CNOT1

CNOT1 (CCR4-NOT Transcription Complex Subunit 1) is a Protein Coding gene. Diseases associated with CNOT1 include Iritis. Among its related pathways are Gene Expression and Deadenylation-dependent mRNA decay. Gene Ontology (GO) annotations related to this gene include protein domain specific binding.

Full Name

CCR4-NOT Transcription Complex Subunit 1

Function

Scaffolding 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. Its scaffolding function implies its interaction with the catalytic complex module and diverse RNA-binding proteins mediating the complex recruitment to selected mRNA 3'UTRs. Involved in degradation of AU-rich element (ARE)-containing mRNAs probably via association with ZFP36. Mediates the recruitment of the CCR4-NOT complex to miRNA targets and to the RISC complex via association with TNRC6A, TNRC6B or TNRC6C. Acts as a transcriptional repressor. Represses the ligand-dependent transcriptional activation by nuclear receptors. 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 miRNA Source: BHF-UCL
Negative regulation of intracellular estrogen receptor signaling pathway Source: UniProtKB
Negative regulation of retinoic acid receptor signaling pathway Source: UniProtKB
Negative regulation of transcription by RNA polymerase II Source: UniProtKB
Negative regulation of translation Source: BHF-UCL
Nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay Source: GO_Central
Nuclear-transcribed mRNA poly(A) tail shortening Source: Reactome
Positive regulation of cytoplasmic mRNA processing body assembly Source: UniProtKB
Positive regulation of mRNA catabolic process Source: BHF-UCL
Positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay Source: UniProtKB
Positive regulation of nuclear-transcribed mRNA poly(A) tail shortening Source: BHF-UCL
Regulation of stem cell population maintenance Source: UniProtKB
RNA phosphodiester bond hydrolysis, exonucleolytic Source: GOC
Trophectodermal cell differentiation Source: Ensembl

Cellular Location

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

Involvement in disease

Holoprosencephaly 12 with or without pancreatic agenesis (HPE12):
An autosomal dominant form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. HPE12 clinical features include abnormal forebrain development, dysmorphic features, global developmental delay, learning difficulties, and congenital absence of the pancreas in most patients, resulting in early-onset insulin-dependent diabetes mellitus. Other features may include hearing loss and absence of the gallbladder.
Vissers-Bodmer syndrome (VIBOS):
An autosomal dominant disorder characterized by global developmental delay, intellectual disability of varying degree, speech delay, motor delay, and hypotonia. Abnormal growth, and cerebral, skeletal, muscle and soft tissue abnormalities are frequently observed. Many patients have behavioral problems, including anxiety, obsessive compulsive disorder, autism spectrum disorder and attention-deficit hyperactivity disorder.