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    REST RE1 silencing transcription factor [ Homo sapiens (human) ]

    Gene ID: 5978, updated on 2-Aug-2021

    Summary

    Official Symbol
    RESTprovided by HGNC
    Official Full Name
    RE1 silencing transcription factorprovided by HGNC
    Primary source
    HGNC:HGNC:9966
    See related
    Ensembl:ENSG00000084093 MIM:600571
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    WT6; XBR; HGF5; NRSF; DFNA27; GINGF5
    Summary
    This gene was initially identified as a transcriptional repressor that represses neuronal genes in non-neuronal tissues. However, depending on the cellular context, this gene can act as either an oncogene or a tumor suppressor. The encoded protein is a member of the Kruppel-type zinc finger transcription factor family. It represses transcription by binding a DNA sequence element called the neuron-restrictive silencer element. The protein is also found in undifferentiated neuronal progenitor cells and it is thought that this repressor may act as a master negative regulator of neurogenesis. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2018]
    Expression
    Ubiquitous expression in bone marrow (RPKM 9.2), testis (RPKM 8.5) and 25 other tissues See more
    Orthologs
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    Genomic context

    See REST in Genome Data Viewer
    Location:
    4q12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (56907900..56935847)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (57774066..57802010)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 357, pseudogene Neighboring gene serine peptidase inhibitor Kazal type 2 Neighboring gene nitric oxide associated 1 Neighboring gene RNA polymerase II subunit B Neighboring gene RNA, U6 small nuclear 998, pseudogene

    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
    A genetic variant near the PMAIP1/Noxa gene is associated with increased bleomycin sensitivity.
    GeneReviews: Not available
    Deafness, autosomal dominant 27
    MedGen: C3887929 OMIM: 612431 GeneReviews: Not available
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    Fibromatosis, gingival, 5
    MedGen: C4539942 OMIM: 617626 GeneReviews: Not available
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    Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population.
    GeneReviews: Not available
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    GeneReviews: Not available
    Wilms tumor 6
    MedGen: C3891301 OMIM: 616806 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables RNA polymerase II core promoter sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables chromatin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription cis-regulatory region binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cardiac muscle cell myoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to drug IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to electrical stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to glucocorticoid stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in hematopoietic progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in histone H4 deacetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in modification of synaptic structure ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation by host of viral transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of aldosterone biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of amniotic stem cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of calcium ion-dependent exocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cortisol biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of dense core granule biogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of insulin secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of mesenchymal stem cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of neurogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of neuron differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of oxidative stress-induced neuron death IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of pri-miRNA transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of transcription, DNA-templated IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in neuronal stem cell population maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of oxidative stress-induced neuron death ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of stem cell population maintenance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of alternative mRNA splicing, via spliceosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of gene expression IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of osteoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of oxidative stress-induced neuron death ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to ischemia ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in somatic stem cell population maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of transcription repressor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of transcription repressor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    RE1-silencing transcription factor
    Names
    neural-restrictive silencer factor
    neuron restrictive silencer factor
    repressor binding to the X2 box

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_029447.1 RefSeqGene

      Range
      5025..32969
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001193508.1NP_001180437.1  RE1-silencing transcription factor

      See identical proteins and their annotated locations for NP_001180437.1

      Status: REVIEWED

      Source sequence(s)
      AB209750, AC069307
      Consensus CDS
      CCDS3509.1
      UniProtKB/Swiss-Prot
      Q13127
      Conserved Domains (4) summary
      COG5048
      Location:302381
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:278298
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:318343
      zf-H2C2_2; Zinc-finger double domain
      cl28087
      Location:599767
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
    2. NM_001363453.2NP_001350382.1  RE1-silencing transcription factor

      Status: REVIEWED

      Source sequence(s)
      AC069307
      Consensus CDS
      CCDS3509.1
      Related
      ENSP00000502313.1, ENST00000675105.1
      Conserved Domains (4) summary
      COG5048
      Location:302381
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:278298
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:318343
      zf-H2C2_2; Zinc-finger double domain
      cl28087
      Location:599767
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
    3. NM_005612.5NP_005603.3  RE1-silencing transcription factor

      See identical proteins and their annotated locations for NP_005603.3

      Status: REVIEWED

      Source sequence(s)
      AC069307, BC136491
      Consensus CDS
      CCDS3509.1
      UniProtKB/Swiss-Prot
      Q13127
      Related
      ENSP00000311816.7, ENST00000309042.12
      Conserved Domains (4) summary
      COG5048
      Location:302381
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:278298
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:318343
      zf-H2C2_2; Zinc-finger double domain
      cl28087
      Location:599767
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

      Range
      56907900..56935847
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008527.1XP_016864016.1  RE1-silencing transcription factor isoform X2

      Related
      ENSP00000492006.2, ENST00000638187.2
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