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CNOT3 CCR4-NOT transcription complex subunit 3 [ Homo sapiens (human) ]

Gene ID: 4849, updated on 24-Nov-2020

Summary

Official Symbol
CNOT3provided by HGNC
Official Full Name
CCR4-NOT transcription complex subunit 3provided by HGNC
Primary source
HGNC:HGNC:7879
See related
Ensembl:ENSG00000088038 MIM:604910
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NOT3; LENG2; NOT3H; IDDSADF
Expression
Ubiquitous expression in testis (RPKM 13.9), spleen (RPKM 9.7) and 25 other tissues See more
Orthologs

Genomic context

See CNOT3 in Genome Data Viewer
Location:
19q13.42
Exon count:
20
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (54137689..54155690)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (54641436..54659446)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NADH:ubiquinone oxidoreductase subunit A3 Neighboring gene TCF3 fusion partner Neighboring gene pre-mRNA processing factor 31 Neighboring gene uncharacterized LOC102724273 Neighboring gene leukocyte receptor cluster member 1 Neighboring gene transmembrane channel like 4 Neighboring gene uncharacterized LOC112268246 Neighboring gene membrane bound O-acyltransferase domain containing 7

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES
MedGen: C5231456 OMIM: 618672 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2018-06-27)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2018-06-27)

ClinGen Genome Curation Page

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0691

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest TAS
Traceable Author Statement
more info
 
RNA phosphodiester bond hydrolysis, exonucleolytic IEA
Inferred from Electronic Annotation
more info
 
gene silencing by RNA IEA
Inferred from Electronic Annotation
more info
 
nuclear-transcribed mRNA poly(A) tail shortening IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear-transcribed mRNA poly(A) tail shortening TAS
Traceable Author Statement
more info
 
positive regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of stem cell population maintenance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of stem cell population maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
trophectodermal cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
CCR4-NOT complex IDA
Inferred from Direct Assay
more info
PubMed 
CCR4-NOT core complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
P-body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
P-body ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
CCR4-NOT transcription complex subunit 3
Names
CCR4-associated factor 3
NOT3 (negative regulator of transcription 3, yeast) homolog
leukocyte receptor cluster member 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_014516.4NP_055331.1  CCR4-NOT transcription complex subunit 3

    See identical proteins and their annotated locations for NP_055331.1

    Status: VALIDATED

    Source sequence(s)
    AC245052
    Consensus CDS
    CCDS12880.1
    UniProtKB/Swiss-Prot
    O75175
    UniProtKB/TrEMBL
    A0A024R4R3
    Related
    ENSP00000221232.5, ENST00000221232.11
    Conserved Domains (2) summary
    COG5665
    Location:12751
    COG5665; CCR4-NOT transcriptional regulation complex, NOT5 subunit [Transcription]
    pfam04065
    Location:3229
    Not3; Not1 N-terminal domain, CCR4-Not complex component

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    54137689..54155690
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005278280.2XP_005278337.1  CCR4-NOT transcription complex subunit 3 isoform X1

    See identical proteins and their annotated locations for XP_005278337.1

    Conserved Domains (2) summary
    COG5665
    Location:12769
    COG5665; CCR4-NOT transcriptional regulation complex, NOT5 subunit [Transcription]
    pfam04065
    Location:3230
    Not3; Not1 N-terminal domain, CCR4-Not complex component
  2. XM_005278279.2XP_005278336.1  CCR4-NOT transcription complex subunit 3 isoform X1

    See identical proteins and their annotated locations for XP_005278336.1

    Conserved Domains (2) summary
    COG5665
    Location:12769
    COG5665; CCR4-NOT transcriptional regulation complex, NOT5 subunit [Transcription]
    pfam04065
    Location:3230
    Not3; Not1 N-terminal domain, CCR4-Not complex component
  3. XM_005278282.3XP_005278339.1  CCR4-NOT transcription complex subunit 3 isoform X4

    See identical proteins and their annotated locations for XP_005278339.1

    Conserved Domains (2) summary
    COG5665
    Location:12752
    COG5665; CCR4-NOT transcriptional regulation complex, NOT5 subunit [Transcription]
    pfam04065
    Location:3230
    Not3; Not1 N-terminal domain, CCR4-Not complex component
  4. XM_005278281.2XP_005278338.1  CCR4-NOT transcription complex subunit 3 isoform X2

    See identical proteins and their annotated locations for XP_005278338.1

    Conserved Domains (2) summary
    COG5665
    Location:12768
    COG5665; CCR4-NOT transcriptional regulation complex, NOT5 subunit [Transcription]
    pfam04065
    Location:3229
    Not3; Not1 N-terminal domain, CCR4-Not complex component
  5. XM_011526992.2XP_011525294.1  CCR4-NOT transcription complex subunit 3 isoform X3

    See identical proteins and their annotated locations for XP_011525294.1

    Conserved Domains (2) summary
    COG5665
    Location:12722
    COG5665; CCR4-NOT transcriptional regulation complex, NOT5 subunit [Transcription]
    pfam04065
    Location:3230
    Not3; Not1 N-terminal domain, CCR4-Not complex component
  6. XM_011526993.3XP_011525295.1  CCR4-NOT transcription complex subunit 3 isoform X5

    See identical proteins and their annotated locations for XP_011525295.1

    Conserved Domains (2) summary
    pfam04065
    Location:3230
    Not3; Not1 N-terminal domain, CCR4-Not complex component
    cl02384
    Location:625678
    NOT2_3_5; NOT2 / NOT3 / NOT5 family

RNA

  1. XR_002958318.1 RNA Sequence

  2. XR_254515.3 RNA Sequence

  3. XR_002958319.1 RNA Sequence

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003571054.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    112591..130531
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NW_003571055.2 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    112591..130532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NW_003571056.2 Reference GRCh38.p13 ALT_REF_LOCI_3

    Range
    112591..130532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NW_003571057.2 Reference GRCh38.p13 ALT_REF_LOCI_4

    Range
    112591..130532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NW_003571058.2 Reference GRCh38.p13 ALT_REF_LOCI_5

    Range
    112591..130532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NW_003571059.2 Reference GRCh38.p13 ALT_REF_LOCI_6

    Range
    112591..130532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NW_003571060.1 Reference GRCh38.p13 ALT_REF_LOCI_7

    Range
    112591..130532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_8

Genomic

  1. NW_003571061.2 Reference GRCh38.p13 ALT_REF_LOCI_8

    Range
    112591..130532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_9

Genomic

  1. NT_187693.1 Reference GRCh38.p13 ALT_REF_LOCI_9

    Range
    112591..130532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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