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Aliases for RREB1 Gene

Aliases for RREB1 Gene

  • Ras Responsive Element Binding Protein 1 2 3 5
  • Zinc Finger Motif Enhancer-Binding Protein 1 3 4
  • Raf-Responsive Zinc Finger Protein LZ321 3 4
  • Finger Protein In Nuclear Bodies 3 4
  • RREB-1 3 4
  • Zep-1 3 4
  • FINB 3 4
  • Ras-Responsive Element-Binding Protein 1 3
  • Hindsight Homolog (Drosophila) 2
  • DNA-Binding Protein 3
  • Hindsight Homolog 3
  • LZ321 3
  • HNT 3

External Ids for RREB1 Gene

Previous GeneCards Identifiers for RREB1 Gene

  • GC06P007092
  • GC06P007052
  • GC06P007053
  • GC06P007084
  • GC06P006984

Summaries for RREB1 Gene

Entrez Gene Summary for RREB1 Gene

  • 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]

GeneCards Summary for RREB1 Gene

RREB1 (Ras Responsive Element Binding Protein 1) is a Protein Coding gene. Diseases associated with RREB1 include Vulvar Melanoma and Tumoral Calcinosis, Normophosphatemic, Familial. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA polymerase II core promoter sequence-specific DNA binding. An important paralog of this gene is ZBTB48.

UniProtKB/Swiss-Prot for RREB1 Gene

  • Transcription factor that binds specifically to the RAS-responsive elements (RRE) of gene promoters. May be involved in Ras/Raf-mediated cell differentiation by enhancing calcitonin expression. Represses the angiotensinogen gene. Negatively regulates the transcriptional activity of AR. Potentiates the transcriptional activity of NEUROD1.

Gene Wiki entry for RREB1 Gene

Additional gene information for RREB1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RREB1 Gene

Genomics for RREB1 Gene

GeneHancer (GH) Regulatory Elements for RREB1 Gene

Promoters and enhancers for RREB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J007105 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.9 941 5.5 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF213 ZNF416 RREB1 RIOK1 PIR43361 ENSG00000225092
GH06J007049 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 661.8 -55.7 -55747 4.2 YY1 GLIS2 SP3 MAFF GLIS1 WT1 KLF1 ZNF777 BACH1 ZIC2 RREB1 GC06P007051 LY86 GC06P007002
GH06J007164 Promoter/Enhancer 1.2 EPDnew dbSUPER 650.2 +55.7 55654 0.1 ELF3 SOX13 FOXA2 SAP130 MAX KMT2B RARA YY1 NR2F6 HOMEZ RREB1 ENSG00000225092
GH06J007198 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 18.3 +93.5 93471 5 HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 IRF4 RIOK1 RREB1 ENSG00000238221 SSR1 GC06M007188 GC06P007184 GC06P007233 GC06M007189
GH06J008099 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 13.7 +993.9 993936 3.6 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 EEF1E1 ENSG00000232234 EEF1E1-BLOC1S5 RREB1 ENSG00000225092 GC06P008087 GC06M008098
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RREB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RREB1 gene promoter:
  • AREB6
  • GATA-2
  • GATA-3
  • HNF-1
  • HNF-1A
  • Meis-1
  • Meis-1a
  • Meis-1b
  • N-Myc
  • ATF-2

Genomic Locations for RREB1 Gene

Genomic Locations for RREB1 Gene
chr6:7,107,597-7,251,980
(GRCh38/hg38)
Size:
144,384 bases
Orientation:
Plus strand
chr6:7,107,830-7,252,213
(GRCh37/hg19)
Size:
144,384 bases
Orientation:
Plus strand

Genomic View for RREB1 Gene

Genes around RREB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RREB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RREB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RREB1 Gene

Proteins for RREB1 Gene

  • Protein details for RREB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92766-RREB1_HUMAN
    Recommended name:
    Ras-responsive element-binding protein 1
    Protein Accession:
    Q92766
    Secondary Accessions:
    • A2RRF5
    • E2GM80
    • E2GM81
    • O75567
    • O75568
    • Q5VYB2
    • Q6BEP5
    • Q6BEP6
    • Q6BEP8
    • Q86SU2
    • Q9Y474

    Protein attributes for RREB1 Gene

    Size:
    1687 amino acids
    Molecular mass:
    181420 Da
    Quaternary structure:
    • Interacts with NEUROD1 and AR.
    SequenceCaution:
    • Sequence=AAB19094.1; Type=Frameshift; Positions=908, 1350, 1383; Evidence={ECO:0000305}; Sequence=AAC25598.1; Type=Frameshift; Positions=1350, 1383; Evidence={ECO:0000305}; Sequence=AAC26118.1; Type=Frameshift; Positions=1350, 1383; Evidence={ECO:0000305}; Sequence=AAH42910.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH42910.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA23165.1; Type=Miscellaneous discrepancy; Note=Numerous sequencing errors.; Evidence={ECO:0000305}; Sequence=CAH73521.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for RREB1 Gene

neXtProt entry for RREB1 Gene

Post-translational modifications for RREB1 Gene

  • Ubiquitination at isoforms=2, 3, 5435
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RREB1 Gene

Domains & Families for RREB1 Gene

Gene Families for RREB1 Gene

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

Protein Domains for RREB1 Gene

Graphical View of Domain Structure for InterPro Entry

Q92766

UniProtKB/Swiss-Prot:

RREB1_HUMAN :
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with RREB1: view

Function for RREB1 Gene

Molecular function for RREB1 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that binds specifically to the RAS-responsive elements (RRE) of gene promoters. May be involved in Ras/Raf-mediated cell differentiation by enhancing calcitonin expression. Represses the angiotensinogen gene. Negatively regulates the transcriptional activity of AR. Potentiates the transcriptional activity of NEUROD1.
GENATLAS Biochemistry:
RAS responsive element binding protein

Phenotypes From GWAS Catalog for RREB1 Gene

Gene Ontology (GO) - Molecular Function for RREB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 8816445
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IMP 20133935
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 8816445
GO:0003676 nucleic acid binding IEA --
genes like me logo Genes that share ontologies with RREB1: view
genes like me logo Genes that share phenotypes with RREB1: view

Human Phenotype Ontology for RREB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for RREB1 Gene

miRTarBase miRNAs that target RREB1

Transcription Factor Targets for RREB1 Gene

Selected GeneGlobe predicted Target genes for RREB1

Clone Products

  • Addgene plasmids for RREB1

No data available for Enzyme Numbers (IUBMB) , Animal Models and HOMER Transcription for RREB1 Gene

Localization for RREB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RREB1 Gene

Nucleus speckle.

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 RREB1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
  • Nucleoli fibrillar center (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RREB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus TAS 9305772
GO:0005737 cytoplasm TAS 9305772
GO:0016604 nuclear body TAS 9305772
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with RREB1: view

Pathways & Interactions for RREB1 Gene

SuperPathways for RREB1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RREB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 20133935
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated TAS 9305772
GO:0006366 transcription by RNA polymerase II TAS 8816445
GO:0007265 Ras protein signal transduction TAS 8816445
genes like me logo Genes that share ontologies with RREB1: view

No data available for Pathways by source and SIGNOR curated interactions for RREB1 Gene

Drugs & Compounds for RREB1 Gene

(1) Drugs for RREB1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma 2430
genes like me logo Genes that share compounds with RREB1: view

Transcripts for RREB1 Gene

mRNA/cDNA for RREB1 Gene

(5) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RREB1 Gene

Ras responsive element binding protein 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for RREB1

Alternative Splicing Database (ASD) splice patterns (SP) for RREB1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: - -
SP2: - - -
SP3: - - -
SP4:
SP5: -
SP6:

Relevant External Links for RREB1 Gene

GeneLoc Exon Structure for
RREB1
ECgene alternative splicing isoforms for
RREB1

Expression for RREB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RREB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RREB1 Gene

This gene is overexpressed in Serum (33.9), CD8 Tcells (9.3), Heart (8.4), and Pancreatic juice (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RREB1 Gene



NURSA nuclear receptor signaling pathways regulating expression of RREB1 Gene:

RREB1

SOURCE GeneReport for Unigene cluster for RREB1 Gene:

Hs.298248

mRNA Expression by UniProt/SwissProt for RREB1 Gene:

Q92766-RREB1_HUMAN
Tissue specificity: Expressed in heart, placenta, lung, liver, skeletal muscle, kidney and pancreas. Not found in the brain.

Evidence on tissue expression from TISSUES for RREB1 Gene

  • Liver(4.3)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with RREB1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RREB1 Gene

Orthologs for RREB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RREB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RREB1 34 33
  • 99.48 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RREB1 34
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RREB1 34 33
  • 85.55 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rreb1 16 34 33
  • 82.01 (n)
cow
(Bos Taurus)
Mammalia RREB1 34 33
  • 81.51 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rreb1 33
  • 80.55 (n)
oppossum
(Monodelphis domestica)
Mammalia RREB1 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves RREB1 34 33
  • 68.91 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RREB1 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rreb1 33
  • 61.5 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5387 33
zebrafish
(Danio rerio)
Actinopterygii rreb1a 34 33
  • 57.26 (n)
OneToMany
rreb1b 34
  • 42 (a)
OneToMany
-- 33
fruit fly
(Drosophila melanogaster)
Insecta peb 34
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 16 (a)
ManyToMany
Species where no ortholog for RREB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for RREB1 Gene

ENSEMBL:
Gene Tree for RREB1 (if available)
TreeFam:
Gene Tree for RREB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RREB1: view image

Paralogs for RREB1 Gene

Paralogs for RREB1 Gene

Pseudogenes.org Pseudogenes for RREB1 Gene

genes like me logo Genes that share paralogs with RREB1: view

Variants for RREB1 Gene

Sequence variations from dbSNP and Humsavar for RREB1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000003073 -- 7,213,120(+) A/T intron_variant
rs1000016500 -- 7,199,249(+) G/T intron_variant
rs1000036234 -- 7,121,754(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000038055 -- 7,159,190(+) A/C intron_variant
rs1000040590 -- 7,107,514(+) T/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RREB1 Gene

Variant ID Type Subtype PubMed ID
esv3890787 CNV loss 25118596
nsv1133014 OTHER inversion 24896259
nsv1133626 CNV deletion 24896259
nsv1151332 OTHER inversion 26484159
nsv472459 CNV novel sequence insertion 20440878
nsv818397 CNV loss 17921354
nsv823411 CNV gain 20364138

Variation tolerance for RREB1 Gene

Residual Variation Intolerance Score: 41.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.88; 97.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RREB1 Gene

Human Gene Mutation Database (HGMD)
RREB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RREB1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RREB1 Gene

Disorders for RREB1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for RREB1 Gene - From: HGMD, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
vulvar melanoma
  • malignant melanoma of vulva
tumoral calcinosis, normophosphatemic, familial
  • nftc
meningeal melanocytoma
  • leptomeningeal melanocytoma
velocardiofacial syndrome
  • cayler cardiofacial syndrome
substance-induced psychosis
- elite association - COSMIC cancer census association via MalaCards
Search RREB1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RREB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RREB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RREB1 Gene

Publications for RREB1 Gene

  1. The zinc finger protein ras-responsive element binding protein-1 is a coregulator of the androgen receptor: implications for the role of the Ras pathway in enhancing androgenic signaling in prostate cancer. (PMID: 17550981) Mukhopadhyay NK … Freeman MR (Molecular endocrinology (Baltimore, Md.) 2007) 3 4 22 58
  2. Novel transcriptional potentiation of BETA2/NeuroD on the secretin gene promoter by the DNA-binding protein Finb/RREB-1. (PMID: 12482979) Ray SK … Leiter AB (Molecular and cellular biology 2003) 3 4 22 58
  3. A human Raf-responsive zinc-finger protein that binds to divergent sequences. (PMID: 10390538) Zhang L … Edenberg HJ (Nucleic acids research 1999) 3 4 22 58
  4. RREB-1, a novel zinc finger protein, is involved in the differentiation response to Ras in human medullary thyroid carcinomas. (PMID: 8816445) Thiagalingam A … Nelkin BD (Molecular and cellular biology 1996) 3 4 22 58
  5. RREB1 transcription factor splice variants in urologic cancer. (PMID: 21703425) Nitz MD … Theodorescu D (The American journal of pathology 2011) 3 4 58

Products for RREB1 Gene

Sources for RREB1 Gene

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