DISEASES

Disease-gene associations mined from literature

Literature associating RNASEL and Noonan syndrome 9

RNASEL [ENSP00000356530]

Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent); Endoribonuclease that functions in the interferon (IFN) antiviral response. In INF treated and virus infected cells, RNASEL probably mediates its antiviral effects through a combination of direct cleavage of single-stranded viral RNAs, inhibition of protein synthesis through the degradation of rRNA, induction of apoptosis, and induction of other antiviral genes. RNASEL mediated apoptosis is the result of a JNK-dependent stress- response pathway leading to cytochrome c release from mitochondria and caspase-dependent apoptosis. Therefore, activation of RNASEL could lead to elimination of virus infected cells under some circumstances. In the crosstalk between autophagy and apoptosis proposed to induce autophagy as an early stress response to small double-stranded RNA and at later stages of prolonged stress to activate caspase-dependent proteolytic cleavage of BECN1 to terminate autophagy and promote apoptosis. Might play a central role in the regulation of mRNA turnover. Cleaves 3' of UpNp dimers, with preference for UU and UA sequences, to sets of discrete products ranging from between 4 and 22 nucleotides in length; Ankyrin repeat domain containing

Synonyms:  RNASEL,  DKFZP781D08126,  Q05823,  Q6AI46,  Q05823p ...

Linkouts:  STRING  Pharos  UniProt  OMIM