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Aliases for RNASEH1 Gene

Aliases for RNASEH1 Gene

  • Ribonuclease H1 2 3 3 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. 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 ENSG00000255767.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies 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 650.7 +0.0 16 3.1 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B RNASEH1-AS1 RNASEH1 COLEC11 RPS7
GH02J003574 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE 29.2 -17.7 -17736 3.6 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 RPS7 TRAPPC12 RNASEH1 COLEC11 ENSG00000242282 RNASEH1-AS1
GH02J003534 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 12.6 +22.4 22411 3.1 ATF1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF48 ETS1 YY1 CBX5 ENSG00000242282 ADI1 RNASEH1-AS1 COLEC11 RNASEH1 RPS7 ENSG00000255767
GH02J003602 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 10.2 -46.0 -45996 3.5 MLX ARID4B SIN3A DMAP1 YY1 FOS NFKBIZ SP3 SP5 MXD4 COLEC11 ENSG00000237370 RPS7 RNASEH1 GC02P003608
GH02J003562 Enhancer 0.9 Ensembl ENCODE 0.4 -5.4 -5431 2.4 HDGF HDAC1 ZNF146 TEAD4 TAL1 IRF4 TCF12 GATA2 NCOR1 VEZF1 RNASEH1-AS1 TRAPPC12 RPS7 RNASEH1 GC02P003569
- 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

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

Genomic Locations for RNASEH1 Gene

Genomic Locations for RNASEH1 Gene
chr2:3,531,813-3,558,616
(GRCh38/hg38)
Size:
26,804 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 secreted proteins

Suggested Antigen Peptide Sequences for RNASEH1 Gene

GenScript: Design optimal peptide antigens:

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:
Endonucleolytic cleavage to 5-phosphomonoester.
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

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
nucleus 4
mitochondrion 3
cytoskeleton 2
peroxisome 2
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for RNASEH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
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

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

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 --
GO:0090305 nucleic acid phosphodiester bond hydrolysis IEA --
GO:0090501 RNA phosphodiester bond hydrolysis IEA --
GO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved Nutra 0
Manganese Approved Nutra 37

(5) 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

Unigene Clusters for RNASEH1 Gene

Ribonuclease H1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

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
ECgene alternative splicing isoforms for
RNASEH1

Expression for RNASEH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of RNASEH1 Gene:

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 34 33
  • 99.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RNASEH1 33
  • 84.98 (n)
-- 34
  • 81 (a)
OneToMany
cow
(Bos Taurus)
Mammalia RNASEH1 33
  • 82.02 (n)
-- 34
  • 79 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Rnaseh1 16 34 33
  • 78.71 (n)
rat
(Rattus norvegicus)
Mammalia Rnaseh1 33
  • 78.52 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 68 (a)
ManyToMany
-- 34
  • 59 (a)
ManyToMany
chicken
(Gallus gallus)
Aves RNASEH1 34 33
  • 65.8 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 50 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rnaseh1 33
  • 62.44 (n)
Str.3464 33
zebrafish
(Danio rerio)
Actinopterygii rnaseh1 34 33
  • 61.69 (n)
OneToMany
Dr.16522 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008088 33
  • 48.89 (n)
fruit fly
(Drosophila melanogaster)
Insecta rnh1 34 35 33
  • 47.6 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rnh-1.0 34 33
  • 54.11 (n)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL017C 33
  • 42.9 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RNH1 36 34
  • 21 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 from dbSNP and Humsavar for RNASEH1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1057517675 external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 (PEOB2) [MIM:616479], pathogenic, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 3,549,068(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs373442996 pathogenic, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 3,550,413(-) G/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs766294940 pathogenic, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 (PEOB2) [MIM:616479] 3,550,458(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000334429 -- 3,537,934(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000342864 -- 3,558,335(-) C/T 5_prime_UTR_variant, non_coding_transcript_variant

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

(1) MalaCards diseases for RNASEH1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, 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 22 58
  2. Properties of cloned and expressed human RNase H1. (PMID: 10497183) Wu H … Crooke ST (The Journal of biological chemistry 1999) 3 4 22 58
  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 22 58
  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 58
  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 58

Products for RNASEH1 Gene

Sources for RNASEH1 Gene

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