1. Gene
  2. CNOT1 - CCR4-NOT transcription complex subunit 1 Gene

CNOT1 - CCR4-NOT transcription complex subunit 1 Gene

Homo sapiens

Also known as NOT1; CDC39; HPE12; NOT1H; VIBOS; AD-005

Gene ID: 23019 | Gene type: protein coding

About CNOT1

Cytogenetic location: 16q21 Genomic coordinates (GRCh38): 16:58,519,951-58,629,826 (from NCBI)

This gene has 22 transcripts (splice variants), 215 orthologues and is associated with 5 phenotypes. Ubiquitous expression in testis (RPKM 56.3), esophagus (RPKM 28.6) and 25 other tissues.

Summary

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 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 holoprosencephaly. [provided by Alliance of Genome Resources, Apr 2022]

CNOT1 Products(3)

mRNA Protein Name
NM_001265612.2 NP_001252541.1 CCR4-NOT transcription complex subunit 1 isoform c
NM_016284.5 NP_057368.3 CCR4-NOT transcription complex subunit 1 isoform a
NM_206999.3 NP_996882.1 CCR4-NOT transcription complex subunit 1 isoform b

CNOT1 Protein Structure

DUF3819

DUF3819: Domain of unknown function (DUF3819) (1386 - 1535)

Not1

Not1: CCR4-Not complex component, Not1 (1996 - 2358)

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  • 2376 a.a.
Protein Preferred Names Protein Names

CCR4-NOT transcription complex subunit 1

CCR4-associated factor 1

Related Diseases

Diseases Alias
Holoprosencephaly 12 With Or Without Pancreatic Agenesis

HPE12

Holoprosencephaly 12, With Or Without Pancreatic Agenesis

Pancreatic Agenesis-Holoprosencephaly Syndrome

Vissers-Bodmer Syndrome

VIBOS

Alopecia-Intellectual Disability Syndrome 4

Alopecia-Mental Retardation Syndrome 4

APMR4

Pancreatic Agenesis

Partial Pancreatic Agenesis

Congenital Pancreatic Agenesis

Partial Agenesis Of The Pancreas

Agenesis, Pancreatic

Pancreatic Agenesis, Congenital

Holoprosencephaly

Holoprosencephaly Sequence

Hpe

Hpe - [Holoprosencephaly]

Spermatogenic Failure 11

SPGF11

Anemia, Congenital Dyserythropoietic, Type Ia

Congenital Dyserythropoietic Anemia Type I

Cda I

CDAN1A

Congenital Dyserythropoietic Anemia Type 1

Congenital Dyserythropoietic Anemia Type Ia

Congenital Dyserythropoietic Anemia, Type I

Anemia, Congenital Dyserythropoietic, Type I

Cda Type 1

Cda Type I

Cda Ia

Dyserythropoietic Anemia, Congenital Type 1

Anemia, Congenital Dyserythropoietic, Type 1a

Dyserythropoietic Anemia, Congenital, Type Ia

Cda, Type Ia

Congenital Dyserythropoietic Anaemia Type 1

Congenital Dyserythropoietic Anaemia Type I

Anemia, Dyserythropoietic, Congenital Type 1

Type I Congenital Dyserythropoietic Anemia

Anemia, Congenital Dyserythropoietic, 1a

Anemia, Dyserythropoietic, Congenital, Type Ia

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

Gaucher Disease, Type Ii

GD2

Gd Ii

Gaucher Disease, Acute Neuronopathic Type

Gaucher Disease Type 2

Gaucher Disease Type Ii

Gaucher'S Disease Type Ii

Infantile Cerebral Gaucher Disease

Acute Neuronopathic Gaucher Disease

Gd 2

Gaucher Disease, Infantile Cerebral

Gaucher Disease 2

Type 2 Gaucher Disease

Gaucher Disease, Type 2

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta CNOT1 VGNC VGNC:71386
Felis catus CNOT1 VGNC VGNC:68516
Bos taurus CNOT1 VGNC VGNC:27514
Rattus norvegicus CNOT1 RGD RGD:1308009
Mus musculus CNOT1 MGD MGI:2442402
Canis familiaris CNOT1 VGNC VGNC:39410