UniProtKB - O60930 (RNH1_HUMAN)
Protein
Ribonuclease H1
Gene
RNASEH1
Organism
Homo sapiens (Human)
Status
Functioni
Endonuclease that specifically degrades the RNA of RNA-DNA hybrids (PubMed:10497183). Plays a role in RNA polymerase II (RNAp II) transcription termination by degrading R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site and behind the elongating RNAp II (PubMed:21700224).2 Publications
Catalytic activityi
- Endonucleolytic cleavage to 5'-phosphomonoester.PROSITE-ProRule annotation EC:3.1.26.4
Cofactori
Mg2+Note: Binds 1 Mg2+ ion per subunit. May bind a second metal ion at a regulatory site, or after substrate binding.
Activity regulationi
In the presence of magnesium, manganese is inhibitory.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 145 | Magnesium 1PROSITE-ProRule annotation | 1 | |
Metal bindingi | 145 | Magnesium 2PROSITE-ProRule annotation | 1 | |
Metal bindingi | 186 | Magnesium 1PROSITE-ProRule annotation | 1 | |
Metal bindingi | 210 | Magnesium 1PROSITE-ProRule annotation | 1 | |
Metal bindingi | 274 | Magnesium 2PROSITE-ProRule annotation | 1 |
GO - Molecular functioni
- magnesium ion binding Source: InterPro
- nucleic acid binding Source: ProtInc
- ribonuclease activity Source: ProtInc
- RNA binding Source: ProtInc
- RNA-DNA hybrid ribonuclease activity Source: UniProtKB
GO - Biological processi
- DNA replication, removal of RNA primer Source: GO_Central
- RNA catabolic process Source: ProtInc
- RNA phosphodiester bond hydrolysis, endonucleolytic Source: GO_Central
Keywordsi
Molecular function | Endonuclease, Hydrolase, Nuclease |
Ligand | Magnesium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | O60930 |
Names & Taxonomyi
Protein namesi | Recommended name: Ribonuclease H1 (EC:3.1.26.4)Short name: RNase H1 Alternative name(s): Ribonuclease H type II |
Gene namesi | Name:RNASEH1 Synonyms:RNH1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000171865.9 |
HGNCi | HGNC:18466, RNASEH1 |
MIMi | 604123, gene |
neXtProti | NX_O60930 |
Subcellular locationi
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 (PEOB2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB2 patients manifest exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia, such as impaired gait and dysarthria. Some patients may have respiratory insufficiency.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_074561 | 142 | V → I in PEOB2; has partial residual endonuclease activity. 1 PublicationCorresponds to variant dbSNP:rs766294940EnsemblClinVar. | 1 | |
Natural variantiVAR_074562 | 185 | A → V in PEOB2; has partial residual endonuclease activity. 1 PublicationCorresponds to variant dbSNP:rs1057517675EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutation, Primary mitochondrial disease, Progressive external ophthalmoplegiaOrganism-specific databases
DisGeNETi | 246243 |
MalaCardsi | RNASEH1 |
MIMi | 616479, phenotype |
OpenTargetsi | ENSG00000171865 |
Orphaneti | 329336, Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy |
PharmGKBi | PA38543 |
Miscellaneous databases
Pharosi | O60930, Tchem |
Chemistry databases
ChEMBLi | CHEMBL5893 |
Polymorphism and mutation databases
BioMutai | RNASEH1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000195433 | 1 – 286 | Ribonuclease H1Add BLAST | 286 |
Proteomic databases
EPDi | O60930 |
jPOSTi | O60930 |
MassIVEi | O60930 |
MaxQBi | O60930 |
PaxDbi | O60930 |
PeptideAtlasi | O60930 |
PRIDEi | O60930 |
ProteomicsDBi | 49675 |
PTM databases
iPTMneti | O60930 |
PhosphoSitePlusi | O60930 |
Expressioni
Tissue specificityi
Ubiquitous.
Gene expression databases
Bgeei | ENSG00000171865, Expressed in secondary oocyte and 245 other tissues |
ExpressionAtlasi | O60930, baseline and differential |
Genevisiblei | O60930, HS |
Organism-specific databases
HPAi | ENSG00000171865, Low tissue specificity |
Interactioni
Subunit structurei
Monomer.
CuratedBinary interactionsi
Hide detailsO60930
Protein-protein interaction databases
BioGRIDi | 128882, 20 interactors |
IntActi | O60930, 14 interactors |
MINTi | O60930 |
STRINGi | 9606.ENSP00000313350 |
Chemistry databases
BindingDBi | O60930 |
Miscellaneous databases
RNActi | O60930, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | O60930 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | O60930 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 136 – 282 | RNase HPROSITE-ProRule annotationAdd BLAST | 147 |
Sequence similaritiesi
Belongs to the RNase H family.Curated
Phylogenomic databases
eggNOGi | KOG3752, Eukaryota |
GeneTreei | ENSGT00390000003466 |
HOGENOMi | CLU_030894_0_2_1 |
InParanoidi | O60930 |
OMAi | ELWYGLY |
OrthoDBi | 1434144at2759 |
PhylomeDBi | O60930 |
TreeFami | TF313356 |
Family and domain databases
Gene3Di | 3.30.420.10, 1 hit 3.40.970.10, 1 hit |
InterProi | View protein in InterPro IPR009027, Ribosomal_L9/RNase_H1_N IPR017067, RNase_H1_euk IPR011320, RNase_H1_N IPR037056, RNase_H1_N_sf IPR012337, RNaseH-like_sf IPR002156, RNaseH_domain IPR036397, RNaseH_sf |
Pfami | View protein in Pfam PF01693, Cauli_VI, 1 hit PF00075, RNase_H, 1 hit |
PIRSFi | PIRSF036852, Ribonuclease_H1_euk, 1 hit |
SUPFAMi | SSF53098, SSF53098, 1 hit SSF55658, SSF55658, 1 hit |
PROSITEi | View protein in PROSITE PS50879, RNASE_H, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
O60930-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MSWLLFLAHR VALAALPCRR GSRGFGMFYA VRRGRKTGVF LTWNECRAQV
60 70 80 90 100
DRFPAARFKK FATEDEAWAF VRKSASPEVS EGHENQHGQE SEAKASKRLR
110 120 130 140 150
EPLDGDGHES AEPYAKHMKP SVEPAPPVSR DTFSYMGDFV VVYTDGCCSS
160 170 180 190 200
NGRRRPRAGI GVYWGPGHPL NVGIRLPGRQ TNQRAEIHAA CKAIEQAKTQ
210 220 230 240 250
NINKLVLYTD SMFTINGITN WVQGWKKNGW KTSAGKEVIN KEDFVALERL
260 270 280
TQGMDIQWMH VPGHSGFIGN EEADRLAREG AKQSED
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF8WD93 | F8WD93_HUMAN | Ribonuclease H1 | RNASEH1 | 43 | Annotation score: | ||
F8WBP0 | F8WBP0_HUMAN | Ribonuclease H1 | RNASEH1 | 43 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 24 | G → R in AAV38476 (Ref. 5) Curated | 1 | |
Sequence conflicti | 33 | R → K in CAG46619 (Ref. 4) Curated | 1 | |
Sequence conflicti | 68 | W → R in AAV38476 (Ref. 5) Curated | 1 | |
Sequence conflicti | 89 | Q → R in CAA11835 (PubMed:9894807).Curated | 1 | |
Sequence conflicti | 136 | M → I in CAG46619 (Ref. 4) Curated | 1 | |
Sequence conflicti | 223 | Q → R in CAA11835 (PubMed:9894807).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023469 | 4 | L → F2 PublicationsCorresponds to variant dbSNP:rs1136545Ensembl. | 1 | |
Natural variantiVAR_074561 | 142 | V → I in PEOB2; has partial residual endonuclease activity. 1 PublicationCorresponds to variant dbSNP:rs766294940EnsemblClinVar. | 1 | |
Natural variantiVAR_074562 | 185 | A → V in PEOB2; has partial residual endonuclease activity. 1 PublicationCorresponds to variant dbSNP:rs1057517675EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF048995 mRNA Translation: AAC78564.1 AF048994 mRNA Translation: AAC78563.1 AF039652 mRNA Translation: AAC09261.1 AJ224117 mRNA Translation: CAA11835.1 CR541820 mRNA Translation: CAG46619.1 BT019670 mRNA Translation: AAV38476.1 AK075490 mRNA Translation: BAG52156.1 AC108488 Genomic DNA Translation: AAX82026.1 CH471053 Genomic DNA Translation: EAX01061.1 BC002973 mRNA Translation: AAH02973.1 |
CCDSi | CCDS1647.1 |
RefSeqi | NP_002927.2, NM_002936.4 |
Genome annotation databases
Ensembli | ENST00000315212; ENSP00000313350; ENSG00000171865 |
GeneIDi | 246243 |
KEGGi | hsa:246243 |
UCSCi | uc002qxt.5, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
Wikipedia RNase H entry |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF048995 mRNA Translation: AAC78564.1 AF048994 mRNA Translation: AAC78563.1 AF039652 mRNA Translation: AAC09261.1 AJ224117 mRNA Translation: CAA11835.1 CR541820 mRNA Translation: CAG46619.1 BT019670 mRNA Translation: AAV38476.1 AK075490 mRNA Translation: BAG52156.1 AC108488 Genomic DNA Translation: AAX82026.1 CH471053 Genomic DNA Translation: EAX01061.1 BC002973 mRNA Translation: AAH02973.1 |
CCDSi | CCDS1647.1 |
RefSeqi | NP_002927.2, NM_002936.4 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2QK9 | X-ray | 2.55 | A | 136-286 | [»] | |
2QKB | X-ray | 2.40 | A/B | 136-286 | [»] | |
2QKK | X-ray | 3.20 | A/B/E/F/I/J/M/N/R/S/W | 136-286 | [»] | |
3BSU | X-ray | 2.10 | A/B/C/F/G/H | 27-76 | [»] | |
SMRi | O60930 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 128882, 20 interactors |
IntActi | O60930, 14 interactors |
MINTi | O60930 |
STRINGi | 9606.ENSP00000313350 |
Chemistry databases
BindingDBi | O60930 |
ChEMBLi | CHEMBL5893 |
PTM databases
iPTMneti | O60930 |
PhosphoSitePlusi | O60930 |
Polymorphism and mutation databases
BioMutai | RNASEH1 |
Proteomic databases
EPDi | O60930 |
jPOSTi | O60930 |
MassIVEi | O60930 |
MaxQBi | O60930 |
PaxDbi | O60930 |
PeptideAtlasi | O60930 |
PRIDEi | O60930 |
ProteomicsDBi | 49675 |
Protocols and materials databases
Antibodypediai | 35292, 111 antibodies |
DNASUi | 246243 |
Genome annotation databases
Ensembli | ENST00000315212; ENSP00000313350; ENSG00000171865 |
GeneIDi | 246243 |
KEGGi | hsa:246243 |
UCSCi | uc002qxt.5, human |
Organism-specific databases
CTDi | 246243 |
DisGeNETi | 246243 |
EuPathDBi | HostDB:ENSG00000171865.9 |
GeneCardsi | RNASEH1 |
HGNCi | HGNC:18466, RNASEH1 |
HPAi | ENSG00000171865, Low tissue specificity |
MalaCardsi | RNASEH1 |
MIMi | 604123, gene 616479, phenotype |
neXtProti | NX_O60930 |
OpenTargetsi | ENSG00000171865 |
Orphaneti | 329336, Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy |
PharmGKBi | PA38543 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3752, Eukaryota |
GeneTreei | ENSGT00390000003466 |
HOGENOMi | CLU_030894_0_2_1 |
InParanoidi | O60930 |
OMAi | ELWYGLY |
OrthoDBi | 1434144at2759 |
PhylomeDBi | O60930 |
TreeFami | TF313356 |
Enzyme and pathway databases
PathwayCommonsi | O60930 |
Miscellaneous databases
BioGRID-ORCSi | 246243, 41 hits in 843 CRISPR screens |
ChiTaRSi | RNASEH1, human |
EvolutionaryTracei | O60930 |
GeneWikii | RNASEH1 |
GenomeRNAii | 246243 |
Pharosi | O60930, Tchem |
PROi | PR:O60930 |
RNActi | O60930, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000171865, Expressed in secondary oocyte and 245 other tissues |
ExpressionAtlasi | O60930, baseline and differential |
Genevisiblei | O60930, HS |
Family and domain databases
Gene3Di | 3.30.420.10, 1 hit 3.40.970.10, 1 hit |
InterProi | View protein in InterPro IPR009027, Ribosomal_L9/RNase_H1_N IPR017067, RNase_H1_euk IPR011320, RNase_H1_N IPR037056, RNase_H1_N_sf IPR012337, RNaseH-like_sf IPR002156, RNaseH_domain IPR036397, RNaseH_sf |
Pfami | View protein in Pfam PF01693, Cauli_VI, 1 hit PF00075, RNase_H, 1 hit |
PIRSFi | PIRSF036852, Ribonuclease_H1_euk, 1 hit |
SUPFAMi | SSF53098, SSF53098, 1 hit SSF55658, SSF55658, 1 hit |
PROSITEi | View protein in PROSITE PS50879, RNASE_H, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RNH1_HUMAN | |
Accessioni | O60930Primary (citable) accession number: O60930 Secondary accession number(s): B3KQU4 Q6FHD4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 27, 2001 |
Last sequence update: | April 27, 2001 | |
Last modified: | December 2, 2020 | |
This is version 187 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations