RCOR1 REST corepressor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RCOR1provided by HGNC
Official Full Name: REST corepressor 1provided by HGNC
Primary source: HGNC:HGNC:17441
See related: Ensembl:ENSG00000089902 MIM:607675; AllianceGenome:HGNC:17441
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: RCOR; COREST
Summary: 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]
Expression: Ubiquitous expression in bone marrow (RPKM 19.5), esophagus (RPKM 14.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.31-q32.32

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (102592649..102730561)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (96828874..96966907)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (103058986..103196898)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

GSE1 links the HDAC1/CoREST co-repressor complex to DNA damage.
Title: GSE1 links the HDAC1/CoREST co-repressor complex to DNA damage.
Genome-wide association study suggests that variation at the RCOR1 locus is associated with tinnitus in UK Biobank.
Title: Genome-wide association study suggests that variation at the RCOR1 locus is associated with tinnitus in UK Biobank.
Mechanism of Crosstalk between the LSD1 Demethylase and HDAC1 Deacetylase in the CoREST Complex.
Title: Mechanism of Crosstalk between the LSD1 Demethylase and HDAC1 Deacetylase in the CoREST Complex.
Inhibiting the coregulator CoREST impairs Foxp3+ Treg function and promotes antitumor immunity.
Title: Inhibiting the coregulator CoREST impairs Foxp3+ Treg function and promotes antitumor immunity.
RCOR1 directly binds to MED28 and weakens its inducing effect on cancer stem cell-like activity of oral cavity squamous cell carcinoma cells.
Title: RCOR1 directly binds to MED28 and weakens its inducing effect on cancer stem cell-like activity of oral cavity squamous cell carcinoma cells.
MYT1 attenuates neuroblastoma cell differentiation by interacting with the LSD1/CoREST complex.
Title: MYT1 attenuates neuroblastoma cell differentiation by interacting with the LSD1/CoREST complex.
Crystal Structure of the LSD1/CoREST Histone Demethylase Bound to Its Nucleosome Substrate.
Title: Crystal Structure of the LSD1/CoREST Histone Demethylase Bound to Its Nucleosome Substrate.
AGS mutations in this cluster impair the interaction of RNase H2 with several members of the CoREST chromatin-silencing complex that include the histone deacetylase HDAC2 and the demethylase KDM1A, the transcriptional regulators RCOR1 and GTFII-I as well as ZMYM3, an MYM-type zinc finger protein.
Title: Aicardi-Goutières Syndrome associated mutations of RNase H2B impair its interaction with ZMYM3 and the CoREST histone-modifying complex.
The studies have identified members of the CoREST repression complex as key regulators of HIV latency in microglia.
Title: HIV-1 infection of microglial cells in a reconstituted humanized mouse model and identification of compounds that selectively reverse HIV latency.
This study showed that tetrahydrofolate stably binds to the LSD1/CoREST complex, in its open conformation, at its entrance.
Title: Exploring the Active Center of the LSD1/CoREST Complex by Molecular Dynamics Simulation Utilizing Its Co-crystallized Co-factor Tetrahydrofolate as a Probe.

Submit: New GeneRIF Correction See all GeneRIFs (37)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
New gene functions in megakaryopoiesis and platelet formation. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	LSD1/KDM1 and CoREST proteins are recruited to the HIV-1 LTR in response to HIV-1 Tat and formation of the LSD1/KDM1/CoREST complex functions as a co-activator of HIV-1 transcription	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12Wsu95e (e-PCR), detects polymorphism
- UniSTS:141864

D14S557 (e-PCR)
- UniSTS:149298

D14S577 (e-PCR)
- UniSTS:21822

G15972 (e-PCR)
- UniSTS:10059

G35981 (e-PCR)
- UniSTS:36180

RH123147 (e-PCR)
- UniSTS:135528

D14S1249 (e-PCR)
- UniSTS:20083

RH25301 (e-PCR)
- UniSTS:90245

G62068 (e-PCR)
- UniSTS:139184

D14S1343 (e-PCR)
- UniSTS:55477

G35674 (e-PCR)
- UniSTS:1988

D14S1199 (e-PCR)
- UniSTS:47571

RH68264 (e-PCR)
- UniSTS:73456

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables enzyme binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription corepressor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in chromatin organization	IEA Inferred from Electronic Annotation more info
involved_in erythrocyte differentiation	IEA Inferred from Electronic Annotation more info
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 gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of megakaryocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of DNA repair complex	IDA Inferred from Direct Assay more info	PubMed
part_of histone deacetylase complex	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
part_of transcription regulator 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: REST corepressor 1

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.

mRNA and Protein(s)

NM_015156.4 → NP_055971.2 REST corepressor 1

See identical proteins and their annotated locations for NP_055971.2

Status: REVIEWED

Source sequence(s)

AF070627, AI337324, AL136293, BC051003, D31888, DB455887

Consensus CDS

CCDS9974.2

UniProtKB/Swiss-Prot

J3KN32, Q15044, Q6P2I9, Q86VG5, Q9UKL0

Related

ENSP00000262241.5, ENST00000262241.7

Conserved Domains (3) summary

pfam00249
Location:385 → 428

Myb_DNA-binding; Myb-like DNA-binding domain

pfam01448
Location:105 → 158

ELM2; ELM2 domain

cl21498
Location:194 → 238

SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...