ENDOV
Description
The ENDOV (endonuclease V) is a protein-coding gene located on chromosome 17.
Endonuclease V (endoV) is a highly conserved endonuclease enzyme family. The primary function of endoV differs significantly in prokaryotes and eukaryotes, as suggested by studies on the E. coli and human orthologs. In prokaryotes endoV is primarily a deoxyribonuclease involved in DNA repair of deoxyinosine introduced into the genome by deamidation of adenine bases (EC 3.1.21.7). However, it has broad substrate specificity and can also act on other types of DNA lesions as well as on inosine-containing RNA. In eukaryotes endoV is primarily a ribonuclease and cleaves single-stranded RNA at the 3' position relative to an inosine base, which may be present due to RNA editing by deaminase enzymes (EC 3.1.26.-).
[Isoform 1]: Endoribonuclease that specifically cleaves inosine-containing RNAs: cleaves RNA at the second phosphodiester bond 3' to inosine (PubMed:23912683, PubMed:23912718, PubMed:27573237, PubMed:31703097, PubMed:25195743). Active against both single-stranded and double-stranded RNAs (PubMed:31703097, PubMed:25195743). Has strong preference for single-stranded RNAs (ssRNAs) toward double-stranded RNAs (dsRNAs) (PubMed:23912718). Cleaves mRNAs and tRNAs containing inosine (PubMed:23912683, PubMed:31703097). Also able to cleave structure-specific dsRNA substrates containing the specific sites 5'- IIUI-3' and 5'-UIUU-3' (PubMed:23912718, PubMed:27573237). Inosine is present in a number of RNAs following editing; the function of inosine- specific endoribonuclease is still unclear: it could either play a regulatory role in edited RNAs, or be involved in antiviral response by removing the hyperedited long viral dsRNA genome that has undergone A- to-I editing (Probable). Binds branched DNA structures (PubMed:23139746). {ECO:0000269|PubMed:23139746, ECO:0000269|PubMed:23912683, ECO:0000269|PubMed:23912718, ECO:0000269|PubMed:25195743, ECO:0000269|PubMed:27573237, ECO:0000269|PubMed:31703097, ECO:0000305}
ENDOV is also known as -.
Associated Diseases
- Moyamoya disease
- isolated asymptomatic elevation of creatine phosphokinase
- pentosuria
- myopathy due to calsequestrin and SERCA1 protein overload
- congenital lethal erythroderma
- metabolic myopathy due to lactate transporter defect
- xeroderma pigmentosum
- cancer
- Cowden syndrome 1
- glioblastoma
- Cockayne syndrome