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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 cartilage-hair hypoplasia and mitochondrial disorders. Among its related pathways are DNA strand elongation and Telomere C-strand (Lagging Strand) Synthesis. GO annotations related to this gene include RNA binding and nucleic acid 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

Genomic Location for RNASEH1 Gene

Start:
3,544,793 bp from pter
End:
3,558,616 bp from pter
Size:
13,824 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

No data available for DME Specific Peptides for RNASEH1 Gene

Domains 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 :
  • O60930
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:

miRNA for RNASEH1 Gene

No data available for Transcription Factor Targeting 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
mitochondrion 2
nucleus 2
peroxisome 2
extracellular 1

Gene Ontology (GO) - Cellular Components for RNASEH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with RNASEH1: view

Pathways 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:0006264 mitochondrial DNA replication IEA --
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

Compounds for RNASEH1 Gene

(2) HMDB Compounds for RNASEH1 Gene

Compound Synonyms Cas Number PubMed IDs
Magnesium
  • Magnesium
7439-95-4
Manganese
  • manganese
7439-96-5

(6) Novoseek inferred chemical compound relationships for RNASEH1 Gene

Compound -log(P) Hits PubMed IDs
deoxyribonucleotide 79.9 1
oligoribonucleotide 69.6 1
carboxylate 53.9 1
ribose 44.7 2
oligonucleotide 20 1
genes like me logo Genes that share compounds with RNASEH1: view

Transcripts for RNASEH1 Gene

Unigene Clusters for RNASEH1 Gene

Ribonuclease H1:
Representative Sequences:

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

Integrated Proteomics: protein expression 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 expressions with RNASEH1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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 35
  • 99.42 (n)
  • 99.65 (a)
RNASEH1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 79 (a)
OneToMany
RNASEH1 35
  • 82.02 (n)
  • 80 (a)
dog
(Canis familiaris)
Mammalia -- 36
  • 81 (a)
OneToMany
RNASEH1 35
  • 84.98 (n)
  • 82.75 (a)
mouse
(Mus musculus)
Mammalia Rnaseh1 35
  • 78.71 (n)
  • 78.25 (a)
Rnaseh1 16
Rnaseh1 36
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 68 (a)
ManyToMany
-- 36
  • 59 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Rnaseh1 35
  • 78.52 (n)
  • 77.82 (a)
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
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008088 35
  • 48.89 (n)
  • 44.71 (a)
fruit fly
(Drosophila melanogaster)
Insecta rnh1 35
  • 47.6 (n)
  • 40.91 (a)
rnh1 36
  • 30 (a)
OneToMany
rnh1 37
  • 35 (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
rs4849986 -- 3,554,818(+) GGAAA(A/G)AGCCA intron-variant
rs6730125 -- 3,550,977(+) ATAGA(A/G)GGTAT intron-variant
rs6730126 -- 3,550,978(+) TAGAG(A/C/G)GTATG intron-variant
rs6730137 -- 3,551,001(+) AGGCT(A/G)TAAAG intron-variant
rs6737419 -- 3,545,111(+) TTGCA(C/T)AGTTT utr-variant-3-prime, nc-transcript-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

Relevant External Links for RNASEH1 Gene

HapMap Linkage Disequilibrium report
RNASEH1

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

Disorders for RNASEH1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for RNASEH1 Gene including...

Search for RNASEH1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for RNASEH1 Gene

Relevant External Links for RNASEH1

Genetic Association Database (GAD)
RNASEH1
Human Genome Epidemiology (HuGE) Navigator
RNASEH1
genes like me logo Genes that share disorders with RNASEH1: view

No data available for UniProtKB/Swiss-Prot for RNASEH1 Gene

Publications for RNASEH1 Gene

  1. Cloning, expression, and mapping of ribonucleases H of human and mouse related to bacterial RNase HI. (PMID: 9799596) Cerritelli S.M. … Crouch R.J. (Genomics 1998) 3 4 23
  2. Properties of cloned and expressed human RNase H1. (PMID: 10497183) Wu H. … Crooke S.T. (J. Biol. Chem. 1999) 3 4 23
  3. 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 3 23
  4. Specific recognition of RNA/DNA hybrid and enhancement of human RNase H1 activity by HBD. (PMID: 18337749) Nowotny M. … Yang W. (EMBO J. 2008) 3 23
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48

Products for RNASEH1 Gene

Sources for RNASEH1 Gene

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