Rnaseh1 ribonuclease H1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rnaseh1provided by MGI
Official Full Name: ribonuclease H1provided by MGI
Primary source: MGI:MGI:1335073
See related: Ensembl:ENSMUSG00000020630 AllianceGenome:MGI:1335073
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: 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 encodes 7aa in mouse. An alternately spliced transcript variant has been found which is a candidate for nonsense-mediated mRNA decay (NMD). [provided by RefSeq, Nov 2013]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 8.3), limb E14.5 (RPKM 7.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12; 12 A2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (28699600..28709591)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (28649601..28659592)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion.
Title: Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion.
RNase H1 is necessary for the activity of DNA-like ASOs. During liver regeneration, a clone of hepatocytes that expressed RNase H1 developed and partially restored mitochondrial and liver function.
Title: Viable RNaseH1 knockout mice show RNaseH1 is essential for R loop processing, mitochondrial and liver function.
the essential role of RNase H1 in mitochondrial DNA replication is the removal of primers at the origin of replication
Title: Primer retention owing to the absence of RNase H1 is catastrophic for mitochondrial DNA replication.
translational organization of RNase H1 allows tight control of expression of RNase H1 in mitochondria, where its excess or absence can lead to cell death, without affecting the expression of the nuclear RNase H1
Title: An upstream open reading frame and the context of the two AUG codons affect the abundance of mitochondrial and nuclear RNase H1.
RNase H1 is involved in generation of mitochondrial DNA
Title: Failure to produce mitochondrial DNA results in embryonic lethality in Rnaseh1 null mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (2) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Homologs of the Rnaseh1 gene: The Rnaseh1 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, E.gossypii, and frog.
Orthologs from Annotation Pipeline: 483 organisms have orthologs with human gene Rnaseh1
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA-DNA hybrid ribonuclease activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables RNA-DNA hybrid ribonuclease activity	IDA Inferred from Direct Assay more info	PubMed
enables RNA-DNA hybrid ribonuclease activity	ISO Inferred from Sequence Orthology more info
enables RNA-DNA hybrid ribonuclease activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables endonuclease activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables magnesium ion binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nuclease activity	IEA Inferred from Electronic Annotation more info
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA replication, removal of RNA primer	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in RNA phosphodiester bond hydrolysis, endonucleolytic	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within mitochondrial DNA replication	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ribonuclease H1

Names: RNase H1

NP_001273794.1

EC 3.1.26.4

NP_035405.2

EC 3.1.26.4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001286865.1 → NP_001273794.1 ribonuclease H1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes two isoforms due to the use of alternative translation initiation codons. The longer isoform (1) is derived from the upstream AUG start codon, while the shorter isoform (2) is derived from the downstream AUG start codon. This RefSeq represents the shorter isoform (2), which is a nuclear protein (see details in PMID: 20823270).

Source sequence(s)

AI390696, BM943446, BY274268, CA554498, DV662103

Conserved Domains (2) summary

cd09280
Location:114 → 255

RNase_HI_eukaryote_like; Eukaryotic RNase H is essential and is longer and more complex than their prokaryotic counterparts

pfam01693
Location:3 → 44

Cauli_VI; Caulimovirus viroplasmin
NM_011275.3 → NP_035405.2 ribonuclease H1 isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes two isoforms due to the use of alternative translation initiation codons. The longer isoform (1) is derived from the upstream AUG start codon, while the shorter isoform (2) is derived from the downstream AUG start codon. This RefSeq represents the longer isoform (1), which is a mitochondrial protein (see details in PMID: 20823270).

Source sequence(s)

AI390696, BM943446, BY274268, CA554498, DV662103

Consensus CDS

CCDS25852.1

UniProtKB/TrEMBL

E9QLN8

Related

ENSMUSP00000020959.8, ENSMUST00000020959.9

Conserved Domains (2) summary

cd09280
Location:140 → 281

RNase_HI_eukaryote_like; Eukaryotic RNase H is essential and is longer and more complex than their prokaryotic counterparts

pfam01693
Location:29 → 70

Cauli_VI; Caulimovirus viroplasmin

RNA

NR_104608.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an internal exon and has an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AI390696, AK011680, BG084607, BY274268, CJ073105

Related

ENSMUST00000223322.2