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

Gene ID: 5978, updated on 26-May-2016
Official Symbol
RESTprovided by HGNC
Official Full Name
RE1 silencing transcription factorprovided by HGNC
Primary source
HGNC:HGNC:9966
See related
Ensembl:ENSG00000084093 HPRD:08990; MIM:600571; Vega:OTTHUMG00000128770
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; NRSF
Summary
This gene encodes a transcriptional repressor that represses neuronal genes in non-neuronal tissues. It 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 regular of neurogenesis. Alternatively spliced transcript variants have been described [provided by RefSeq, Jul 2010]
Orthologs
Location:
4q12
Exon count:
8
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 4 NC_000004.12 (56907876..56935845)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (57774042..57802010)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377668 Neighboring gene serine peptidase inhibitor, Kazal type 2 Neighboring gene nitric oxide associated 1 Neighboring gene polymerase (RNA) II subunit B Neighboring gene uncharacterized LOC105377669

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genetic variant near the PMAIP1/Noxa gene is associated with increased bleomycin sensitivity.
NHGRI GWA Catalog
Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog
  • Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
    Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
  • Chromatin organization, organism-specific biosystem (from REACTOME)
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  • Huntington's disease, organism-specific biosystem (from KEGG)
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  • Huntington's disease, conserved biosystem (from KEGG)
    Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
  • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
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  • Signaling pathways regulating pluripotency of stem cells, organism-specific biosystem (from KEGG)
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Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cardiac muscle cell myoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to drug IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to electrical stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to glucocorticoid stimulus IDA
Inferred from Direct Assay
more info
PubMed 
hematopoietic progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
histone H4 deacetylation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation by host of viral transcription IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of aldosterone biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of amniotic stem cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of calcium ion-dependent exocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cortisol biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of dense core granule biogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of insulin secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of mesenchymal stem cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of neurogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of neuron differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
chromatin IEA
Inferred from Electronic Annotation
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 
transcriptional repressor complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
RE1-silencing transcription factor
Names
RE1-silencing transcription factor variant E1a/E2/E3/E4c
RE1-silencing transcription factor variant E1a/E2/E3/E5
RE1-silencing transcription factor variant E1a/E2/E3/N3a/E4i
RE1-silencing transcription factor variant E1a/E2/E3/N3c/E4
RE1-silencing transcription factor variant E1a/E2/E4
RE1-silencing transcription factor variant E1a/E2/E5
RE1-silencing transcription factor variant E1a/E2a/E2k
RE1-silencing transcription factor variant E1a/E2d/E4g
RE1-silencing transcription factor variant E1a/E2e/E4h
RE1-silencing transcription factor variant E1a/E2f/E4e
RE1-silencing transcription factor variant E1a/E2k/E2i/E3/E4j
RE1-silencing transcription factor variant E1b/E2/E3/E5
RE1-silencing transcription factor variant E1b/E2/E3/N3b/E4i
RE1-silencing transcription factor variant E1b/E2/E3/N3c/E4
RE1-silencing transcription factor variant E1b/E2a/E2k
RE1-silencing transcription factor variant E1b/E2c/E2j/E3/E4
RE1-silencing transcription factor variant E1b/E2e/E4h
RE1-silencing transcription factor variant E1c/E2/E3/E5
RE1-silencing transcription factor variant E1c/E2a/E2k
RE1-silencing transcription factor variant E1c/E2g/E3/E4
neural-restrictive silencer factor
neuron restrictive silencer factor
neuron-restrictive silencer factor
repressor binding to the X2 box

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
    5001..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

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB209750, AC069307
    Consensus CDS
    CCDS3509.1
    UniProtKB/Swiss-Prot
    Q13127
    Related
    ENSP00000484836, ENST00000619101
    Conserved Domains (3) summary
    COG5048
    Location:302381
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam13465
    Location:318343
    zf-H2C2_2; Zinc-finger double domain
    sd00017
    Location:278298
    ZF_C2H2; C2H2 Zn finger [structural motif]
  2. NM_005612.4NP_005603.3  RE1-silencing transcription factor

    See identical proteins and their annotated locations for NP_005603.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC069307, BC136491
    Consensus CDS
    CCDS3509.1
    UniProtKB/Swiss-Prot
    Q13127
    Related
    ENSP00000311816, OTTHUMP00000158972, ENST00000309042, OTTHUMT00000250691
    Conserved Domains (3) summary
    COG5048
    Location:302381
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam13465
    Location:318343
    zf-H2C2_2; Zinc-finger double domain
    sd00017
    Location:278298
    ZF_C2H2; C2H2 Zn finger [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p2 Primary Assembly

    Range
    56907876..56935845
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265760.2XP_005265817.1  

    Conserved Domains (2) summary
    pfam13465
    Location:121
    zf-H2C2_2; Zinc-finger double domain
    sd00017
    Location:1232
    ZF_C2H2; C2H2 Zn finger [structural motif]
  2. XM_011534401.1XP_011532703.1  

    See identical proteins and their annotated locations for XP_011532703.1

    UniProtKB/Swiss-Prot
    Q13127
    Conserved Domains (3) summary
    COG5048
    Location:302381
    COG5048; FOG: Zn-finger [General function prediction only]
    pfam13465
    Location:318343
    zf-H2C2_2; Zinc-finger double domain
    sd00017
    Location:278298
    ZF_C2H2; C2H2 Zn finger [structural motif]
  3. XM_011534402.1XP_011532704.1  

    Conserved Domains (2) summary
    PRK10263
    Location:273441
    PRK10263; DNA translocase FtsK; Provisional
    sd00017
    Location:829
    ZF_C2H2; C2H2 Zn finger [structural motif]

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 Alternate CHM1_1.1

    Range
    57809465..57837418
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)