CNOT1

Chr 16q21

CCR4-NOT transcription complex subunit 1

Aliases:: CDC39, NOT1H, KIAA1007, AD-005
MANE:: ENST00000317147.10

OMIM: 604917 ↗NCBI: 23019 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CNOT1 · A5YKK6

v62025-08-01

Predicted Aligned Error matrix for CNOT1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.1/ 100

Confident

2,376 residues

Confidence breakdown

Very high(≥ 90)19%
Confident(70–90)58%
Low(50–70)7%
Very low(< 50)17%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Holoprosencephaly
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neonatal diabetes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

holoprosencephaly 12 with or without pancreatic agenesis
0.75
Vissers-Bodmer syndrome
0.68
hereditary disease
0.52
complex neurodevelopmental disorder
0.47
neurodegenerative disease
0.47
Neurodevelopmental delay
0.46
neurodevelopmental disorder
0.40
Global developmental delay
0.37
schizophrenia
0.31
Intellectual disability
0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

CCR4-NOT transcription complex subunit 1

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. Plays a role in rapid sperm motility via mediating timely mRNA turnover (By similarity)