Human Gene REST (uc003hch.3) Description and Page Index
Description: Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA. RefSeq Summary (NM_005612): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.130457.1, SRR1803615.176357.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000309042.12/ ENSP00000311816.7 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr4:57,774,042-57,802,010 Size: 27,969 Total Exon Count: 4 Strand: + Coding Region Position: hg19 chr4:57,776,805-57,798,318 Size: 21,514 Coding Exon Count: 3
ID:REST_HUMAN DESCRIPTION: RecName: Full=RE1-silencing transcription factor; AltName: Full=Neural-restrictive silencer factor; AltName: Full=X2 box repressor; FUNCTION: Transcriptional repressor which binds neuron-restrictive silencer element (NRSE) and represses neuronal gene transcription in non-neuronal cells. Restricts the expression of neuronal genes by associating with two distinct corepressors, mSin3 and CoREST, which in turn recruit histone deacetylase to the promoters of REST-regulated genes. Mediates repression by recruiting the BHC complex at RE1/NRSE sites which acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier. SUBUNIT: Interacts with SIN3A, SIN3B and RCOR1. INTERACTION: P51532:SMARCA4; NbExp=2; IntAct=EBI-926706, EBI-302489; SUBCELLULAR LOCATION: Nucleus (Probable). TISSUE SPECIFICITY: Ubiquitous. Expressed at higher levels in the tissues of the lymphocytic compartment, including spleen, thymus, peripheral blood lymphocytes and ovary. SIMILARITY: Contains 9 C2H2-type zinc fingers. SEQUENCE CAUTION: Sequence=AAA98503.1; Type=Frameshift; Positions=188, 198, 202, 212, 1087; Sequence=AAC50114.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAC50115.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH38985.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAD92987.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Genetic Association Studies of Complex Diseases and Disorders
Bleomycin Jian Gu et al. Human molecular genetics 2011, A genetic variant near the PMAIP1/Noxa gene is associated with increased bleomycin sensitivity., Human molecular genetics.
Body Height Hana Lango Allen et al. Nature 2010, Hundreds of variants clustered in genomic loci and biological pathways affect human height., Nature.
cognitive ability F Miyajima , et al. Genes, brain, and behavior 2008 7(7):714-9, Additive effect of BDNF and REST polymorphisms is associated with improved general cognitive ability., Genes, brain, and behavior 2008 7(7):714-9.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q13127
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001046 core promoter sequence-specific DNA binding GO:0001047 core promoter binding GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0003676 nucleic acid binding GO:0003677 DNA binding GO:0003682 chromatin binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0004407 histone deacetylase activity GO:0005515 protein binding GO:0008134 transcription factor binding GO:0015271 outward rectifier potassium channel activity GO:0044212 transcription regulatory region DNA binding GO:0046872 metal ion binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0002244 hematopoietic progenitor cell differentiation GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006366 transcription from RNA polymerase II promoter GO:0008285 negative regulation of cell proliferation GO:0010629 negative regulation of gene expression GO:0032348 negative regulation of aldosterone biosynthetic process GO:0035690 cellular response to drug GO:0043065 positive regulation of apoptotic process GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043922 negative regulation by host of viral transcription GO:0045665 negative regulation of neuron differentiation GO:0045892 negative regulation of transcription, DNA-templated GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0045955 negative regulation of calcium ion-dependent exocytosis GO:0046676 negative regulation of insulin secretion GO:0050768 negative regulation of neurogenesis GO:0060379 cardiac muscle cell myoblast differentiation GO:0070933 histone H4 deacetylation GO:0071257 cellular response to electrical stimulus GO:0071385 cellular response to glucocorticoid stimulus GO:0071805 potassium ion transmembrane transport GO:2000065 negative regulation of cortisol biosynthetic process GO:2000706 negative regulation of dense core granule biogenesis GO:2000740 negative regulation of mesenchymal stem cell differentiation GO:2000798 negative regulation of amniotic stem cell differentiation