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

Gene ID: 5978, updated on 24-Nov-2020

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

Genomic context

See REST in Genome Data Viewer
Location:
4q12
Exon count:
5
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (56907900..56935847)
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 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
Compare labs
FIBROMATOSIS, GINGIVAL, 5
MedGen: C4539942 OMIM: 617626 GeneReviews: Not available
Compare labs
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

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 
histone H4 deacetylation IDA
Inferred from Direct Assay
more info
PubMed 
modification of synaptic structure ISS
Inferred from Sequence or Structural Similarity
more info
 
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 population 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of neuron differentiation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of neuron differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of oxidative stress-induced neuron death IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
negative regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
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 
neuronal stem cell population maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
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 neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of oxidative stress-induced neuron death ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of stem cell population maintenance IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of alternative mRNA splicing, via spliceosome ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of gene expression IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of osteoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of oxidative stress-induced neuron death ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
response to hypoxia IDA
Inferred from Direct Assay
more info
PubMed 
response to ischemia ISS
Inferred from Sequence or Structural Similarity
more info
 
somatic stem cell population maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 
transcription repressor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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 109.20201120

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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