RCOR3 REST corepressor 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RCOR3provided by HGNC
Official Full Name: REST corepressor 3provided by HGNC
Primary source: HGNC:HGNC:25594
See related: Ensembl:ENSG00000117625 MIM:620464; AllianceGenome:HGNC:25594
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Predicted to enable enzyme binding activity and transcription corepressor activity. Predicted to be involved in negative regulation of DNA-templated transcription and regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in testis (RPKM 13.7), thyroid (RPKM 11.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q32.2-q32.3

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (211259366..211316385)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (210504931..210561986)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (211432708..211489727)

Chromosome 1 - NC_000001.11 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?

The serum RCOR3 levels in SHB, cirrhosis and liver cancer patients were significantly lower than those in the patients with moderate chronic hepatitis B and with mild chronic hepatitis B.
Title: Involvement of REST corepressor 3 in prognosis of human hepatitis B.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.

Submit: New GeneRIF Correction

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

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

D1S3586 (e-PCR)
- UniSTS:68877

RH103497 (e-PCR)
- UniSTS:97822

AL009661 (e-PCR)
- UniSTS:27946

D1S527E (e-PCR)
- UniSTS:473192

SHGC-76311 (e-PCR)
- UniSTS:15290

AL009693 (e-PCR)
- UniSTS:35534

SHGC-76308 (e-PCR)
- UniSTS:78802

SHGC-53772 (e-PCR)
- UniSTS:35038

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 negative regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
part_of histone deacetylase complex	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
part_of transcription regulator complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: REST corepressor 3

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_001136223.3 → NP_001129695.1 REST corepressor 3 isoform a

See identical proteins and their annotated locations for NP_001129695.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes isoform a.

Source sequence(s)

AK302664, AL590101, BU689437, HY024910

Consensus CDS

CCDS44312.1

UniProtKB/Swiss-Prot

Q9P2K3

Related

ENSP00000413929.2, ENST00000419091.7

Conserved Domains (3) summary

pfam00249
Location:347 → 390

Myb_DNA-binding; Myb-like DNA-binding domain

pfam01448
Location:59 → 110

ELM2; ELM2 domain

cl21498
Location:146 → 190

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 ...
NM_001136224.4 → NP_001129696.2 REST corepressor 3 isoform b

See identical proteins and their annotated locations for NP_001129696.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate 3' coding exon compared to variant 1, that causes a frameshift. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AL590101, BC031608, BU689437, DC387352, HY024910

Consensus CDS

CCDS44313.1

UniProtKB/Swiss-Prot

Q9P2K3

Related

ENSP00000355973.4, ENST00000367006.8

Conserved Domains (2) summary

pfam01448
Location:59 → 110

ELM2; ELM2 domain

cl21498
Location:146 → 190

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 ...
NM_001136225.3 → NP_001129697.1 REST corepressor 3 isoform c

See identical proteins and their annotated locations for NP_001129697.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AA831517, AK131312, HY024910

Consensus CDS

CCDS44314.1

UniProtKB/Swiss-Prot

Q9P2K3

Related

ENSP00000398558.2, ENST00000452621.6

Conserved Domains (3) summary

pfam00249
Location:347 → 390

Myb_DNA-binding; Myb-like DNA-binding domain

pfam01448
Location:59 → 110

ELM2; ELM2 domain

cl21498
Location:146 → 190

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 ...
NM_001350069.2 → NP_001336998.1 REST corepressor 3 isoform e

Status: VALIDATED

Description

Transcript Variant: This variant (5) contains an alternate in-frame exon in the 5' coding region compared to variant 1. The resulting isoform (e) has the same N- and C-termini, but is longer than isoform a.

Source sequence(s)

AK302664, AL590101, BU689437, DA925839, HY024910

Conserved Domains (3) summary

pfam00249
Location:379 → 422

Myb_DNA-binding; Myb-like DNA-binding domain

pfam01448
Location:59 → 142

ELM2; ELM2 domain

cl21498
Location:178 → 222

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 ...
NM_001350070.2 → NP_001336999.1 REST corepressor 3 isoform f

Status: VALIDATED

Description

Transcript Variant: This variant (6) contains an alternate exon in its 5' UTR, resulting in the use of a downstream start codon compared to variant 1. The resulting isoform (f) has a shorter N-terminus compared to isoform a.

Source sequence(s)

AK302664, AL590101, AL611964, BU689437, DB164963, HY024910

Conserved Domains (2) summary

pfam00249
Location:226 → 269

Myb_DNA-binding; Myb-like DNA-binding domain

cl21498
Location:25 → 69

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 ...
NM_018254.5 → NP_060724.1 REST corepressor 3 isoform d

See identical proteins and their annotated locations for NP_060724.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (d) has a shorter N-terminus compared to isoform a.

Source sequence(s)

AK001738, AL590101, BU689437, DA478986

Consensus CDS

CCDS31016.1

UniProtKB/Swiss-Prot

B3KYA2, B4DYY7, Q5VT47, Q7L9I5, Q8N5U3, Q9NV83, Q9P2K3

Related

ENSP00000355972.4, ENST00000367005.8

Conserved Domains (3) summary

pfam00249
Location:289 → 332

Myb_DNA-binding; Myb-like DNA-binding domain

pfam01448
Location:1 → 52

ELM2; ELM2 domain

cl21498
Location:88 → 132

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 ...

RNA

NR_146432.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (7) uses an alternate splice site in its 5' terminal exon and contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD)

Source sequence(s)

AK302664, AL590101, BI051857, BU689437, DA334880, HY024910
NR_146433.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (8) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK302664, AL590101, BI051857, BQ218032, BU689437, DC387352, HY024910
NR_146434.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (9) contains an alternate internal exon, and it 3' terminal exon extends past a splice site that is used in variant 1.. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AA831517, AI380424, AK302664, BI051857, BP221223, BQ218032, DA224160, DC387352, HY024910

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

211259366..211316385

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047425046.1 → XP_047281002.1 REST corepressor 3 isoform X9
XM_005273191.6 → XP_005273248.1 REST corepressor 3 isoform X1

Conserved Domains (3) summary

pfam00249
Location:348 → 391

Myb_DNA-binding; Myb-like DNA-binding domain

pfam01448
Location:60 → 111

ELM2; ELM2 domain

cl21498
Location:147 → 191

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 ...
XM_006711442.3 → XP_006711505.1 REST corepressor 3 isoform X4

Conserved Domains (3) summary

smart00717
Location:146 → 192

SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

pfam01448
Location:60 → 111

ELM2; ELM2 domain

cl21498
Location:147 → 191

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 ...
XM_011509748.3 → XP_011508050.1 REST corepressor 3 isoform X2

Conserved Domains (4) summary

COG5259
Location:223 → 356

RSC8; RSC chromatin remodeling complex subunit RSC8 [Chromatin structure and dynamics / Transcription]

pfam00249
Location:322 → 365

Myb_DNA-binding; Myb-like DNA-binding domain

pfam01448
Location:60 → 111

ELM2; ELM2 domain

cl21498
Location:147 → 191

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 ...
XM_047425021.1 → XP_047280977.1 REST corepressor 3 isoform X6
XM_017001761.3 → XP_016857250.1 REST corepressor 3 isoform X3
XM_047425032.1 → XP_047280988.1 REST corepressor 3 isoform X7
XM_047425043.1 → XP_047280999.1 REST corepressor 3 isoform X9
XM_047425052.1 → XP_047281008.1 REST corepressor 3 isoform X11
XM_047425053.1 → XP_047281009.1 REST corepressor 3 isoform X12

Related

ENSP00000432779.1, ENST00000528926.5
XM_047425038.1 → XP_047280994.1 REST corepressor 3 isoform X8
XM_047425051.1 → XP_047281007.1 REST corepressor 3 isoform X10
XM_047425011.1 → XP_047280967.1 REST corepressor 3 isoform X5