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RREB1 ras responsive element binding protein 1 [ Homo sapiens (human) ]

Gene ID: 6239, updated on 5-Mar-2024

Summary

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Official Symbol
RREB1provided by HGNC
Official Full Name
ras responsive element binding protein 1provided by HGNC
Primary source
HGNC:HGNC:10449
See related
Ensembl:ENSG00000124782 MIM:602209; AllianceGenome:HGNC:10449
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
HNT; FINB; LZ321; Zep-1; RREB-1
Summary
The protein encoded by this gene is a zinc finger transcription factor that binds to RAS-responsive elements (RREs) of gene promoters. It has been shown that the calcitonin gene promoter contains an RRE and that the encoded protein binds there and increases expression of calcitonin, which may be involved in Ras/Raf-mediated cell differentiation. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
Expression
Ubiquitous expression in bone marrow (RPKM 4.1), colon (RPKM 3.6) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
6p24.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (7107743..7251980)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (6977349..7121600)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (7107976..7252213)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 554, pseudogene Neighboring gene Sharpr-MPRA regulatory region 4402 Neighboring gene uncharacterized LOC105374904 Neighboring gene Sharpr-MPRA regulatory region 13455 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:7042699-7043587 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:7051539-7052040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16881 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16882 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16883 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16885 Neighboring gene Sharpr-MPRA regulatory region 12169 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:7119221-7119796 Neighboring gene NANOG hESC enhancer GRCh37_chr6:7124594-7125112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23936 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:7140608-7141135 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16886 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23937 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:7145752-7146422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23938 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:7151030-7151195 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:7156680-7157346 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:7160729-7161690 Neighboring gene VISTA enhancer hs2061 Neighboring gene Sharpr-MPRA regulatory region 4659 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:7169201-7169702 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:7169703-7170202 Neighboring gene skeletal muscle cis-regulatory module in RREB1 intron Neighboring gene Sharpr-MPRA regulatory region 2698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:7258615-7259114 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:7261311-7262102 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:7262103-7262894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:7267569-7268070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:7273665-7274166 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94357 Neighboring gene MPRA-validated peak5642 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:7312596-7313464 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:7313465-7314331 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16890 Neighboring gene signal sequence receptor subunit 1 Neighboring gene cancer antigen 1 Neighboring gene ribosomal protein S3 pseudogene 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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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Related articles in PubMed

  1. Loss of RREB1 in pancreatic beta cells reduces cellular insulin content and affects endocrine cell gene expression. Mattis KK, et al. Diabetologia, 2023 Apr. PMID 36633628, Free PMC Article
  2. RREB1 promotes the development of parafollicular carcinogenesis through the Ras-Raf-1-ELK3 signaling pathway. Ma S, et al. Nucleosides Nucleotides Nucleic Acids, 2022. PMID 35737446
  3. Transcription Factor RREB1: from Target Genes towards Biological Functions. Deng YN, et al. Int J Biol Sci, 2020. PMID 32210733, Free PMC Article
  4. RAS-Responsive Element-Binding Protein 1 Blocks the Granulocytic Differentiation of Myeloid Leukemia Cells. Yao J, et al. Oncol Res, 2019 Jul 12. PMID 30982491, Free PMC Article
  5. Sleeping Beauty Screen Identifies RREB1 and Other Genetic Drivers in Human B-cell Lymphoma. Rahrmann EP, et al. Mol Cancer Res, 2019 Feb. PMID 30355676

See all (93) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. LncRNA SNHG4 promotes prostate cancer cell survival and resistance to enzalutamide through a let-7a/RREB1 positive feedback loop and a ceRNA network.
    Title: LncRNA SNHG4 promotes prostate cancer cell survival and resistance to enzalutamide through a let-7a/RREB1 positive feedback loop and a ceRNA network.
  2. Loss of RREB1 in pancreatic beta cells reduces cellular insulin content and affects endocrine cell gene expression.
    Title: Loss of RREB1 in pancreatic beta cells reduces cellular insulin content and affects endocrine cell gene expression.
  3. The U2AF65/circNCAPG/RREB1 feedback loop promotes malignant phenotypes of glioma stem cells through activating the TGF-beta pathway.
    Title: The U2AF65/circNCAPG/RREB1 feedback loop promotes malignant phenotypes of glioma stem cells through activating the TGF-β pathway.
  4. RREB1 promotes the development of parafollicular carcinogenesis through the Ras-Raf-1-ELK3 signaling pathway.
    Title: RREB1 promotes the development of parafollicular carcinogenesis through the Ras-Raf-1-ELK3 signaling pathway.
  5. Knockdown of RREB1 inhibits cell proliferation via enhanced p16 expression in gastric cancer.
    Title: Knockdown of RREB1 inhibits cell proliferation via enhanced p16 expression in gastric cancer.
  6. Transcription Factor RREB1: from Target Genes towards Biological Functions.
    Title: Transcription Factor RREB1: from Target Genes towards Biological Functions.
  7. Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes.
    Title: Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes.
  8. Data show that RREB1-induced upregulation of AGAP2-AS1 regulates cell proliferation and migration in PC partly through suppressing ANKRD1 and ANGPTL4 by recruiting EZH2.
    Title: RREB1-induced upregulation of the lncRNA AGAP2-AS1 regulates the proliferation and migration of pancreatic cancer partly through suppressing ANKRD1 and ANGPTL4.
  9. identification of RAS-responsive element binding protein 1 (RREB1), a RAS transcriptional effector, as a key partner of TGF-beta-activated SMAD transcription factors in epithelial-to-mesenchymal transitions
    Title: TGF-β orchestrates fibrogenic and developmental EMTs via the RAS effector RREB1.
  10. Findings demonstrated that RREB1 blocks granulocytic differentiation of myeloid leukemia cells by inhibiting the expression of miR-145 and downstream targets of the RAS signal pathway.
    Title: RAS-Responsive Element-Binding Protein 1 Blocks the Granulocytic Differentiation of Myeloid Leukemia Cells.
Submit: New GeneRIF Correction See all GeneRIFs (35)

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

EBI GWAS Catalog

Description
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
EBI GWAS Catalog
Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.
EBI GWAS Catalog
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
EBI GWAS Catalog
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
EBI GWAS Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog
Genome-wide association of body fat distribution in African ancestry populations suggests new loci.
EBI GWAS Catalog
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
EBI GWAS Catalog
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
EBI GWAS Catalog
Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of ras responsive element binding protein 1 (RREB1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of DNA-templated transcription TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of brown fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of epithelial cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of lamellipodium morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of mammary gland epithelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of substrate adhesion-dependent cell spreading IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of wound healing, spreading of epidermal cells IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of DNA-templated transcription TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm TAS
Traceable Author Statement
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
located_in fibrillar center IDA
Inferred from Direct Assay
more info
  
located_in nuclear body TAS
Traceable Author Statement
more info
 PubMed 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
ras-responsive element-binding protein 1
Names
DNA-binding protein
finger protein in nuclear bodies
hindsight homolog
raf-responsive zinc finger protein LZ321
zinc finger motif enhancer-binding protein 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.

Genomic

  1. NG_016201.1 RefSeqGene

    Range
    5365..149384
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001003698.4 → NP_001003698.1  ras-responsive element-binding protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001003698.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. Variants 2 and 3 both encode isoform 2.
    Source sequence(s)
    AB019351, AL139095, AL355336, AL589644, BI818966
    Consensus CDS
    CCDS34336.1
    UniProtKB/Swiss-Prot
    A2RRF5, E2GM80, E2GM81, O75567, O75568, Q5VYB2, Q6BEP5, Q6BEP6, Q6BEP8, Q86SU2, Q92766, Q9Y474
    Related
    ENSP00000305560.10, ENST00000349384.10
    Conserved Domains (5) summary
    COG5048
    Location:64 → 246
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:68 → 88
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:1540 → 1562
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:1526 → 1550
    zf-H2C2_2; Zinc-finger double domain
    pfam15724
    Location:1412 → 1476
    TMEM119; TMEM119 family

  2. NM_001003699.4 → NP_001003699.1  ras-responsive element-binding protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001003699.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB019254, AL139095, AL355336, AL589644, BI818966
    Consensus CDS
    CCDS34335.1
    UniProtKB/Swiss-Prot
    Q92766
    Related
    ENSP00000369270.2, ENST00000379938.7
    Conserved Domains (5) summary
    COG5048
    Location:64 → 246
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:68 → 88
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:1595 → 1617
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:1581 → 1605
    zf-H2C2_2; Zinc-finger double domain
    pfam15724
    Location:1467 → 1531
    TMEM119; TMEM119 family

  3. NM_001003700.2 → NP_001003700.1  ras-responsive element-binding protein 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AB019352, AL139095, AL355336, AL589644, BI818966
    Consensus CDS
    CCDS54963.1
    UniProtKB/Swiss-Prot
    Q92766
    Related
    ENSP00000335574.6, ENST00000334984.10
    Conserved Domains (4) summary
    COG5048
    Location:64 → 246
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:68 → 88
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:1329 → 1351
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:111 → 136
    zf-H2C2_2; Zinc-finger double domain

  4. NM_001168344.2 → NP_001161816.1  ras-responsive element-binding protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001161816.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. Variants 2 and 3 both encode isoform 2.
    Source sequence(s)
    AB019351, AL139095, AL355336, AL589644, D49835, U26914
    Consensus CDS
    CCDS34336.1
    UniProtKB/Swiss-Prot
    A2RRF5, E2GM80, E2GM81, O75567, O75568, Q5VYB2, Q6BEP5, Q6BEP6, Q6BEP8, Q86SU2, Q92766, Q9Y474
    Related
    ENSP00000369265.3, ENST00000379933.7
    Conserved Domains (5) summary
    COG5048
    Location:64 → 246
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:68 → 88
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:1540 → 1562
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:1526 → 1550
    zf-H2C2_2; Zinc-finger double domain
    pfam15724
    Location:1412 → 1476
    TMEM119; TMEM119 family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    7107743..7251980
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    6977349..7121600
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_002955.4: Suppressed sequence

    Description
    NM_002955.4: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92766.3 GenPept UniProtKB/Swiss-Prot:Q92766

Gene LinkOut

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