CNOT1 Chromosome 16

CCR4-NOT transcription complex subunit 1

35 variants 35 Health Risk

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What This Gene Does

Enables armadillo repeat domain binding activity; molecular adaptor activity; and nuclear receptor binding activity. Contributes to poly(A)-specific ribonuclease activity. Involved in several processes, including negative regulation of intracellular signal transduction; positive regulation of cytoplasmic mRNA processing body assembly; and regulation of gene expression. Located in P-body and cytosol. Part of CCR4-NOT complex. Implicated in Vissers-Bodmer syndrome and holoprosencephaly 12. [provided by Alliance of Genome Resources, Jul 2025]

Gene Info

Gene Group

"CCR4-NOT transcription complex|Armadillo like helical domain containing|Small nucleolar RNA protein coding host genes|MIF4G domain containing proteins"

Locus Type

gene with protein product

Location

16q21

Ensembl

ENSG00000125107

Associated Conditions (10)

CNOT1-related disorder

Inborn genetic diseases

Vissers-Bodmer syndrome

Holoprosencephaly 12 with or without pancreatic agenesis

See cases

Alopecia-intellectual disability syndrome 4

Neurodevelopmental delay

Intellectual disability

Holoprosencephaly sequence

Nuerodevelopment disorder

Key Variants

RS112226008

Conflicting classifications of pathogenicity

Health Risk

RS139302890

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS142749838

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS147682800

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS1567396193

Conflicting classifications of pathogenicity

Vissers-Bodmer syndrome, Vissers-Bodmer syndrome

Health Risk

RS201713384

Conflicting classifications of pathogenicity

Inborn genetic diseases, Holoprosencephaly 12 with or without pancreatic agenesis, Inborn genetic diseases

Health Risk

RS2040115763

Conflicting classifications of pathogenicity

Health Risk

RS2151984285

Conflicting classifications of pathogenicity

See cases, Vissers-Bodmer syndrome, See cases

Health Risk

RS5817153

Conflicting classifications of pathogenicity

Health Risk

RS754113666

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS770425261

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS2040286240

Likely pathogenic

Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4

Health Risk

All Variants (35)

RSID	Category	Clinical Significance	Conditions
RS112226008	Health Risk	Conflicting classifications of pathogenicity	CNOT1-related disorder, Inborn genetic diseases, CNOT1-related disorder
RS139302890	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS142749838	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS147682800	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS1567396193	Health Risk	Conflicting classifications of pathogenicity	Vissers-Bodmer syndrome, Vissers-Bodmer syndrome
RS201713384	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Holoprosencephaly 12 with or without pancreatic agenesis, Inborn genetic diseases
RS2040115763	Health Risk	Conflicting classifications of pathogenicity	—
RS2151984285	Health Risk	Conflicting classifications of pathogenicity	See cases, Vissers-Bodmer syndrome, See cases
RS5817153	Health Risk	Conflicting classifications of pathogenicity	CNOT1-related disorder, Holoprosencephaly 12 with or without pancreatic agenesis, CNOT1-related disorder
RS754113666	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS770425261	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS2040286240	Health Risk	Likely pathogenic	Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4
RS2042382246	Health Risk	Likely pathogenic	Vissers-Bodmer syndrome, Vissers-Bodmer syndrome
RS2151901930	Health Risk	Likely pathogenic	Vissers-Bodmer syndrome, Vissers-Bodmer syndrome
RS2151901942	Health Risk	Likely pathogenic	Neurodevelopmental delay, Neurodevelopmental delay
RS2151904583	Health Risk	Likely pathogenic	—
RS2151940462	Health Risk	Likely pathogenic	Intellectual disability, Intellectual disability
RS2151976617	Health Risk	Likely pathogenic	Vissers-Bodmer syndrome, Vissers-Bodmer syndrome
RS2543786983	Health Risk	Likely pathogenic	—
RS2543899540	Health Risk	Likely pathogenic	—
RS2543913794	Health Risk	Likely pathogenic	CNOT1-related disorder, CNOT1-related disorder
RS2543913901	Health Risk	Likely pathogenic	Vissers-Bodmer syndrome, Holoprosencephaly 12 with or without pancreatic agenesis, Vissers-Bodmer syndrome
RS2543916472	Health Risk	Likely pathogenic	Vissers-Bodmer syndrome, Vissers-Bodmer syndrome
RS2543955657	Health Risk	Likely pathogenic	CNOT1-related disorder, CNOT1-related disorder
RS2544111033	Health Risk	Likely pathogenic	Vissers-Bodmer syndrome, Vissers-Bodmer syndrome
RS1567417422	Health Risk	Pathogenic	Holoprosencephaly sequence, Holoprosencephaly 12 with or without pancreatic agenesis, Vissers-Bodmer syndrome
RS2040599000	Health Risk	Pathogenic	Vissers-Bodmer syndrome, Vissers-Bodmer syndrome
RS2042382430	Health Risk	Pathogenic	Vissers-Bodmer syndrome, Vissers-Bodmer syndrome
RS2151918356	Health Risk	Pathogenic	Neurodevelopmental delay, Neurodevelopmental delay
RS2151924068	Health Risk	Pathogenic	Neurodevelopmental delay, Neurodevelopmental delay
RS2151980137	Health Risk	Pathogenic	—
RS2543937637	Health Risk	Pathogenic	Vissers-Bodmer syndrome, Vissers-Bodmer syndrome
RS2544075614	Health Risk	Pathogenic	Nuerodevelopment disorder, Nuerodevelopment disorder
RS2544111453	Health Risk	Pathogenic	Vissers-Bodmer syndrome, Vissers-Bodmer syndrome
RS1597562609	Health Risk	Pathogenic/Likely pathogenic	See cases, Vissers-Bodmer syndrome, Inborn genetic diseases