This gene encodes a protein that is well-conserved, downregulated at birth, and with a specific role in determining neural cell differentiation. The encoded protein binds to the C-terminal domain of REST (repressor element-1 silencing transcription factor). [provided by RefSeq, Aug 2011] See more...

Aliases for RCOR1 Gene

Aliases for RCOR1 Gene

  • REST Corepressor 1 2 3 4 5
  • KIAA0071 2 4
  • COREST 2 3
  • RCOR 3 4
  • REST Corepressor 2
  • Protein CoREST 4
  • RCOR1 5

External Ids for RCOR1 Gene

Previous HGNC Symbols for RCOR1 Gene

  • RCOR

Previous GeneCards Identifiers for RCOR1 Gene

  • GC14P101050
  • GC14P102128
  • GC14P103059
  • GC14P083236

Summaries for RCOR1 Gene

Entrez Gene Summary for RCOR1 Gene

  • This gene encodes a protein that is well-conserved, downregulated at birth, and with a specific role in determining neural cell differentiation. The encoded protein binds to the C-terminal domain of REST (repressor element-1 silencing transcription factor). [provided by RefSeq, Aug 2011]

GeneCards Summary for RCOR1 Gene

RCOR1 (REST Corepressor 1) is a Protein Coding gene. Diseases associated with RCOR1 include Loeys-Dietz Syndrome 1 and Huntington Disease. Among its related pathways are Chromatin organization and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include chromatin binding and proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific. An important paralog of this gene is RCOR3.

UniProtKB/Swiss-Prot Summary for RCOR1 Gene

  • Essential component of the BHC complex, a corepressor complex that represses transcription of neuron-specific genes in non-neuronal cells. The BHC complex is recruited at RE1/NRSE sites by REST and acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier. In the BHC complex, it serves as a molecular beacon for the recruitment of molecular machinery, including MeCP2 and SUV39H1, that imposes silencing across a chromosomal interval. Plays a central role in demethylation of Lys-4 of histone H3 by promoting demethylase activity of KDM1A on core histones and nucleosomal substrates. It also protects KDM1A from the proteasome. Component of a RCOR/GFI/KDM1A/HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development and controls hematopoietic differentiation.

Gene Wiki entry for RCOR1 Gene

Additional gene information for RCOR1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RCOR1 Gene

Genomics for RCOR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RCOR1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RCOR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RCOR1

Top Transcription factor binding sites by QIAGEN in the RCOR1 gene promoter:
  • AREB6
  • C/EBPalpha
  • CHOP-10
  • Evi-1
  • ISGF-3
  • Lmo2
  • Pax-4a
  • RORalpha1
  • RP58
  • TBP

Genomic Locations for RCOR1 Gene

Genomic Locations for RCOR1 Gene
chr14:102,592,593-102,730,572
(GRCh38/hg38)
Size:
137,980 bases
Orientation:
Plus strand
chr14:103,058,998-103,196,913
(GRCh37/hg19)
Size:
137,916 bases
Orientation:
Plus strand

Genomic View for RCOR1 Gene

Genes around RCOR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RCOR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RCOR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RCOR1 Gene

Proteins for RCOR1 Gene

  • Protein details for RCOR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKL0-RCOR1_HUMAN
    Recommended name:
    REST corepressor 1
    Protein Accession:
    Q9UKL0
    Secondary Accessions:
    • J3KN32
    • Q15044
    • Q6P2I9
    • Q86VG5

    Protein attributes for RCOR1 Gene

    Size:
    485 amino acids
    Molecular mass:
    53327 Da
    Quaternary structure:
    • Interacts directly with GFI1 and GFI1B in a RCOR/GFI/KDM1A/HDAC complex. Interacts with INMS1 (By similarity). Component of a BHC histone deacetylase complex that contains HDAC1, HDAC2, HMG20B/BRAF35, KDM1A, RCOR1/CoREST and PHF21A/BHC80. The BHC complex may also contain ZMYM2, ZNF217, ZMYM3, GSE1 and GTF2I. Interacts with REST. Interacts with the SMARCE1/BAF57, suggesting that the BHC complex may recruit the ATP-dependent chromatin-remodeling SWI-SNF complex.
    • (Microbial infection) Interacts with herpes virus HSV-1 ICP0 protein; the interaction leads to the disruption of the BHC complex, thereby preventing the BHC complex from repressing transcription of viral genes.
    SequenceCaution:
    • Sequence=AAH51003.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH64495.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH64495.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RCOR1 Gene

neXtProt entry for RCOR1 Gene

Post-translational modifications for RCOR1 Gene

  • Phosphorylated by HSV-1 protein kinases in case of infection.
  • Ubiquitination at Lys421
  • Modification sites at PhosphoSitePlus

Other Protein References for RCOR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RCOR1 Gene

Domains & Families for RCOR1 Gene

Gene Families for RCOR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RCOR1 Gene

InterPro:
Blocks:
  • Myb DNA-binding domain
ProtoNet:

Suggested Antigen Peptide Sequences for RCOR1 Gene

GenScript: Design optimal peptide antigens:
  • Protein CoREST (RCOR1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UKL0

UniProtKB/Swiss-Prot:

RCOR1_HUMAN :
  • The SANT domains may bridge the nucleosomal substrates and the demethylase KDM1A.
  • Belongs to the CoREST family.
Domain:
  • The SANT domains may bridge the nucleosomal substrates and the demethylase KDM1A.
Family:
  • Belongs to the CoREST family.
genes like me logo Genes that share domains with RCOR1: view

Function for RCOR1 Gene

Molecular function for RCOR1 Gene

UniProtKB/Swiss-Prot Function:
Essential component of the BHC complex, a corepressor complex that represses transcription of neuron-specific genes in non-neuronal cells. The BHC complex is recruited at RE1/NRSE sites by REST and acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier. In the BHC complex, it serves as a molecular beacon for the recruitment of molecular machinery, including MeCP2 and SUV39H1, that imposes silencing across a chromosomal interval. Plays a central role in demethylation of Lys-4 of histone H3 by promoting demethylase activity of KDM1A on core histones and nucleosomal substrates. It also protects KDM1A from the proteasome. Component of a RCOR/GFI/KDM1A/HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development and controls hematopoietic differentiation.

Phenotypes From GWAS Catalog for RCOR1 Gene

Gene Ontology (GO) - Molecular Function for RCOR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA, IBA 17555596
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 10449787
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IBA 21873635
genes like me logo Genes that share ontologies with RCOR1: view
genes like me logo Genes that share phenotypes with RCOR1: view

Animal Models for RCOR1 Gene

MGI Knock Outs for RCOR1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RCOR1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RCOR1 Gene

Localization for RCOR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RCOR1 Gene

Nucleus. Note=Upon infection by HSV-1, it is partially translocated into the cytoplasm in an HSV-1-dependent manner.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RCOR1 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RCOR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,NAS 10449787
GO:0005654 nucleoplasm TAS --
GO:0017053 transcriptional repressor complex IBA,IDA 10734093
GO:1990391 DNA repair complex IDA 24217620
genes like me logo Genes that share ontologies with RCOR1: view

Pathways & Interactions for RCOR1 Gene

genes like me logo Genes that share pathways with RCOR1: view

Pathways by source for RCOR1 Gene

1 Qiagen pathway for RCOR1 Gene
  • Huntington's Disease Pathway
1 Cell Signaling Technology pathway for RCOR1 Gene

SIGNOR curated interactions for RCOR1 Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for RCOR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006325 chromatin organization IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0007596 blood coagulation TAS --
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with RCOR1: view

Drugs & Compounds for RCOR1 Gene

(1) Drugs for RCOR1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with RCOR1: view

Transcripts for RCOR1 Gene

mRNA/cDNA for RCOR1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RCOR1

Alternative Splicing Database (ASD) splice patterns (SP) for RCOR1 Gene

No ASD Table

Relevant External Links for RCOR1 Gene

GeneLoc Exon Structure for
RCOR1

Expression for RCOR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RCOR1 Gene

Protein differential expression in normal tissues from HIPED for RCOR1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.2), Testis (8.1), and Lung (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RCOR1 Gene



Protein tissue co-expression partners for RCOR1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RCOR1

SOURCE GeneReport for Unigene cluster for RCOR1 Gene:

Hs.510521

mRNA Expression by UniProt/SwissProt for RCOR1 Gene:

Q9UKL0-RCOR1_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for RCOR1 Gene

  • Bone marrow(4.5)
  • Nervous system(3.9)
  • Blood(2.7)
  • Skin(2.6)
  • Intestine(2.3)
  • Lung(2.2)
  • Kidney(2.2)
  • Liver(2.2)
  • Muscle(2.1)
  • Heart(2.1)
  • Lymph node(2.1)
  • Eye(2)
genes like me logo Genes that share expression patterns with RCOR1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RCOR1 Gene

Orthologs for RCOR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RCOR1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RCOR1 30 31
  • 97.44 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RCOR1 30 31
  • 93.12 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RCOR1 30 31
  • 91.81 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rcor1 30 17 31
  • 88.63 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 87 (a)
OneToMany
-- 31
  • 81 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia LOC102554884 30
  • 86.61 (n)
Oppossum
(Monodelphis domestica)
Mammalia RCOR1 31
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RCOR1 30 31
  • 84.2 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RCOR1 31
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rcor1 30
  • 76.8 (n)
Zebrafish
(Danio rerio)
Actinopterygii rcor1 30 31
  • 68.31 (n)
OneToOne
Dr.17938 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6894 30
Fruit Fly
(Drosophila melanogaster)
Insecta CoRest 30 31
  • 55.37 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002488 30
  • 54.75 (n)
Worm
(Caenorhabditis elegans)
Secernentea spr-1 31
  • 15 (a)
ManyToMany
rcor-1 31
  • 15 (a)
ManyToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.12954 30
Species where no ortholog for RCOR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RCOR1 Gene

ENSEMBL:
Gene Tree for RCOR1 (if available)
TreeFam:
Gene Tree for RCOR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RCOR1: view image

Paralogs for RCOR1 Gene

Paralogs for RCOR1 Gene

(2) SIMAP similar genes for RCOR1 Gene using alignment to 4 proteins:

  • RCOR1_HUMAN
  • H0YNY4_HUMAN
  • J3KN32_HUMAN
  • L0R8D2_HUMAN

Pseudogenes.org Pseudogenes for RCOR1 Gene

genes like me logo Genes that share paralogs with RCOR1: view

Variants for RCOR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RCOR1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
771907 Benign: not provided 102,701,339(+) A/G INTRON_VARIANT
rs754404879 Likely Pathogenic: Joubert syndrome 102,701,275(+) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for RCOR1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RCOR1 Gene

Variant ID Type Subtype PubMed ID
dgv263n27 CNV gain 19166990
esv25323 CNV gain 19812545
esv26391 CNV loss 19812545
esv2663482 CNV deletion 23128226
esv2670597 CNV deletion 23128226
esv3552083 CNV deletion 23714750
esv3552084 CNV deletion 23714750
esv3635563 CNV loss 21293372
esv3635564 CNV loss 21293372
esv3635565 CNV loss 21293372
esv3635566 CNV loss 21293372
nsv1044276 CNV gain 25217958
nsv1046125 CNV gain 25217958
nsv1049544 CNV gain 25217958
nsv1118294 CNV deletion 24896259
nsv1136183 CNV deletion 24896259
nsv1430 CNV insertion 18451855
nsv512377 CNV loss 21212237
nsv516226 CNV loss 19592680
nsv7257 OTHER inversion 18451855
nsv832880 CNV loss 17160897
nsv974373 CNV duplication 23825009

Variation tolerance for RCOR1 Gene

Residual Variation Intolerance Score: 30.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.96; 19.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RCOR1 Gene

Human Gene Mutation Database (HGMD)
RCOR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RCOR1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RCOR1 Gene

Disorders for RCOR1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RCOR1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
loeys-dietz syndrome 1
  • lds1
huntington disease
  • hd
- elite association - COSMIC cancer census association via MalaCards
Search RCOR1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with RCOR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RCOR1 Gene

Publications for RCOR1 Gene

  1. CoREST: a functional corepressor required for regulation of neural-specific gene expression. (PMID: 10449787) Andrés ME … Mandel G (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 23
  2. Structural basis for CoREST-dependent demethylation of nucleosomes by the human LSD1 histone demethylase. (PMID: 16885027) Yang M … Yu H (Molecular cell 2006) 3 4 23
  3. Regulation of LSD1 histone demethylase activity by its associated factors. (PMID: 16140033) Shi YJ … Shi Y (Molecular cell 2005) 3 4 23
  4. An essential role for CoREST in nucleosomal histone 3 lysine 4 demethylation. (PMID: 16079794) Lee MG … Shiekhattar R (Nature 2005) 3 4 23
  5. Components of the REST/CoREST/histone deacetylase repressor complex are disrupted, modified, and translocated in HSV-1-infected cells. (PMID: 15897453) Gu H … Roizman B (Proceedings of the National Academy of Sciences of the United States of America 2005) 3 4 23

Products for RCOR1 Gene

Sources for RCOR1 Gene