DISEASES

Disease-gene associations mined from literature

Literature associating CNOT3 and Noonan syndrome 7

CNOT3 [ENSP00000351159]

CCR4-NOT transcription complex subunit 3; Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. May be involved in metabolic regulation; may be involved in recruitment of the CCR4-NOT complex to deadenylation target mRNAs involved in energy metabolism. Involved in mitotic progression and regulation of the spindle assembly checkpoint by regulating the stability of MAD1L1 mRNA. Can repress transcription and may link the CCR4-NOT complex to transcriptional regulation; the repressive function may involve histone deacetylases. Involved in the maintenance of embryonic stem (ES) cell identity. ; Belongs to the CNOT2/3/5 family.

Synonyms:  CNOT3,  CNOT3p,  hCNOT3,  A0A024R4R3,  A0A087X0F9 ...

Linkouts:  STRING  Pharos  UniProt