Recombinant Human Ribonuclease H1 (RNASEH1)

Uniprot Id

O60930

Target Species

Human

Target Name

RNASEH1

Target Full Name

Ribonuclease H1

Target Function

Endonuclease that specifically degrades the RNA of RNA-DNA hybrids. 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.

Target Involvement

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 (PEOB2)

Target Subcellular Location

Cytoplasm.

Target Protein Families

RNase H family

Target Tissue Specificity

Ubiquitous.

Target Research Area

Epigenetics and Nuclear Signaling

Target Synonyms

RNASEH1; RNH1; Ribonuclease H1; RNase H1; EC 3.1.26.4; Ribonuclease H type II

Target Background

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.