CNOT1 - CCR4-NOT transcription complex subunit 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23019

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
Molecular Function GO Annotation Evidence References Source
enables armadillo repeat domain binding IPI
IPI: Inferred from physical interaction
24768540 GOA
enables molecular adaptor activity IDA
IDA: Inferred from direct assay
22977175 GOA
enables nuclear estrogen receptor binding IDA
IDA: Inferred from direct assay
16778766 GOA
enables nuclear retinoic acid receptor binding IDA
IDA: Inferred from direct assay
16778766 GOA
contributes to poly(A)-specific ribonuclease activity IDA
IDA: Inferred from direct assay
21976065 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10637334 GOA
enables protein domain specific binding IPI
IPI: Inferred from physical interaction
24768540 GOA
Cellular Component GO Annotation Evidence References Source
part of CCR4-NOT complex IDA
IDA: Inferred from direct assay
19558367 GOA
located in P-body IDA
IDA: Inferred from direct assay
21976065 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CNOT1 Protein Structure

DUF3819

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

Not1

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

  • 0
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  • 1600
  • 2000
  • 2376 a.a.
Protein Preferred Names Protein Names

CCR4-NOT transcription complex subunit 1

  • CCR4-associated factor 1

CNOT1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CNOT1 A5YKK6 CNOT6L Homo sapiens Q96LI5 26496610
Intra
CNOT1 A5YKK6 CNOT6L Homo sapiens Q96LI5 17452450
Intra
CNOT1 A5YKK6 CNOT6 Homo sapiens Q9ULM6 26496610
Intra
CNOT1 A5YKK6 CNOT6 Homo sapiens Q9ULM6 17452450
Intra
CNOT1 A5YKK6 CNOT7 Homo sapiens Q9UIV1 26496610
Intra
CNOT1 A5YKK6 CNOT7 Homo sapiens Q9UIV1 21278420
Intra
CNOT1 A5YKK6 CNOT7 Homo sapiens Q9UIV1 22977175
Intra
CNOT1 A5YKK6 ANXA2R Homo sapiens Q3ZCQ2 30833792
Intra
CNOT1 A5YKK6 ANXA2R Homo sapiens Q3ZCQ2 30833792
Intra
CNOT1 A5YKK6 TNRC6A Homo sapiens Q8NDV7 21981923
Intra
CNOT1 A5YKK6 CNOT11 Homo sapiens Q9UKZ1 26496610
Intra
CNOT1 A5YKK6 TNRC6C Homo sapiens Q9HCJ0-1 23463101
Cross
CNOT1 A5YKK6 Zfp36 Mus musculus P22893 21278420
Intra
CNOT1 A5YKK6 TNRC6C Homo sapiens Q9HCJ0 21981923
Intra
CNOT1 A5YKK6 TOB1 Homo sapiens P50616
TAP
18377426
Intra
CNOT1 A5YKK6 TOB1 Homo sapiens P50616 26496610
Intra
CNOT1 A5YKK6 TOB1 Homo sapiens P50616 18377426
Intra
CNOT1 A5YKK6 CNOT8 Homo sapiens Q9UFF9 22977175
Intra
CNOT1 A5YKK6 CNOT8 Homo sapiens Q9UFF9 26496610
Intra
CNOT1 A5YKK6 CNOT2 Homo sapiens Q9NZN8 26496610
Intra
CNOT1 A5YKK6 CNOT3 Homo sapiens O75175 26496610
Intra
CNOT1 A5YKK6 TNRC6B Homo sapiens Q9UPQ9 21981923
Cross: Cross-species interaction Intra: Intraspecies interaction

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
Others CNOT1 NCBI