Human Gene RREB1 (ENST00000379938.7_8) from GENCODE V47lift37
  Description: ras responsive element binding protein 1, transcript variant 1 (from RefSeq NM_001003699.4)
Gencode Transcript: ENST00000379938.7_8
Gencode Gene: ENSG00000124782.21_15
Transcript (Including UTRs)
   Position: hg19 chr6:7,108,194-7,252,213 Size: 144,020 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr6:7,182,145-7,249,201 Size: 67,057 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:7,108,194-7,252,213)mRNA (may differ from genome)Protein (1742 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RREB1_HUMAN
DESCRIPTION: RecName: Full=Ras-responsive element-binding protein 1; Short=RREB-1; AltName: Full=Finger protein in nuclear bodies; AltName: Full=Raf-responsive zinc finger protein LZ321; AltName: Full=Zinc finger motif enhancer-binding protein 1; Short=Zep-1;
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.
SUBUNIT: Interacts with NEUROD1 and AR.
SUBCELLULAR LOCATION: Nucleus speckle.
TISSUE SPECIFICITY: Expressed in heart, placenta, lung, liver, skeletal muscle, kidney and pancreas. Not found in the brain.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family.
SIMILARITY: Contains 15 C2H2-type zinc fingers.
SEQUENCE CAUTION: Sequence=AAB19094.1; Type=Frameshift; Positions=908, 1350, 1383; Sequence=AAC25598.1; Type=Frameshift; Positions=1350, 1383; Sequence=AAC26118.1; Type=Frameshift; Positions=1350, 1383; Sequence=AAH42910.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH42910.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAA23165.1; Type=Miscellaneous discrepancy; Note=Numerous sequencing errors; Sequence=CAH73521.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RREB1
Diseases sorted by gene-association score: vulvar melanoma (11), tumoral calcinosis, familial, normophosphatemic (8), meningeal melanocytoma (8), velocardiofacial syndrome* (7), substance-induced psychosis (7), central nervous system melanocytic neoplasm (7), malignant spindle cell melanoma (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.17 RPKM in Esophagus - Mucosa
Total median expression: 292.30 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -115.20384-0.300 Picture PostScript Text
3' UTR -874.403012-0.290 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00096 - Zinc finger, C2H2 type
PF13894 - C2H2-type zinc finger
PF13909 - C2H2-type zinc-finger domain
PF13912 - C2H2-type zinc finger

SCOP Domains:
57184 - Growth factor receptor domain
57667 - beta-beta-alpha zinc fingers

ModBase Predicted Comparative 3D Structure on Q92766
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007265 Ras protein signal transduction
GO:0007275 multicellular organism development
GO:0010634 positive regulation of epithelial cell migration
GO:0033601 positive regulation of mammary gland epithelial cell proliferation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:1900026 positive regulation of substrate adhesion-dependent cell spreading
GO:1903691 positive regulation of wound healing, spreading of epidermal cells
GO:2000394 positive regulation of lamellipodium morphogenesis

Cellular Component:
GO:0001650 fibrillar center
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0016604 nuclear body
GO:0016607 nuclear speck
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  D49835 - Homo sapiens mRNA for DNA-binding protein, complete cds.
BC111386 - Homo sapiens cDNA clone IMAGE:5589239.
AB019254 - Homo sapiens mRNA for zinc-finger motif-enhancer binding-protein-1, complete cds.
AB019351 - Homo sapiens mRNA for zinc-finger motif-enhancer binding-protein-1 beta, complete cds.
AB019352 - Homo sapiens mRNA for Zinc-finger motif-Enhancer binding-Protein-1 gamma, complete cds.
BX647723 - Homo sapiens mRNA; cDNA DKFZp686C2225 (from clone DKFZp686C2225).
BC032062 - Homo sapiens ras responsive element binding protein 1, mRNA (cDNA clone IMAGE:5168398).
BC131599 - Homo sapiens ras responsive element binding protein 1, mRNA (cDNA clone IMAGE:40114347), complete cds.
BC042910 - Homo sapiens ras responsive element binding protein 1, mRNA (cDNA clone IMAGE:5478977), partial cds.
BC172432 - Synthetic construct Homo sapiens clone IMAGE:100069126, MGC:199137 ras responsive element binding protein 1 (RREB1) mRNA, encodes complete protein.
HM369360 - Homo sapiens ras responsive element binding protein 1 isoform epsilon (RREB1) mRNA, complete cds, alternatively spliced.
HM369361 - Homo sapiens ras responsive element binding protein 1 isoform delta (RREB1) mRNA, complete cds, alternatively spliced.
JD549204 - Sequence 530228 from Patent EP1572962.
JD046503 - Sequence 27527 from Patent EP1572962.
U26914 - Human ras-responsive element binding protein (RREB-1) mRNA, complete cds.
AF072826 - Homo sapiens Raf responsive zinc finger protein isoform (RREB1), partial cds.
AF072825 - Homo sapiens Raf responsive zinc finger protein (RREB1) mRNA, partial cds.
JD086575 - Sequence 67599 from Patent EP1572962.
JD257432 - Sequence 238456 from Patent EP1572962.
JD248759 - Sequence 229783 from Patent EP1572962.
JD271805 - Sequence 252829 from Patent EP1572962.
JD375750 - Sequence 356774 from Patent EP1572962.
JD459299 - Sequence 440323 from Patent EP1572962.
JD532522 - Sequence 513546 from Patent EP1572962.
JD443882 - Sequence 424906 from Patent EP1572962.
JD252668 - Sequence 233692 from Patent EP1572962.
JD164148 - Sequence 145172 from Patent EP1572962.
JD320152 - Sequence 301176 from Patent EP1572962.
JD061545 - Sequence 42569 from Patent EP1572962.
JD055613 - Sequence 36637 from Patent EP1572962.
JD268360 - Sequence 249384 from Patent EP1572962.
JD377244 - Sequence 358268 from Patent EP1572962.
JD433747 - Sequence 414771 from Patent EP1572962.
JD435736 - Sequence 416760 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A2RRF5, E2GM80, E2GM81, ENST00000379938.1, ENST00000379938.2, ENST00000379938.3, ENST00000379938.4, ENST00000379938.5, ENST00000379938.6, FINB, NM_001003699, O75567, O75568, Q5VYB2, Q6BEP5, Q6BEP6, Q6BEP8, Q86SU2, Q92766, Q9Y474, RREB1_HUMAN, uc318pgu.1, uc318pgu.2
UCSC ID: ENST00000379938.7_8
RefSeq Accession: NM_001003699.4
Protein: Q92766 (aka RREB1_HUMAN or RRE1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.