CNOT3

CNOT3 (CCR4-NOT Transcription Complex Subunit 3) is a Protein Coding gene. Diseases associated with CNOT3 include Precursor T-Cell Acute Lymphoblastic Leukemia and Retrograde Amnesia. Among its related pathways are Gene Expression and Deadenylation-dependent mRNA decay.

Full Name

CCR4-NOT Transcription Complex Subunit 3

Function

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.

Biological Process

DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest Source: Reactome
Gene silencing by RNA Source: UniProtKB-KW
Nuclear-transcribed mRNA poly(A) tail shortening Source: GO_Central
Positive regulation of cold-induced thermogenesis Source: YuBioLab
Regulation of stem cell population maintenance Source: UniProtKB
Regulation of transcription, DNA-templated Source: InterPro
Regulation of translation Source: UniProtKB-KW
Trophectodermal cell differentiation Source: Ensembl

Cellular Location

Cytoplasm; Nucleus; P-body. NANOS2 promotes its localization to P-body.

Involvement in disease

Intellectual developmental disorder with speech delay, autism and dysmorphic facies (IDDSADF):
An autosomal dominant disorder characterized by mild to severe intellectual disability, developmental delay, delayed or absent speech, hypotonia, short stature, autistic features, and highly variable dysmorphic facial features.