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

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; AllianceGenome:HGNC:9966
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: mouse all
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Genomic context

Location:: 4q12

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (56907900..56935844)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (60399324..60427254)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (57774066..57802010)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A neurodegeneration checkpoint mediated by REST protects against the onset of Alzheimer's disease.
Title: A neurodegeneration checkpoint mediated by REST protects against the onset of Alzheimer's disease.
REST Is Not Resting: REST/NRSF in Health and Disease.
Title: REST Is Not Resting: REST/NRSF in Health and Disease.
Genome-wide Association Studies of REST Gene Associated Neurological Diseases/traits with Related Single Nucleotide Polymorphisms.
Title: Genome-wide Association Studies of REST Gene Associated Neurological Diseases/traits with Related Single Nucleotide Polymorphisms.
Repressor Element-1 Binding Transcription Factor (REST) as a Possible Epigenetic Regulator of Neurodegeneration and MicroRNA-Based Therapeutic Strategies.
Title: Repressor Element-1 Binding Transcription Factor (REST) as a Possible Epigenetic Regulator of Neurodegeneration and MicroRNA-Based Therapeutic Strategies.
REST in the Road Map of Brain Development.
Title: REST in the Road Map of Brain Development.
NRSF regulates age-dependently cognitive ability and its conditional knockout in APP/PS1 mice moderately alters AD-like pathology.
Title: NRSF regulates age-dependently cognitive ability and its conditional knockout in APP/PS1 mice moderately alters AD-like pathology.
DNA methylation alterations at RE1-silencing transcription factor binding sites and their flanking regions in cancer.
Title: DNA methylation alterations at RE1-silencing transcription factor binding sites and their flanking regions in cancer.
REST contributes to AKI-to-CKD transition through inducing ferroptosis in renal tubular epithelial cells.
Title: REST contributes to AKI-to-CKD transition through inducing ferroptosis in renal tubular epithelial cells.
CRISPR/Cas9-based genome-wide screening of the deubiquitinase subfamily identifies USP3 as a protein stabilizer of REST blocking neuronal differentiation and promotes neuroblastoma tumorigenesis.
Title: CRISPR/Cas9-based genome-wide screening of the deubiquitinase subfamily identifies USP3 as a protein stabilizer of REST blocking neuronal differentiation and promotes neuroblastoma tumorigenesis.
REST/NRSF Silencing Modifies Neuronal Gene Expression in siRNA-Treated HeLa Cells: A Preliminary Exploration in the Search for Neuronal Biomarkers of Cervical Cancer.
Title: REST/NRSF Silencing Modifies Neuronal Gene Expression in siRNA-Treated HeLa Cells: A Preliminary Exploration in the Search for Neuronal Biomarkers of Cervical Cancer.

Submit: New GeneRIF Correction See all GeneRIFs (192)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal dominant nonsyndromic hearing loss 27 MedGen: C3887929 OMIM: 612431 GeneReviews: Not available	Compare labs
Fibromatosis, gingival, 5 MedGen: C4539942 OMIM: 617626 GeneReviews: Not available	Compare labs
Wilms tumor 6 MedGen: C3891301 OMIM: 616806 GeneReviews: Wilms Tumor Predisposition	Compare labs

EBI GWAS Catalog

Description
A genetic variant near the PMAIP1/Noxa gene is associated with increased bleomycin sensitivity. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-U22314 (e-PCR)
- UniSTS:3382

SHGC-59569 (e-PCR)
- UniSTS:3474

SHGC-35370 (e-PCR)
- UniSTS:154

NoName (e-PCR)
- UniSTS:168889

RH65065 (e-PCR)
- UniSTS:86751

REST__5483 (e-PCR)
- UniSTS:463860

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
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
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 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 cellular response to xenobiotic stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromatin remodeling	ISS Inferred from Sequence or Structural Similarity more info
involved_in hematopoietic progenitor cell differentiation	IEA Inferred from Electronic Annotation more info
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 DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA-templated transcription	NAS Non-traceable Author Statement 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 miRNA transcription	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
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 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 nervous system process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuronal stem cell population maintenance	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
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 programmed cell 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
involved_in regulation of DNA-templated transcription	NAS Non-traceable Author Statement 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 osteoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
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
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
part_of transcription repressor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

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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

NG_029447.1 RefSeqGene

Range

5025..32969

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001193508.1 → NP_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

A2RUE0, B9EGJ0, Q12956, Q12957, Q13127, Q13134, Q59ER1, Q8IWI3

UniProtKB/TrEMBL

A0A6Q8PH19

Conserved Domains (4) summary

COG5048
Location:302 → 381

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:278 → 298

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:318 → 343

zf-H2C2_2; Zinc-finger double domain

cl28087
Location:599 → 767

FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
NM_001363453.2 → NP_001350382.1 RE1-silencing transcription factor

Status: REVIEWED

Source sequence(s)

AC069307

Consensus CDS

CCDS3509.1

UniProtKB/Swiss-Prot

A2RUE0, B9EGJ0, Q12956, Q12957, Q13127, Q13134, Q59ER1, Q8IWI3

UniProtKB/TrEMBL

A0A6Q8PH19

Related

ENSP00000502313.1, ENST00000675105.1

Conserved Domains (4) summary

COG5048
Location:302 → 381

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:278 → 298

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:318 → 343

zf-H2C2_2; Zinc-finger double domain

cl28087
Location:599 → 767

FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
NM_005612.5 → NP_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

A2RUE0, B9EGJ0, Q12956, Q12957, Q13127, Q13134, Q59ER1, Q8IWI3

UniProtKB/TrEMBL

A0A6Q8PH19

Related

ENSP00000311816.7, ENST00000309042.12

Conserved Domains (4) summary

COG5048
Location:302 → 381

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:278 → 298

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:318 → 343

zf-H2C2_2; Zinc-finger double domain

cl28087
Location:599 → 767

FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

56907900..56935844

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017008527.2 → XP_016864016.1 RE1-silencing transcription factor isoform X1

UniProtKB/TrEMBL

A0A1W2PQA1, A0A6Q8PH19

Related

ENSP00000492006.2, ENST00000638187.2
XM_047416053.1 → XP_047272009.1 RE1-silencing transcription factor isoform X1

UniProtKB/TrEMBL

A0A1W2PQA1

Alternate T2T-CHM13v2.0

Genomic

NC_060928.1 Alternate T2T-CHM13v2.0

Range

60399324..60427254

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054350677.1 → XP_054206652.1 RE1-silencing transcription factor isoform X1

UniProtKB/TrEMBL

A0A1W2PQA1
XM_054350678.1 → XP_054206653.1 RE1-silencing transcription factor isoform X1

UniProtKB/TrEMBL

A0A1W2PQA1