• Gene id: 5978

Gene Summary

• Gene Symbol: REST   Gene   UCSC   Ensembl
• Aliases: DFNA27, GINGF5, HGF5, NRSF, WT6, XBR
• Gene name: RE1 silencing transcription factor
• Alternate names: RE1-silencing transcription factor, neural-restrictive silencer factor, neuron restrictive silencer factor, repressor binding to the X2 box,
• Gene location: 4q12 (180154832: 180204029)     Exons: 13     NC_000001.11
• Gene summary(Entrez): 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 me
• OMIM: 600571

Protein Summary

• Protein general information: Q13127  
  • Name: RE1 silencing transcription factor (Neural restrictive silencer factor) (X2 box repressor)
  • Length: 1097  
  • Mass: 121872
  • Tissue specificity: Expressed in neurons of the prefrontal cortex, in hippocampal pyramidal neurons, dentate gyrus granule neurons and cerebellar Purkinje and granule neurons (at protein level) (PubMed
• Sequence:

  MATQVMGQSSGGGGLFTSSGNIGMALPNDMYDLHDLSKAELAAPQLIMLANVALTGEVNGSCCDYLVGEERQMAE
  LMPVGDNNFSDSEEGEGLEESADIKGEPHGLENMELRSLELSVVEPQPVFEASGAPDIYSSNKDLPPETPGAEDK
  GKSSKTKPFRCKPCQYEAESEEQFVHHIRVHSAKKFFVEESAEKQAKARESGSSTAEEGDFSKGPIRCDRCGYNT
  NRYDHYTAHLKHHTRAGDNERVYKCIICTYTTVSEYHWRKHLRNHFPRKVYTCGKCNYFSDRKNNYVQHVRTHTG
  ERPYKCELCPYSSSQKTHLTRHMRTHSGEKPFKCDQCSYVASNQHEVTRHARQVHNGPKPLNCPHCDYKTADRSN
  FKKHVELHVNPRQFNCPVCDYAASKKCNLQYHFKSKHPTCPNKTMDVSKVKLKKTKKREADLPDNITNEKTEIEQ
  TKIKGDVAGKKNEKSVKAEKRDVSKEKKPSNNVSVIQVTTRTRKSVTEVKEMDVHTGSNSEKFSKTKKSKRKLEV
  DSHSLHGPVNDEESSTKKKKKVESKSKNNSQEVPKGDSKVEENKKQNTCMKKSTKKKTLKNKSSKKSSKPPQKEP
  VEKGSAQMDPPQMGPAPTEAVQKGPVQVEPPPPMEHAQMEGAQIRPAPDEPVQMEVVQEGPAQKELLPPVEPAQM
  VGAQIVLAHMELPPPMETAQTEVAQMGPAPMEPAQMEVAQVESAPMQVVQKEPVQMELSPPMEVVQKEPVQIELS
  PPMEVVQKEPVKIELSPPIEVVQKEPVQMELSPPMGVVQKEPAQREPPPPREPPLHMEPISKKPPLRKDKKEKSN
  MQSERARKEQVLIEVGLVPVKDSWLLKESVSTEDLSPPSPPLPKENLREEASGDQKLLNTGEGNKEAPLQKVGAE
  EADESLPGLAANINESTHISSSGQNLNTPEGETLNGKHQTDSIVCEMKMDTDQNTRENLTGINSTVEEPVSPMLP
  PSAVEEREAVSKTALASPPATMAANESQEIDEDEGIHSHEGSDLSDNMSEGSDDSGLHGARPVPQESSRKNAKEA
  LAVKAAKGDFVCIFCDRSFRKGKDYSKHLNRHLVNVYYLEEAAQGQE

• Structural information:
  • Interpro: IPR027757  IPR036236  IPR013087  
  • Prosite: PS00028 PS50157
  • PDB: 2CZY 6DU2 6DU3
  • PDBsum: 2CZY 6DU2 6DU3
  • DIP: 35264
  • STRING: ENSP00000311816
• Other Databases: GeneCards:  REST  Malacards:  REST

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0017053	transcription repressor complex	IBA	cellular component
GO:0010468	regulation of gene expression	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0001666	response to hypoxia	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	ISS	biological process
GO:0045667	regulation of osteoblast differentiation	ISS	biological process
GO:0045666	positive regulation of neuron differentiation	ISS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0050768	negative regulation of neurogenesis	IEA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IEA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000979	RNA polymerase II core promoter sequence-specific DNA binding	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0045667	regulation of osteoblast differentiation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0050768	negative regulation of neurogenesis	IEA	biological process
GO:0060379	cardiac muscle cell myoblast differentiation	IEA	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0002244	hematopoietic progenitor cell differentiation	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0010468	regulation of gene expression	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0017053	transcription repressor complex	IEA	cellular component
GO:0035019	somatic stem cell population maintenance	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0097150	neuronal stem cell population maintenance	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045665	negative regulation of neuron differentiation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0017053	transcription repressor complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0043922	negative regulation by host of viral transcription	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:1902459	positive regulation of stem cell population maintenance	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0071385	cellular response to glucocorticoid stimulus	IDA	biological process
GO:0070933	histone H4 deacetylation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0050768	negative regulation of neurogenesis	ISS	biological process
GO:0045955	negative regulation of calcium ion-dependent exocytosis	ISS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	biological process
GO:0003682	chromatin binding	ISS	molecular function
GO:1903204	negative regulation of oxidative stress-induced neuron death	IMP	biological process
GO:0002931	response to ischemia	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IMP	cellular component
GO:2000740	negative regulation of mesenchymal stem cell differentiation	IMP	biological process
GO:2000706	negative regulation of dense core granule biogenesis	ISS	biological process
GO:2000065	negative regulation of cortisol biosynthetic process	IMP	biological process
GO:0071257	cellular response to electrical stimulus	IMP	biological process
GO:0032348	negative regulation of aldosterone biosynthetic process	IMP	biological process
GO:0010629	negative regulation of gene expression	IMP	biological process
GO:0006355	regulation of transcription, DNA-templated	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0099563	modification of synaptic structure	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0097150	neuronal stem cell population maintenance	ISS	biological process
GO:0035019	somatic stem cell population maintenance	ISS	biological process
GO:2000798	negative regulation of amniotic stem cell differentiation	IMP	biological process
GO:0060379	cardiac muscle cell myoblast differentiation	ISS	biological process
GO:0046676	negative regulation of insulin secretion	IMP	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0045892	negative regulation of transcription, DNA-templated	NAS	biological process
GO:0035690	cellular response to drug	IMP	biological process
GO:0008285	negative regulation of cell population proliferation	IMP	biological process
GO:1903223	positive regulation of oxidative stress-induced neuron death	ISS	biological process
GO:0045665	negative regulation of neuron differentiation	IMP	biological process
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0005634	nucleus	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	TAS	biological process
GO:1903203	regulation of oxidative stress-induced neuron death	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05016	Huntington disease
hsa04550	Signaling pathways regulating pluripotency of stem cells

Diseases

Associated diseases	References
Deafness, autosomal dominant	KEGG:H00604
Hereditary gingival fibromatosis	KEGG:H01250
Deafness, autosomal dominant	KEGG:H00604
Hereditary gingival fibromatosis	KEGG:H01250
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq