Human Gene RREB1 (uc003mxb.3)
  Description: Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.
RefSeq Summary (NM_001003699): 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].
Transcript (Including UTRs)
   Position: hg19 chr6:7,108,086-7,252,213 Size: 144,128 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 LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:7,108,086-7,252,213)mRNA (may differ from genome)Protein (1742 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCHPRDLynxMalacardsMGI
OMIMPubMedTreefamUniProtKBBioGrid CRISPR DB

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): RREB1
CDC HuGE Published Literature: RREB1
Positive Disease Associations: Macular Degeneration , Parkinson Disease , Socioeconomic Factors
Related Studies:
  1. Macular Degeneration
    Benjamin M Neale et al. Proceedings of the National Academy of Sciences of the United States of America 2010, Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)., Proceedings of the National Academy of Sciences of the United States of America. [PubMed 20385826]
    implicate different biologic pathways than previously reported and provide new avenues for prevention and treatment of AMD.
  2. Parkinson Disease
    Hon-Chung Fung et al. Lancet neurology 2006, Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data., Lancet neurology. [PubMed 17052657]
    We generated publicly available genotype data for Parkinsons disease patients and controls so that these data can be mined and augmented by other researchers to identify common genetic variability that results in minor and moderate risk for disease.
  3. Socioeconomic Factors
    , , . [PubMed 0]
           more ... click here to view the complete list

-  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 -166.40492-0.338 Picture PostScript Text
3' UTR -926.023012-0.307 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
  Pfam Domains:
PF00096 - Zinc finger, C2H2 type
PF12874 - Zinc-finger of C2H2 type
PF13894 - C2H2-type zinc finger
PF13909 - C2H2-type zinc-finger domain
PF13912 - C2H2-type zinc finger

SCOP Domains:
57667 - C2H2 and C2HC zinc fingers

ModBase Predicted Comparative 3D Structure on Q92766-2
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 Details     
Gene Sorter     
      
      
      

-  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: FINB, NM_001003699, NP_001003699, Q92766-2
UCSC ID: uc003mxb.3
RefSeq Accession: NM_001003699
Protein: Q92766-2, splice isoform of Q92766 CCDS: CCDS34335.1, CCDS34336.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001003699.3
exon count: 13CDS single in 3' UTR: no RNA size: 8733
ORF size: 5229CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 10405.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.