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

    Gene ID: 6239, updated on 10-Dec-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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    See RREB1 in Genome Data Viewer
    Location:
    6p24.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (7107743..7251980)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (6977349..7121600)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. RREB1 could act as an immunological and prognostic biomarker: From comprehensive analysis to osteosarcoma validation. Zhang Z, et al. Int Immunopharmacol, 2024 Dec 25. PMID 39405927
    2. Transcription Factor RREB1: from Target Genes towards Biological Functions. Deng YN, et al. Int J Biol Sci, 2020. PMID 32210733, Free PMC Article
    3. 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
    4. 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
    5. The ras responsive transcription factor RREB1 is a novel candidate gene for type 2 diabetes associated end-stage kidney disease. Bonomo JA, et al. Hum Mol Genet, 2014 Dec 15. PMID 25027322, Free PMC Article

    See all (104) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RREB1 could act as an immunological and prognostic biomarker: From comprehensive analysis to osteosarcoma validation.
      Title: RREB1 could act as an immunological and prognostic biomarker: From comprehensive analysis to osteosarcoma validation.
    2. A novel interaction between RNA m[6]A methyltransferase METTL3 and RREB1.
      Title: A novel interaction between RNA m(6)A methyltransferase METTL3 and RREB1.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. Transcription Factor RREB1: from Target Genes towards Biological Functions.
      Title: Transcription Factor RREB1: from Target Genes towards Biological Functions.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (37)

    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)

    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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    NEW Try the new Transcript table

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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