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Aliases for RNASEH1 Gene

Aliases for RNASEH1 Gene

  • Ribonuclease H1 2 3
  • RNase H1 2 3 4
  • Ribonuclease H Type II 3 4
  • RNH1 3 4
  • EC 3.1.26.4 4
  • H1RNA 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 is necessary for DNA replication and repair. This enzyme is present in both mitochondria and nuclei, which are resulted from translation of a single mRNA with two in-frame initiation start codons. The use of the first start codon produces the mitochondrial isoform and the use of the second start codon produces the nuclear isoform. The production of the mitochondrial isoform is modulated by an upstream open reading frame (uORF) which overlaps the first initiation start codon in human. An alternately spliced transcript variant has been found which encodes a shorter isoform. This gene has three pseudogenes; two of them are at different locations of chromosome 17 and one of them is on chromosome 1q32.2. [provided by RefSeq, Sep 2014]

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 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy. Among its related pathways are Lagging Strand Synthesis. 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNASEH1 Gene

Genomics for RNASEH1 Gene

Regulatory Elements for RNASEH1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for RNASEH1 Gene

Chromosome:
2
Start:
3,531,813 bp from pter
End:
3,558,616 bp from pter
Size:
26,804 bases
Orientation:
Minus strand

Genomic View for RNASEH1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds 1 Mg(2+) ion per subunit. May bind a second metal ion at a regulatory site, or after substrate binding.;
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for RNASEH1 Gene

neXtProt entry for RNASEH1 Gene

Proteomics data for RNASEH1 Gene at MOPED

Post-translational modifications for RNASEH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RNASEH1 Gene

Antibody Products

No data available for DME Specific Peptides for RNASEH1 Gene

Domains & Families for RNASEH1 Gene

Protein Domains for RNASEH1 Gene

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 :
  • Contains 1 RNase H domain.
  • Belongs to the RNase H family.
Domain:
  • Contains 1 RNase H domain.
Family:
  • Belongs to the RNase H family.
genes like me logo Genes that share domains with RNASEH1: view

No data available for Gene Families for RNASEH1 Gene

Function for RNASEH1 Gene

Molecular function for RNASEH1 Gene

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

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:0004523 RNA-DNA hybrid ribonuclease activity IDA 21700224
GO:0004540 ribonuclease activity TAS 9799596
genes like me logo Genes that share ontologies with RNASEH1: view
genes like me logo Genes that share phenotypes with RNASEH1: view

Animal Models for RNASEH1 Gene

MGI Knock Outs for RNASEH1:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RNASEH1

In Situ Assay Products

Flow Cytometry Products

No data available for 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
Jensen Localization Image for RNASEH1 Gene COMPARTMENTS Subcellular localization image for RNASEH1 gene
Compartment Confidence
cytoskeleton 2
cytosol 2
mitochondrion 2
nucleus 2

Gene Ontology (GO) - Cellular Components for RNASEH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with RNASEH1: view

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:0090501 RNA phosphodiester bond hydrolysis TAS 9799596
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ribose Experimental Pharma 0
Manganese Pharma 30
Magnesium Nutra 0
alanine Nutra 97

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

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

Transcripts for RNASEH1 Gene

Unigene Clusters for RNASEH1 Gene

Ribonuclease H1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RNASEH1

Flow Cytometry 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
ECgene alternative splicing isoforms for
RNASEH1

Expression for RNASEH1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for RNASEH1 Gene



SOURCE GeneReport for Unigene cluster for RNASEH1 Gene Hs.568006

mRNA Expression by UniProt/SwissProt for RNASEH1 Gene

O60930-RNH1_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expression patterns with RNASEH1: view

Protein tissue co-expression partners for RNASEH1 Gene

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia RNASEH1 35
  • 82.02 (n)
  • 80 (a)
-- 36
  • 79 (a)
OneToMany
dog
(Canis familiaris)
Mammalia RNASEH1 35
  • 84.98 (n)
  • 82.75 (a)
-- 36
  • 81 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Rnaseh1 35
  • 78.71 (n)
  • 78.25 (a)
Rnaseh1 16
Rnaseh1 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RNASEH1 35
  • 99.42 (n)
  • 99.65 (a)
RNASEH1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rnaseh1 35
  • 78.52 (n)
  • 77.82 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 68 (a)
ManyToMany
-- 36
  • 59 (a)
ManyToMany
chicken
(Gallus gallus)
Aves RNASEH1 35
  • 65.8 (n)
  • 63.7 (a)
RNASEH1 36
  • 58 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 50 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rnaseh1 35
  • 62.44 (n)
  • 60 (a)
Str.3464 35
zebrafish
(Danio rerio)
Actinopterygii Dr.16522 35
rnaseh1 35
  • 61.69 (n)
  • 58.06 (a)
rnaseh1 36
  • 51 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta rnh1 37
  • 35 (a)
rnh1 35
  • 47.6 (n)
  • 40.91 (a)
rnh1 36
  • 30 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008088 35
  • 48.89 (n)
  • 44.71 (a)
worm
(Caenorhabditis elegans)
Secernentea rnh-1.0 35
  • 54.11 (n)
  • 46.32 (a)
rnh-1.0 36
  • 42 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL017C 35
  • 42.9 (n)
  • 38.11 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RNH1 36
  • 21 (a)
OneToMany
RNH1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToMany
Species with no ortholog for RNASEH1:
  • 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)

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 Sequence Context AA Info Type MAF
rs1071625 -- 3,532,170(-) TGCTC(A/G)AAGTG nc-transcript-variant
rs1129241 -- 3,531,995(-) CTGTC(C/T)CCAGA nc-transcript-variant
rs4072374 -- 3,539,381(+) CTTCC(C/T)GTATC intron-variant
rs4072375 -- 3,539,691(+) ATGTC(A/G)GCTCA intron-variant
rs4595985 -- 3,533,924(+) aaaga(C/T)agcct nc-transcript-variant, intron-variant

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

Variant ID Type Subtype PubMed ID
nsv873590 CNV Loss 21882294
nsv819972 CNV Gain 19587683

Variation tolerance for RNASEH1 Gene

Residual Variation Intolerance Score: 23.89% 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)

Relevant External Links for RNASEH1 Gene

HapMap Linkage Disequilibrium report
RNASEH1
Human Gene Mutation Database (HGMD)
RNASEH1

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

Disorders for RNASEH1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RNASEH1 Gene - From: OMIM and Orphanet

Relevant External Links for RNASEH1

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

No data available for UniProtKB/Swiss-Prot and 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. (Mol. Cell 2007) 2 23 67
  2. R loops stimulate genetic instability of CTG.CAG repeats. (PMID: 20080737) Lin Y. … Napierala M. (Proc. Natl. Acad. Sci. U.S.A. 2010) 23 67
  3. Ataxia telangiectasia mutated activation by transcription- and topoisomerase I-induced DNA double-strand breaks. (PMID: 19557000) Sordet O. … Pommier Y. (EMBO Rep. 2009) 23 67
  4. Retroviral integrase superfamily: the structural perspective. (PMID: 19165139) Nowotny M. (EMBO Rep. 2009) 23 67
  5. Reduction of gene expression by a hairpin-loop structured oligodeoxynucleotide: alternative to siRNA and antisense. (PMID: 19505533) Kwok T. … Moelling K. (Biochim. Biophys. Acta 2009) 23 67

Products for RNASEH1 Gene

Sources for RNASEH1 Gene

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