Aliases for CNOT1 Gene

Aliases for CNOT1 Gene

  • CCR4-NOT Transcription Complex Subunit 1 2 3 4 5
  • CDC39 2 3 4
  • NOT1H 2 3 4
  • Negative Regulator Of Transcription Subunit 1 Homolog 3 4
  • CCR4-Associated Factor 1 3 4
  • KIAA1007 2 4
  • AD-005 2 3
  • NOT1 3 4
  • NOT1 (Negative Regulator Of Transcription 1, Yeast) Homolog 3
  • CCR4-NOT Transcription Complex, Subunit 1 2
  • Adrenal Gland Protein AD-005 3
  • HPE12 3
  • CNOT1 5
  • HNOT1 4

External Ids for CNOT1 Gene

Previous HGNC Symbols for CNOT1 Gene

  • NOT1

Previous GeneCards Identifiers for CNOT1 Gene

  • GC00U990233
  • GC16M057112
  • GC16M058553
  • GC16M044421

Summaries for CNOT1 Gene

GeneCards Summary for CNOT1 Gene

CNOT1 (CCR4-NOT Transcription Complex Subunit 1) is a Protein Coding gene. Diseases associated with CNOT1 include Holoprosencephaly 12 With Or Without Pancreatic Agenesis and Pancreatic Agenesis-Holoprosencephaly Syndrome. Among its related pathways are Deadenylation-dependent mRNA decay and Gene Expression. Gene Ontology (GO) annotations related to this gene include protein domain specific binding.

UniProtKB/Swiss-Prot Summary for CNOT1 Gene

  • 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.

Gene Wiki entry for CNOT1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CNOT1 Gene

Genomics for CNOT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CNOT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CNOT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CNOT1

Top Transcription factor binding sites by QIAGEN in the CNOT1 gene promoter:
  • ATF
  • CBF(2)
  • CBF-A
  • CBF-B
  • En-1
  • HNF-4alpha1
  • PPAR-gamma1
  • PPAR-gamma2
  • YY1

Genomic Locations for CNOT1 Gene

Genomic Locations for CNOT1 Gene
chr16:58,519,951-58,629,885
(GRCh38/hg38)
Size:
109,935 bases
Orientation:
Minus strand
chr16:58,553,855-58,663,790
(GRCh37/hg19)
Size:
109,936 bases
Orientation:
Minus strand

Genomic View for CNOT1 Gene

Genes around CNOT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNOT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNOT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNOT1 Gene

Proteins for CNOT1 Gene

  • Protein details for CNOT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A5YKK6-CNOT1_HUMAN
    Recommended name:
    CCR4-NOT transcription complex subunit 1
    Protein Accession:
    A5YKK6
    Secondary Accessions:
    • Q68DX7
    • Q7Z3K2
    • Q8IWB8
    • Q8TB53
    • Q9BVZ6
    • Q9UFR8
    • Q9UI27
    • Q9Y2L0

    Protein attributes for CNOT1 Gene

    Size:
    2376 amino acids
    Molecular mass:
    266939 Da
    Quaternary structure:
    • Component of the CCR4-NOT complex; distinct complexes seem to exist that differ in the participation of probably mutually exclusive catalytic subunits (PubMed:10637334, PubMed:16778766, PubMed:19558367, PubMed:22977175). In the complex, interacts directly with CNOT6, CNOT6L, CNOT7 or CNOT8 (PubMed:10637334, PubMed:16778766, PubMed:22977175). Interacts in a ligand-dependent fashion with ESR1 and RXRA (PubMed:16778766). Interacts with NANOS2, TOB1 and ZFP36 (PubMed:18377426, PubMed:21278420, PubMed:23644599). Interacts with TNRC6A, TNRC6B or TNRC6C; the interactions are direct (PubMed:21981923, PubMed:21984185). Interacts with YTHDF2; the interaction is direct and promotes recruitment of the CCR4-NOT complex to N6-methyladenosine (m6A)-containing mRNAs, leading to their deadenylation and subsequent degradation (PubMed:27558897).
    SequenceCaution:
    • Sequence=AAF14861.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=CAH18093.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CNOT1 Gene

    Alternative splice isoforms for CNOT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNOT1 Gene

Post-translational modifications for CNOT1 Gene

  • Ubiquitination at Lys1163 and Lys2086
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CNOT1 Gene

Domains & Families for CNOT1 Gene

Gene Families for CNOT1 Gene

Suggested Antigen Peptide Sequences for CNOT1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ32365 fis, clone PUAEN1000161, highly similar to Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 2, mRNA (B3KPW6_HUMAN)
  • Negative regulator of transcription subunit 1 homolog (CNOT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A5YKK6

UniProtKB/Swiss-Prot:

CNOT1_HUMAN :
  • Contains Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs, a motif known to be important for the association with nuclear receptors.
  • Belongs to the CNOT1 family.
Domain:
  • Contains Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs, a motif known to be important for the association with nuclear receptors.
Family:
  • Belongs to the CNOT1 family.
genes like me logo Genes that share domains with CNOT1: view

Function for CNOT1 Gene

Molecular function for CNOT1 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for CNOT1 Gene

Gene Ontology (GO) - Molecular Function for CNOT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0004535 contributes_to poly(A)-specific ribonuclease activity IDA 21976065
GO:0005515 protein binding IPI 10637334
GO:0019904 protein domain specific binding IPI 24768540
GO:0030331 estrogen receptor binding IDA 16778766
genes like me logo Genes that share ontologies with CNOT1: view
genes like me logo Genes that share phenotypes with CNOT1: view

Human Phenotype Ontology for CNOT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNOT1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CNOT1 Gene

Localization for CNOT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNOT1 Gene

Cytoplasm, P-body. Nucleus. Note=NANOS2 promotes its localization to P-body. {ECO:0000250 UniProtKB:Q6ZQ08}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CNOT1 gene
Compartment Confidence
cytosol 5
extracellular 4
peroxisome 4
nucleus 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CNOT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000932 P-body ISS --
GO:0005615 extracellular space HDA 22664934
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CNOT1: view

Pathways & Interactions for CNOT1 Gene

genes like me logo Genes that share pathways with CNOT1: view

Gene Ontology (GO) - Biological Process for CNOT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 16778766
GO:0000288 nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay IBA 21873635
GO:0000289 nuclear-transcribed mRNA poly(A) tail shortening TAS --
GO:0006417 regulation of translation IEA --
GO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest TAS --
genes like me logo Genes that share ontologies with CNOT1: view

No data available for SIGNOR curated interactions for CNOT1 Gene

Drugs & Compounds for CNOT1 Gene

No Compound Related Data Available

Transcripts for CNOT1 Gene

mRNA/cDNA for CNOT1 Gene

3 REFSEQ mRNAs :
26 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNOT1

Alternative Splicing Database (ASD) splice patterns (SP) for CNOT1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^
SP1: - - - - - - -
SP2: - - - - - - -
SP3:
SP4: - - - - - - -
SP5: - - - - - - - - - - - - - - - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: - - - - -
SP13: - - - -
SP14:
SP15:
SP16: - - - - -
SP17:
SP18: - - -
SP19: - - - - - -
SP20: - - -

ExUns: 17a · 17b · 17c ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35a ·
SP1: -
SP2:
SP3: -
SP4:
SP5: - - - - - - - - -
SP6:
SP7: - - - - - - - - - - - - -
SP8:
SP9: -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:

ExUns: 35b · 35c ^ 36 ^ 37 ^ 38 ^ 39 ^ 40a · 40b ^ 41 ^ 42a · 42b ^ 43 ^ 44 ^ 45a · 45b · 45c ^ 46a · 46b ^ 47a · 47b ^ 48a · 48b ^ 49 ^ 50 ^ 51 ^ 52 ^
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4:
SP5: - - - - - - - - - - - - - - - - - - - -
SP6: - -
SP7: - - - - - - - -
SP8:
SP9:
SP10: -
SP11: - -
SP12:
SP13:
SP14: -
SP15: -
SP16:
SP17:
SP18:
SP19:
SP20:

ExUns: 53 ^ 54 ^ 55 ^ 56 ^ 57a · 57b · 57c ·
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:

Relevant External Links for CNOT1 Gene

GeneLoc Exon Structure for
CNOT1

Expression for CNOT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CNOT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CNOT1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.1), Lymph node (7.8), and Bone (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CNOT1 Gene



Protein tissue co-expression partners for CNOT1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CNOT1

SOURCE GeneReport for Unigene cluster for CNOT1 Gene:

Hs.460923

mRNA Expression by UniProt/SwissProt for CNOT1 Gene:

A5YKK6-CNOT1_HUMAN
Tissue specificity: Strongly expressed in brain, heart, thymus, spleen, kidney, liver, placenta and lung. Weakly expressed in skeletal muscle and colon.

Evidence on tissue expression from TISSUES for CNOT1 Gene

  • Nervous system(4.9)
  • Adrenal gland(4.4)
  • Intestine(3.7)
  • Kidney(3.4)
  • Lung(3.4)
  • Stomach(3.2)
  • Liver(3.1)
  • Skin(3.1)
  • Heart(2.9)
  • Spleen(2.9)
  • Muscle(2.8)
  • Eye(2.8)
  • Bone marrow(2.7)
  • Thyroid gland(2.7)
  • Lymph node(2.6)
  • Blood(2.5)
  • Pancreas(2)
  • Bone(2)
genes like me logo Genes that share expression patterns with CNOT1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CNOT1 Gene

Orthologs for CNOT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CNOT1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CNOT1 30 31
  • 99.87 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CNOT1 31
  • 98 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 98 (a)
OneToMany
-- 31
  • 86 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia CNOT1 30 31
  • 95.26 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CNOT1 30 31
  • 95.06 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cnot1 30 17 31
  • 92.35 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cnot1 30
  • 91.75 (n)
Chicken
(Gallus gallus)
Aves -- 31
  • 100 (a)
OneToMany
CNOT1 30 31
  • 86.15 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia CNOT1 31
  • 95 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cnot1 30
  • 80.41 (n)
Zebrafish
(Danio rerio)
Actinopterygii cnot1 30 31
  • 77.76 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8458 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009057 30
  • 55.05 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Not1 30 31
  • 53.53 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea let-711 30 31
  • 51.32 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC39 31 33
  • 26 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G02080 30
  • 50.16 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.11667 30
Rice
(Oryza sativa)
Liliopsida Os10g0556801 30
  • 51.04 (n)
Os.4089 30
Barley
(Hordeum vulgare)
Liliopsida Hv.4407 30
Wheat
(Triticum aestivum)
Liliopsida Ta.5541 30
Corn
(Zea mays)
Liliopsida Zm.7360 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6570 31
  • 60 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3300 30
Species where no ortholog for CNOT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for CNOT1 Gene

ENSEMBL:
Gene Tree for CNOT1 (if available)
TreeFam:
Gene Tree for CNOT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CNOT1: view image

Paralogs for CNOT1 Gene

No data available for Paralogs for CNOT1 Gene

Variants for CNOT1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CNOT1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
689631 Uncertain Significance: not provided 58,528,584(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
711650 Benign: not provided 58,553,868(-) C/A INTRON_VARIANT
711651 Benign: not provided 58,582,808(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
712846 Benign: not provided 58,551,829(-) T/A INTRON_VARIANT
771017 Likely Benign: not provided 58,542,564(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for CNOT1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CNOT1 Gene

Variant ID Type Subtype PubMed ID
dgv482n67 CNV loss 20364138
dgv497e199 CNV deletion 23128226
dgv5151n54 CNV loss 21841781
dgv5152n54 CNV gain 21841781
dgv5153n54 CNV gain+loss 21841781
dgv5154n54 CNV gain 21841781
dgv5155n54 CNV loss 21841781
dgv5156n54 CNV loss 21841781
dgv5157n54 CNV gain 21841781
dgv59e180 CNV gain 20482838
esv2032869 CNV deletion 18987734
esv2466145 CNV insertion 19546169
esv24929 CNV gain 19812545
esv2546975 CNV deletion 19546169
esv2614548 CNV deletion 19546169
esv2714553 CNV deletion 23290073
esv2714554 CNV deletion 23290073
esv2714555 CNV deletion 23290073
esv2714556 CNV deletion 23290073
esv2758650 CNV loss 17122850
esv32972 CNV gain+loss 17666407
esv3553495 CNV deletion 23714750
esv3638729 CNV loss 21293372
esv4241 CNV loss 18987735
nsv103378 CNV deletion 16902084
nsv103597 CNV deletion 16902084
nsv1071009 CNV deletion 25765185
nsv1113813 CNV deletion 24896259
nsv1126430 CNV deletion 24896259
nsv507819 OTHER sequence alteration 20534489
nsv509623 CNV insertion 20534489
nsv510686 CNV deletion 20534489
nsv511049 OTHER complex 20534489
nsv512440 CNV loss 21212237
nsv514806 CNV loss 21397061
nsv521338 CNV loss 19592680
nsv572769 CNV gain+loss 21841781
nsv572788 CNV loss 21841781
nsv819144 CNV gain 19587683
nsv821034 CNV deletion 20802225
nsv827687 CNV loss 20364138
nsv9448 CNV gain 18304495
nsv958053 CNV deletion 24416366

Variation tolerance for CNOT1 Gene

Residual Variation Intolerance Score: 0.464% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.12; 38.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CNOT1 Gene

Human Gene Mutation Database (HGMD)
CNOT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNOT1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNOT1 Gene

Disorders for CNOT1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for CNOT1 Gene - From: UniProtKB/Swiss-Prot, OMIM, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
holoprosencephaly 12 with or without pancreatic agenesis
  • hpe12
pancreatic agenesis-holoprosencephaly syndrome
pancreatic agenesis
  • partial pancreatic agenesis
holoprosencephaly
  • holoprosencephaly sequence
childhood spinal muscular atrophy
  • spinal muscular atrophies of childhood
- elite association - COSMIC cancer census association via MalaCards
Search CNOT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CNOT1_HUMAN
  • Holoprosencephaly 12 with or without pancreatic agenesis (HPE12) [MIM:618500]: 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. {ECO:0000269 PubMed:31006510, ECO:0000269 PubMed:31006513}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CNOT1

genes like me logo Genes that share disorders with CNOT1: view

No data available for Genatlas for CNOT1 Gene

Publications for CNOT1 Gene

  1. A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development. (PMID: 31006513) De Franco E … Barroso I (American journal of human genetics 2019) 3 4
  2. A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly. (PMID: 31006510) Kruszka P … Muenke M (American journal of human genetics 2019) 3 4
  3. YTHDF2 destabilizes m(6)A-containing RNA through direct recruitment of the CCR4-NOT deadenylase complex. (PMID: 27558897) Du H … Wu L (Nature communications 2016) 3 4
  4. Structural basis for the recruitment of the human CCR4-NOT deadenylase complex by tristetraprolin. (PMID: 23644599) Fabian MR … Sonenberg N (Nature structural & molecular biology 2013) 3 4
  5. Cnot1, Cnot2, and Cnot3 maintain mouse and human ESC identity and inhibit extraembryonic differentiation. (PMID: 22367759) Zheng X … Hu G (Stem cells (Dayton, Ohio) 2012) 3 4

Products for CNOT1 Gene

Sources for CNOT1 Gene