482 - 153,779,639UniSTS
TNG Radiation Hybrid Map186346.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 137 330 401 9 700 8 195 45 195 80 346 481 4 45 148 1
Low 2297 2617 1288 581 1233 423 4057 2019 3455 337 1108 1114 170 1 1159 2539 5 2
Below cutoff 3 44 35 32 12 32 104 132 84 1 5 14 101

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF172072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW968304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC090934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC115697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ003187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ006347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU940316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX097443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB268440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR627369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA127960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ352452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L10381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000367559   ⟹   ENSP00000356530
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1182,573,634 - 182,589,256 (-)Ensembl
RefSeq Acc Id: ENST00000539397   ⟹   ENSP00000440844
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1182,578,121 - 182,589,256 (-)Ensembl
RefSeq Acc Id: NM_021133   ⟹   NP_066956
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381182,573,634 - 182,589,256 (-)NCBI
GRCh371182,542,769 - 182,558,420 (-)NCBI
Build 361180,809,395 - 180,822,731 (-)NCBI Archive
HuRef1153,779,235 - 153,794,860 (-)ENTREZGENE
CHM1_11183,966,207 - 183,981,832 (-)NCBI
T2T-CHM13v2.01181,933,110 - 181,948,734 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047427096   ⟹   XP_047283052
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381182,576,270 - 182,589,256 (-)NCBI
RefSeq Acc Id: XM_047427106   ⟹   XP_047283062
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381182,579,954 - 182,589,256 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_066956   ⟸   NM_021133
- UniProtKB: Q6AI46 (UniProtKB/Swiss-Prot),   Q05823 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000356530   ⟸   ENST00000367559
RefSeq Acc Id: ENSP00000440844   ⟸   ENST00000539397
RefSeq Acc Id: XP_047283052   ⟸   XM_047427096
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047283062   ⟸   XM_047427106
- Peptide Label: isoform X2
Protein Domains
KEN   Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q05823-F1-model_v2 AlphaFold Q05823 1-741 view protein structure

Promoters
RGD ID:6786439
Promoter ID:HG_KWN:6460
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_021133,   UC009WYA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361180,822,136 - 180,822,636 (-)MPROMDB
RGD ID:6786436
Promoter ID:HG_KWN:6461
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000085189,   UC001GPK.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361180,824,641 - 180,825,141 (-)MPROMDB
RGD ID:6858312
Promoter ID:EPDNEW_H2321
Type:initiation region
Name:RNASEL_1
Description:ribonuclease L
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381182,589,253 - 182,589,313EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_021133.4(RNASEL):c.793G>T (p.Glu265Ter) single nucleotide variant Malignant tumor of prostate [RCV000991158]|Prostate cancer, hereditary, 1 [RCV000013878]|not provided [RCV000954847] Chr1:182586014 [GRCh38]
Chr1:182555149 [GRCh37]
Chr1:1q25.3
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_021133.4(RNASEL):c.3G>A (p.Met1Ile) single nucleotide variant Prostate cancer, hereditary, 1 [RCV000013879] Chr1:182586804 [GRCh38]
Chr1:182555939 [GRCh37]
Chr1:1q25.3
pathogenic
NM_021133.4(RNASEL):c.1385G>A (p.Arg462Gln) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279713]|Prostate cancer, susceptibility to [RCV000013880] Chr1:182585422 [GRCh38]
Chr1:182554557 [GRCh37]
Chr1:1q25.3
risk factor|uncertain significance
GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1 copy number loss See cases [RCV000051221] Chr1:175035040..186042595 [GRCh38]
Chr1:175004176..186011727 [GRCh37]
Chr1:173270799..184278350 [NCBI36]
Chr1:1q25.1-31.1
pathogenic
GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1 copy number loss See cases [RCV000053949] Chr1:182137726..186931125 [GRCh38]
Chr1:182106861..186900257 [GRCh37]
Chr1:180373484..185166880 [NCBI36]
Chr1:1q25.3-31.1
pathogenic
GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1 copy number loss See cases [RCV000053948] Chr1:179032905..199724897 [GRCh38]
Chr1:179002040..199694025 [GRCh37]
Chr1:177268663..197960648 [NCBI36]
Chr1:1q25.2-32.1
pathogenic
NM_021133.4(RNASEL):c.1767G>A (p.Trp589Ter) single nucleotide variant Prostate cancer, hereditary, 1 [RCV001292911] Chr1:182582058 [GRCh38]
Chr1:182551193 [GRCh37]
Chr1:1q25.3
pathogenic
GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1 copy number loss See cases [RCV000134144] Chr1:176595962..196301688 [GRCh38]
Chr1:176565098..196270818 [GRCh37]
Chr1:174831721..194537441 [NCBI36]
Chr1:1q25.2-31.3
pathogenic
GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3 copy number gain See cases [RCV000134876] Chr1:171039975..186875957 [GRCh38]
Chr1:171009116..186845089 [GRCh37]
Chr1:169275740..185111712 [NCBI36]
Chr1:1q24.3-31.1
pathogenic
GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1 copy number loss See cases [RCV000142369] Chr1:170929720..191065409 [GRCh38]
Chr1:170898861..191034539 [GRCh37]
Chr1:169165485..189301162 [NCBI36]
Chr1:1q24.3-31.2
pathogenic
GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1 copy number loss See cases [RCV000143688] Chr1:170036068..187555148 [GRCh38]
Chr1:170005209..187524280 [GRCh37]
Chr1:168271833..185790903 [NCBI36]
Chr1:1q24.2-31.1
pathogenic
GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1 copy number loss See cases [RCV000240242] Chr1:181572003..191524283 [GRCh37]
Chr1:1q25.3-31.2
pathogenic
GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 copy number loss See cases [RCV000447098] Chr1:161676893..184071723 [GRCh37]
Chr1:1q23.3-25.3
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)x1 copy number loss See cases [RCV000445748] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1q25.2-25.3(chr1:179564752-183850820)x1 copy number loss See cases [RCV000448646] Chr1:179564752..183850820 [GRCh37]
Chr1:1q25.2-25.3
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)x1 copy number loss See cases [RCV000448809] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1q25.3(chr1:180830413-183981164)x3 copy number gain See cases [RCV000448160] Chr1:180830413..183981164 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)x1 copy number loss See cases [RCV000448686] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1 copy number loss See cases [RCV000512128] Chr1:179011314..199022759 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3 copy number gain See cases [RCV000512520] Chr1:173138799..185129406 [GRCh37]
Chr1:1q25.1-25.3
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q25.1-31.1(chr1:173131908-187406532)x1 copy number loss not provided [RCV000736735] Chr1:173131908..187406532 [GRCh37]
Chr1:1q25.1-31.1
pathogenic
GRCh37/hg19 1q25.3(chr1:182538615-182569626)x1 copy number loss not provided [RCV000749254] Chr1:182538615..182569626 [GRCh37]
Chr1:1q25.3
benign
NM_021133.4(RNASEL):c.1242C>T (p.Asn414=) single nucleotide variant not provided [RCV000893635] Chr1:182585565 [GRCh38]
Chr1:182554700 [GRCh37]
Chr1:1q25.3
benign
GRCh37/hg19 1q25.3(chr1:181863430-183148056)x1 copy number loss not provided [RCV000762696] Chr1:181863430..183148056 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.289A>C (p.Ile97Leu) single nucleotide variant not provided [RCV000994205] Chr1:182586518 [GRCh38]
Chr1:182555653 [GRCh37]
Chr1:1q25.3
likely benign
NC_000001.10:g.172652343_183538289del10885947 deletion 1q24q25 microdeletion syndrome [RCV000785662] Chr1:172652343..183538289 [GRCh37]
Chr1:1q24.3-25.3
pathogenic
NM_021133.4(RNASEL):c.1567G>A (p.Asp523Asn) single nucleotide variant not provided [RCV000994204] Chr1:182582258 [GRCh38]
Chr1:182551393 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
GRCh37/hg19 1q25.3(chr1:180586428-183178629)x3 copy number gain not provided [RCV001005158] Chr1:180586428..183178629 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1179G>A (p.Thr393=) single nucleotide variant not provided [RCV000954846] Chr1:182585628 [GRCh38]
Chr1:182554763 [GRCh37]
Chr1:1q25.3
benign|conflicting interpretations of pathogenicity
NM_021133.4(RNASEL):c.175G>A (p.Gly59Ser) single nucleotide variant not provided [RCV000954848] Chr1:182586632 [GRCh38]
Chr1:182555767 [GRCh37]
Chr1:1q25.3
likely benign
NM_021133.4(RNASEL):c.339T>C (p.Ser113=) single nucleotide variant not provided [RCV000955816] Chr1:182586468 [GRCh38]
Chr1:182555603 [GRCh37]
Chr1:1q25.3
benign
NM_021133.4(RNASEL):c.354C>T (p.Val118=) single nucleotide variant not provided [RCV000889355] Chr1:182586453 [GRCh38]
Chr1:182555588 [GRCh37]
Chr1:1q25.3
benign|conflicting interpretations of pathogenicity
GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1 copy number loss not provided [RCV001005157] Chr1:177551193..199599056 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3 copy number gain not provided [RCV001258487] Chr1:173162501..182702252 [GRCh37]
Chr1:1q25.1-25.3
pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_021133.4(RNASEL):c.418G>T (p.Ala140Ser) single nucleotide variant not provided [RCV001356347] Chr1:182586389 [GRCh38]
Chr1:182555524 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.221T>C (p.Ile74Thr) single nucleotide variant not specified [RCV002248157] Chr1:182586586 [GRCh38]
Chr1:182555721 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758) copy number loss not specified [RCV002053736] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265) copy number loss not specified [RCV002053769] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737) copy number loss not specified [RCV002053780] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
GRCh37/hg19 1q25.3(chr1:180830413-183981164) copy number gain not specified [RCV002053802] Chr1:180830413..183981164 [GRCh37]
Chr1:1q25.3
uncertain significance
GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1 copy number loss not provided [RCV001836604] Chr1:178522021..190322133 [GRCh37]
Chr1:1q25.2-31.1
pathogenic
NC_000001.10:g.(?_179520308)_(183559464_?)dup duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002014062] Chr1:179520308..183559464 [GRCh37]
Chr1:1q25.2-25.3
uncertain significance
NM_021133.4(RNASEL):c.1208G>C (p.Arg403Pro) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279785] Chr1:182585599 [GRCh38]
Chr1:182554734 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1418A>C (p.Gln473Pro) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279793] Chr1:182585389 [GRCh38]
Chr1:182554524 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1250del (p.Leu417fs) deletion Prostate cancer, hereditary, 1 [RCV002279802] Chr1:182585557 [GRCh38]
Chr1:182554692 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1252_1253insA (p.Val418fs) insertion Prostate cancer, hereditary, 1 [RCV002279803] Chr1:182585554..182585555 [GRCh38]
Chr1:182554689..182554690 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1285dup (p.His429fs) duplication Prostate cancer, hereditary, 1 [RCV002279813] Chr1:182585521..182585522 [GRCh38]
Chr1:182554656..182554657 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1399_1400insA (p.Ser467fs) insertion Prostate cancer, hereditary, 1 [RCV002279832] Chr1:182585407..182585408 [GRCh38]
Chr1:182554542..182554543 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1263T>C (p.Tyr421_Gly422=) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279846] Chr1:182585544 [GRCh38]
Chr1:182554679 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1368G>T (p.Glu456Asp) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279786] Chr1:182585439 [GRCh38]
Chr1:182554574 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1393C>A (p.Leu465Met) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279788] Chr1:182585414 [GRCh38]
Chr1:182554549 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1405T>A (p.Phe469Ile) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279789] Chr1:182585402 [GRCh38]
Chr1:182554537 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1222del (p.Leu408fs) deletion Prostate cancer, hereditary, 1 [RCV002279798] Chr1:182585585 [GRCh38]
Chr1:182554720 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1248del (p.Leu417fs) deletion Prostate cancer, hereditary, 1 [RCV002279800] Chr1:182585559 [GRCh38]
Chr1:182554694 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1268del (p.Ser423fs) deletion Prostate cancer, hereditary, 1 [RCV002279810] Chr1:182585539 [GRCh38]
Chr1:182554674 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1273dup (p.Ser425fs) duplication Prostate cancer, hereditary, 1 [RCV002279811] Chr1:182585533..182585534 [GRCh38]
Chr1:182554668..182554669 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1293dup (p.Val432fs) duplication Prostate cancer, hereditary, 1 [RCV002279816] Chr1:182585513..182585514 [GRCh38]
Chr1:182554648..182554649 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1300del (p.Val434fs) deletion Prostate cancer, hereditary, 1 [RCV002279818] Chr1:182585507 [GRCh38]
Chr1:182554642 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1400dup (p.Ile468fs) duplication Prostate cancer, hereditary, 1 [RCV002279833] Chr1:182585406..182585407 [GRCh38]
Chr1:182554541..182554542 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1289T>A (p.Leu430Ter) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279841] Chr1:182585518 [GRCh38]
Chr1:182554653 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1270G>C (p.Glu424Gln) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279849] Chr1:182585537 [GRCh38]
Chr1:182554672 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1289T>C (p.Leu430Ser) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279850] Chr1:182585518 [GRCh38]
Chr1:182554653 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1407T>A (p.Phe469Leu) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279790] Chr1:182585400 [GRCh38]
Chr1:182554535 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1412C>T (p.Ala471Val) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279792] Chr1:182585395 [GRCh38]
Chr1:182554530 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1422A>T (p.Glu474Asp) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279794] Chr1:182585385 [GRCh38]
Chr1:182554520 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1234del (p.Arg412fs) deletion Prostate cancer, hereditary, 1 [RCV002279799] Chr1:182585573 [GRCh38]
Chr1:182554708 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1250dup (p.Leu417fs) duplication Prostate cancer, hereditary, 1 [RCV002279801] Chr1:182585556..182585557 [GRCh38]
Chr1:182554691..182554692 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1311dup (p.Glu438Ter) duplication Prostate cancer, hereditary, 1 [RCV002279819] Chr1:182585495..182585496 [GRCh38]
Chr1:182554630..182554631 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1364dup (p.Asn455fs) duplication Prostate cancer, hereditary, 1 [RCV002279826] Chr1:182585442..182585443 [GRCh38]
Chr1:182554577..182554578 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1385del (p.Arg462fs) deletion Prostate cancer, hereditary, 1 [RCV002279830] Chr1:182585422 [GRCh38]
Chr1:182554557 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1407del (p.Phe469fs) deletion Prostate cancer, hereditary, 1 [RCV002279835] Chr1:182585400 [GRCh38]
Chr1:182554535 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1257A>T (p.Thr419_Phe420=) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279844] Chr1:182585550 [GRCh38]
Chr1:182554685 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1429T>A (p.Leu477Met) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279796] Chr1:182585378 [GRCh38]
Chr1:182554513 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1253dup (p.Thr419fs) duplication Prostate cancer, hereditary, 1 [RCV002279804] Chr1:182585553..182585554 [GRCh38]
Chr1:182554688..182554689 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1266dup (p.Ser423fs) duplication Prostate cancer, hereditary, 1 [RCV002279809] Chr1:182585540..182585541 [GRCh38]
Chr1:182554675..182554676 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1279del (p.Arg427fs) deletion Prostate cancer, hereditary, 1 [RCV002279812] Chr1:182585528 [GRCh38]
Chr1:182554663 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1403del (p.Ile468fs) deletion Prostate cancer, hereditary, 1 [RCV002279834] Chr1:182585404 [GRCh38]
Chr1:182554539 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1222C>T (p.Leu408_Gln409=) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279842] Chr1:182585585 [GRCh38]
Chr1:182554720 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1257del (p.Phe420fs) deletion Prostate cancer, hereditary, 1 [RCV002279807] Chr1:182585550 [GRCh38]
Chr1:182554685 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1311del (p.Cys437fs) deletion Prostate cancer, hereditary, 1 [RCV002279820] Chr1:182585496 [GRCh38]
Chr1:182554631 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1343dup (p.His448fs) duplication Prostate cancer, hereditary, 1 [RCV002279822] Chr1:182585463..182585464 [GRCh38]
Chr1:182554598..182554599 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1358del (p.Val453fs) deletion Prostate cancer, hereditary, 1 [RCV002279824] Chr1:182585449 [GRCh38]
Chr1:182554584 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1369del (p.Glu457fs) deletion Prostate cancer, hereditary, 1 [RCV002279827] Chr1:182585438 [GRCh38]
Chr1:182554573 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1256C>A (p.Thr419Lys) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279828] Chr1:182585551 [GRCh38]
Chr1:182554686 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1380del (p.Phe460fs) deletion Prostate cancer, hereditary, 1 [RCV002279829] Chr1:182585427 [GRCh38]
Chr1:182554562 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1395del (p.Ser466fs) deletion Prostate cancer, hereditary, 1 [RCV002279831] Chr1:182585412 [GRCh38]
Chr1:182554547 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1264G>T (p.Gly422Trp) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279839] Chr1:182585543 [GRCh38]
Chr1:182554678 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1430del (p.Leu477fs) deletion Prostate cancer, hereditary, 1 [RCV002279840] Chr1:182585377 [GRCh38]
Chr1:182554512 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1260C>T (p.Phe420_Tyr421=) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279845] Chr1:182585547 [GRCh38]
Chr1:182554682 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1409A>C (p.Lys470Thr) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279791] Chr1:182585398 [GRCh38]
Chr1:182554533 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1256del (p.Thr419fs) deletion Prostate cancer, hereditary, 1 [RCV002279805] Chr1:182585551 [GRCh38]
Chr1:182554686 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1259dup (p.Tyr421fs) duplication Prostate cancer, hereditary, 1 [RCV002279808] Chr1:182585547..182585548 [GRCh38]
Chr1:182554682..182554683 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1286del (p.His429fs) deletion Prostate cancer, hereditary, 1 [RCV002279814] Chr1:182585521 [GRCh38]
Chr1:182554656 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1287_1288insA (p.Leu430fs) insertion Prostate cancer, hereditary, 1 [RCV002279815] Chr1:182585519..182585520 [GRCh38]
Chr1:182554654..182554655 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1413del (p.Val472fs) deletion Prostate cancer, hereditary, 1 [RCV002279837] Chr1:182585394 [GRCh38]
Chr1:182554529 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1305C>T (p.Thr435_Leu436=) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279847] Chr1:182585502 [GRCh38]
Chr1:182554637 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1388A>G (p.Asn463Ser) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279787] Chr1:182585419 [GRCh38]
Chr1:182554554 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1230C>A (p.Ser410Arg) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279795] Chr1:182585577 [GRCh38]
Chr1:182554712 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1219del (p.Cys407fs) deletion Prostate cancer, hereditary, 1 [RCV002279797] Chr1:182585588 [GRCh38]
Chr1:182554723 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1237G>A (p.Glu413Lys) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279806] Chr1:182585570 [GRCh38]
Chr1:182554705 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1243A>G (p.Ser415Gly) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279817] Chr1:182585564 [GRCh38]
Chr1:182554699 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1322del (p.Leu441fs) deletion Prostate cancer, hereditary, 1 [RCV002279821] Chr1:182585485 [GRCh38]
Chr1:182554620 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1351del (p.Glu451fs) deletion Prostate cancer, hereditary, 1 [RCV002279823] Chr1:182585456 [GRCh38]
Chr1:182554591 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1360del (p.Glu454fs) deletion Prostate cancer, hereditary, 1 [RCV002279825] Chr1:182585447 [GRCh38]
Chr1:182554582 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1411del (p.Ala471fs) deletion Prostate cancer, hereditary, 1 [RCV002279836] Chr1:182585396 [GRCh38]
Chr1:182554531 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1414_1415del (p.Val472fs) deletion Prostate cancer, hereditary, 1 [RCV002279838] Chr1:182585392..182585393 [GRCh38]
Chr1:182554527..182554528 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1239G>A (p.Glu413_Asn414=) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279843] Chr1:182585568 [GRCh38]
Chr1:182554703 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1416T>C (p.Val472_Gln473=) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279848] Chr1:182585391 [GRCh38]
Chr1:182554526 [GRCh37]
Chr1:1q25.3
uncertain significance
NM_021133.4(RNASEL):c.1303A>C (p.Thr435Pro) single nucleotide variant Prostate cancer, hereditary, 1 [RCV002279851] Chr1:182585504 [GRCh38]
Chr1:182554639 [GRCh37]
Chr1:1q25.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10050 AgrOrtholog
COSMIC RNASEL COSMIC
Ensembl Genes ENSG00000135828 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000356530 ENTREZGENE
  ENSP00000356530.3 UniProtKB/Swiss-Prot
  ENSP00000440844 ENTREZGENE
  ENSP00000440844.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000367559 ENTREZGENE
  ENST00000367559.7 UniProtKB/Swiss-Prot
  ENST00000539397 ENTREZGENE
  ENST00000539397.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1440.180 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000135828 GTEx
HGNC ID HGNC:10050 ENTREZGENE
Human Proteome Map RNASEL Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KEN_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KEN_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNase-L_RNase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6041 UniProtKB/Swiss-Prot
NCBI Gene 6041 ENTREZGENE
OMIM 180435 OMIM
  601518 OMIM
Pfam Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ank_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribonuc_2-5A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34418 PharmGKB
PRINTS ANKYRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KEN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt Q05823 ENTREZGENE
  Q1RLL8_HUMAN UniProtKB/TrEMBL
  Q6AI46 ENTREZGENE
  RN5A_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q5W0L2 UniProtKB/Swiss-Prot
  Q6AI46 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-08 RNASEL  ribonuclease L  HPC1  hereditary prostate cancer 1  Data Merged 737654 PROVISIONAL
2016-03-09 RNASEL  ribonuclease L  PRCA1  prostate cancer 1  Data Merged 737654 PROVISIONAL
2016-02-02 RNASEL  ribonuclease L    ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)  Symbol and/or name change 5135510 APPROVED