This gene encodes an endonuclease that specifically degrades the RNA of RNA-DNA hybrids and plays a key role in DNA replication and repair. Alternate in-frame start codon initiation results in the production of alternate isoforms that are directed to the mitochondria or to the nucleus. The production of the mitochondrial isoform is modulated by an upstream open reading frame (u... See more...

Aliases for RNASEH1 Gene

Aliases for RNASEH1 Gene

  • Ribonuclease H1 2 3 4 5
  • Ribonuclease H Type II 3 4
  • RNase H1 2 4
  • RNH1 3 4
  • EC 3.1.26.4 4
  • H1RNA 3
  • PEOB2 3

External Ids for RNASEH1 Gene

Previous GeneCards Identifiers for RNASEH1 Gene

  • GC02M003070
  • GC02M003234
  • GC02M003157
  • GC02M003158
  • GC02M003085
  • GC02M003570
  • GC02M003592
  • GC02M003535

Summaries for RNASEH1 Gene

Entrez Gene Summary for RNASEH1 Gene

  • This gene encodes an endonuclease that specifically degrades the RNA of RNA-DNA hybrids and plays a key role in DNA replication and repair. Alternate in-frame start codon initiation results in the production of alternate isoforms that are directed to the mitochondria or to the nucleus. The production of the mitochondrial isoform is modulated by an upstream open reading frame (uORF). Mutations in this gene have been found in individuals with progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2. Alternative splicing results in additional coding and non-coding transcript variants. Pseudogenes of this gene have been defined on chromosomes 2 and 17. [provided by RefSeq, Jul 2017]

GeneCards Summary for RNASEH1 Gene

RNASEH1 (Ribonuclease H1) is a Protein Coding gene. Diseases associated with RNASEH1 include Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 and Mitochondrial Myopathy. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is ENSG00000286905.

UniProtKB/Swiss-Prot Summary for RNASEH1 Gene

  • 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).

Gene Wiki entry for RNASEH1 Gene

Additional gene information for RNASEH1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RNASEH1 Gene

Genomics for RNASEH1 Gene

GeneHancer (GH) Regulatory Elements for RNASEH1 Gene

Promoters and enhancers for RNASEH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J003557 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 -0.1 -111 3.4 FOXK2 ZBTB40 ZNF217 EP300 SIN3A NRF1 USF1 POLR2G SP1 NCOR1 RNASEH1-AS1 ENSG00000286905 RNASEH1 RPS7 COLEC11 piR-56759-291
GH02J003574 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 19.7 -18.3 -18330 5 RXRA EP300 FOXK2 ZBTB40 ZNF217 ZSCAN5C SIN3A MYC TCF12 POLR2G RPS7 ENSG00000287126 NONHSAG026858.2 TRAPPC12 COLEC11 RNASEH1 RNASEH1-AS1 ENSG00000242282 piR-43148-003
GH02J003534 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 12.6 +22.2 22166 3.1 CTCF TCF12 POLR2G NCOR1 JUND FOS POLR2A ZBTB11 TOE1 MYC ENSG00000242282 lnc-RPS7-2 ADI1 RNASEH1-AS1 COLEC11 RNASEH1 RPS7 ENSG00000286905
GH02J003562 Enhancer 0.7 ENCODE 0.4 -5.7 -5676 2.4 MYC NCOR1 SRF CHD1 ELF1 TAL1 RCOR1 IRF4 IKZF1 HDAC2 RNASEH1-AS1 TRAPPC12 RPS7 piR-56759-291 RNASEH1
GH02J003560 Enhancer 0.3 Ensembl 0.7 -2.1 -2130 0.2 ZNF366 ZNF512 RNASEH1-AS1 RPS7 RNASEH1 piR-56759-291
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RNASEH1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RNASEH1

Top Transcription factor binding sites by QIAGEN in the RNASEH1 gene promoter:
  • CUTL1
  • E2F-1
  • Evi-1
  • GR
  • GR-alpha
  • GR-beta
  • HOXA5
  • IRF-1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for RNASEH1 Gene

Genomic Locations for RNASEH1 Gene
chr2:3,531,813-3,558,371
(GRCh38/hg38)
Size:
26,559 bases
Orientation:
Minus strand
chr2:3,592,383-3,606,206
(GRCh37/hg19)
Size:
13,824 bases
Orientation:
Minus strand

Genomic View for RNASEH1 Gene

Genes around RNASEH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNASEH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNASEH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNASEH1 Gene

Proteins for RNASEH1 Gene

  • Protein details for RNASEH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60930-RNH1_HUMAN
    Recommended name:
    Ribonuclease H1
    Protein Accession:
    O60930
    Secondary Accessions:
    • B3KQU4
    • O60523
    • O60857
    • Q57Z93
    • Q5U0C1
    • Q6FHD4

    Protein attributes for RNASEH1 Gene

    Size:
    286 amino acids
    Molecular mass:
    32064 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for RNASEH1 Gene

neXtProt entry for RNASEH1 Gene

Post-translational modifications for RNASEH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RNASEH1 Gene

No data available for DME Specific Peptides for RNASEH1 Gene

Domains & Families for RNASEH1 Gene

Gene Families for RNASEH1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for RNASEH1 Gene

Suggested Antigen Peptide Sequences for RNASEH1 Gene

GenScript: Design optimal peptide antigens:
  • Ribonuclease H type II (RNH1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60930

UniProtKB/Swiss-Prot:

RNH1_HUMAN :
  • Belongs to the RNase H family.
Family:
  • Belongs to the RNase H family.
genes like me logo Genes that share domains with RNASEH1: view

Function for RNASEH1 Gene

Molecular function for RNASEH1 Gene

UniProtKB/Swiss-Prot Function:
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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Endonucleolytic cleavage to 5'-phosphomonoester.; EC=3.1.26.4; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
In the presence of magnesium, manganese is inhibitory.
GENATLAS Biochemistry:
ribonuclease,RNAse H family,1,ubiquitously expressed,located in the SMCR critical region

Enzyme Numbers (IUBMB) for RNASEH1 Gene

Gene Ontology (GO) - Molecular Function for RNASEH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0003676 nucleic acid binding TAS 9799596
GO:0003723 RNA binding TAS 9799596
GO:0004518 nuclease activity IEA --
GO:0004519 endonuclease activity IEA --
genes like me logo Genes that share ontologies with RNASEH1: view
genes like me logo Genes that share phenotypes with RNASEH1: view

Human Phenotype Ontology for RNASEH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RNASEH1 Gene

MGI Knock Outs for RNASEH1:

Animal Model Products

  • Taconic Biosciences Mouse Models for RNASEH1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNASEH1

Clone Products

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for RNASEH1 Gene

Localization for RNASEH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNASEH1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RNASEH1 gene
Compartment Confidence
mitochondrion 3
nucleus 3
extracellular 2
cytoskeleton 2
cytosol 2
plasma membrane 1
peroxisome 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for RNASEH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with RNASEH1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RNASEH1 Gene

Pathways & Interactions for RNASEH1 Gene

PathCards logo

SuperPathways for RNASEH1 Gene

SuperPathway Contained pathways
1 Telomere C-strand (Lagging Strand) Synthesis
.48
genes like me logo Genes that share pathways with RNASEH1: view

Pathways by source for RNASEH1 Gene

1 KEGG pathway for RNASEH1 Gene
1 GeneGo (Thomson Reuters) pathway for RNASEH1 Gene
  • Cell cycle Transition and termination of DNA replication

Gene Ontology (GO) - Biological Process for RNASEH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006401 RNA catabolic process TAS 9799596
GO:0043137 DNA replication, removal of RNA primer IBA 21873635
GO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic IBA 21873635
genes like me logo Genes that share ontologies with RNASEH1: view

No data available for SIGNOR curated interactions for RNASEH1 Gene

Drugs & Compounds for RNASEH1 Gene

(4) Drugs for RNASEH1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Manganese Approved Nutra 51

(4) Additional Compounds for RNASEH1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RNASEH1: view

Transcripts for RNASEH1 Gene

mRNA/cDNA for RNASEH1 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNASEH1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RNASEH1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c
SP1: - - - -
SP2: - - -
SP3: - -
SP4:
SP5: -
SP6: - -
SP7: -

Relevant External Links for RNASEH1 Gene

GeneLoc Exon Structure for
RNASEH1

Expression for RNASEH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RNASEH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RNASEH1 Gene

This gene is overexpressed in NK cells (63.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RNASEH1 Gene



Protein tissue co-expression partners for RNASEH1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RNASEH1

SOURCE GeneReport for Unigene cluster for RNASEH1 Gene:

Hs.568006

mRNA Expression by UniProt/SwissProt for RNASEH1 Gene:

O60930-RNH1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for RNASEH1 Gene

  • Lung(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RNASEH1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • eye
  • eyelid
  • face
  • head
  • mouth
  • pharynx
Thorax:
  • esophagus
Abdomen:
  • stomach
Limb:
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with RNASEH1: view

No data available for mRNA differential expression in normal tissues for RNASEH1 Gene

Orthologs for RNASEH1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RNASEH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNASEH1 31 30
  • 99.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RNASEH1 30
  • 84.98 (n)
-- 31
  • 81 (a)
OneToMany
cow
(Bos Taurus)
Mammalia RNASEH1 30
  • 82.02 (n)
-- 31
  • 79 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Rnaseh1 17 31 30
  • 78.71 (n)
rat
(Rattus norvegicus)
Mammalia Rnaseh1 30
  • 78.52 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 68 (a)
ManyToMany
-- 31
  • 59 (a)
ManyToMany
chicken
(Gallus gallus)
Aves RNASEH1 31 30
  • 65.8 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 50 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rnaseh1 30
  • 62.44 (n)
Str.3464 30
zebrafish
(Danio rerio)
Actinopterygii rnaseh1 31 30
  • 61.69 (n)
OneToMany
Dr.16522 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008088 30
  • 48.89 (n)
fruit fly
(Drosophila melanogaster)
Insecta rnh1 31 32 30
  • 47.6 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rnh-1.0 31 30
  • 54.11 (n)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL017C 30
  • 42.9 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RNH1 33 31
  • 21 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
OneToMany
Species where no ortholog for RNASEH1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for RNASEH1 Gene

ENSEMBL:
Gene Tree for RNASEH1 (if available)
TreeFam:
Gene Tree for RNASEH1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RNASEH1: view image

Paralogs for RNASEH1 Gene

Paralogs for RNASEH1 Gene

Pseudogenes.org Pseudogenes for RNASEH1 Gene

genes like me logo Genes that share paralogs with RNASEH1: view

Variants for RNASEH1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RNASEH1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
669563 Benign: not provided 3,551,949(-) A/G INTRON_VARIANT
670028 Benign: not provided 3,557,948(-) A/C FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
670034 Benign: not provided 3,557,938(-) T/G FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
671580 Likely Benign: not provided 3,550,135(-) C/T INTRON_VARIANT
673568 Benign/Likely Benign: not provided 3,548,003(-) T/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for RNASEH1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RNASEH1 Gene

Variant ID Type Subtype PubMed ID
dgv3702n100 CNV gain 25217958
nsv1011656 CNV gain 25217958
nsv580822 CNV gain 21841781
nsv819972 CNV gain 19587683

Variation tolerance for RNASEH1 Gene

Residual Variation Intolerance Score: 23.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.48; 10.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RNASEH1 Gene

Human Gene Mutation Database (HGMD)
RNASEH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNASEH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNASEH1 Gene

Disorders for RNASEH1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for RNASEH1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RNH1_HUMAN
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 (PEOB2) [MIM:616479]: A 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. {ECO:0000269 PubMed:26094573}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RNASEH1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RNASEH1: view

No data available for Genatlas for RNASEH1 Gene

Publications for RNASEH1 Gene

  1. Structure of human RNase H1 complexed with an RNA/DNA hybrid: insight into HIV reverse transcription. (PMID: 17964265) Nowotny M … Yang W (Molecular cell 2007) 2 3 23 54
  2. Properties of cloned and expressed human RNase H1. (PMID: 10497183) Wu H … Crooke ST (The Journal of biological chemistry 1999) 3 4 23 54
  3. Cloning, expression, and mapping of ribonucleases H of human and mouse related to bacterial RNase HI. (PMID: 9799596) Cerritelli SM … Crouch RJ (Genomics 1998) 3 4 23 54
  4. RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy. (PMID: 26094573) Reyes A … Zeviani M (American journal of human genetics 2015) 3 4 54
  5. Human senataxin resolves RNA/DNA hybrids formed at transcriptional pause sites to promote Xrn2-dependent termination. (PMID: 21700224) Skourti-Stathaki K … Gromak N (Molecular cell 2011) 3 4 54

Products for RNASEH1 Gene

Sources for RNASEH1 Gene