Human Gene EDF1 (uc004cjt.1)
  Description: Homo sapiens endothelial differentiation-related factor 1 (EDF1), transcript variant alpha, mRNA.
RefSeq Summary (NM_003792): This gene encodes a protein that may regulate endothelial cell differentiation, lipid metabolism, and hormone-induced cardiomyocyte hypertrophy. The encoded protein has also been found to act as a transcriptional coactivator by interconnecting the general transcription factor TATA element-binding protein (TBP) and gene-specific activators. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013].
Transcript (Including UTRs)
   Position: hg19 chr9:139,756,571-139,760,738 Size: 4,168 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr9:139,756,736-139,760,710 Size: 3,975 Coding Exon Count: 5 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:139,756,571-139,760,738)mRNA (may differ from genome)Protein (148 aa)
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-  Comments and Description Text from UniProtKB
  ID: EDF1_HUMAN
DESCRIPTION: RecName: Full=Endothelial differentiation-related factor 1; Short=EDF-1; AltName: Full=Multiprotein-bridging factor 1; Short=MBF1;
FUNCTION: Transcriptional coactivator stimulating NR5A1 and ligand-dependent NR1H3/LXRA and PPARG transcriptional activities. Enhances the DNA-binding activity of ATF1, ATF2, CREB1 and NR5A1. Regulates nitric oxid synthase activity probably by sequestering calmodulin in the cytoplasm. May function in endothelial cells differentiation, hormone-induced cardiomyocytes hypertrophy and lipid metabolism.
SUBUNIT: Interacts with TBP and the transcription factor IID (TFIID) complex, NR5A2, NR1H3 and PPARG. Interaction with TBP is regulated by phosphorylation. Binds NR5A1, ATF1, FOS and JUN via their conserved basic region. Binding to calmodulin is regulated by calcium and phosphorylation of the IQ motif.
INTERACTION: Q13133:NR1H3; NbExp=4; IntAct=EBI-781301, EBI-781356; Q04752:NR5A1 (xeno); NbExp=4; IntAct=EBI-781310, EBI-850837; O00482:NR5A2; NbExp=2; IntAct=EBI-781301, EBI-781320; P37231:PPARG; NbExp=4; IntAct=EBI-781301, EBI-781384; P20226:TBP; NbExp=2; IntAct=EBI-781310, EBI-355371;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Also nuclear upon binding to NR5A1 and treatment of cells with TPA or forskolin.
TISSUE SPECIFICITY: Expressed in brain, liver, lung, kidney and heart (at protein level). Ubiquitously expressed. More abundant in heart, pancreas, liver, intestine and adipose tissues.
DEVELOPMENTAL STAGE: Expressed in fetal tissues. More abundant in kidney.
INDUCTION: Down-regulated by HIV-1 Tat or phorbol ester (TPA) treatment in endothelial cells (at mRNA and protein levels).
DOMAIN: The IQ motif, which is involved in calmodulin binding, overlaps with the binding domain for nuclear receptors and transcription factors. Its phosphorylation probably allows a switch between the two activities of the protein (By similarity).
PTM: Phosphorylated (by PKA and PKC).
SIMILARITY: Contains 1 HTH cro/C1-type DNA-binding domain.
SEQUENCE CAUTION: Sequence=CAI12698.1; Type=Erroneous gene model prediction;

-  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: EDF1
Diseases sorted by gene-association score: deafness, autosomal recessive 79 (3), deafness, autosomal recessive 33 (2)

-  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: 178.16 RPKM in Prostate
Total median expression: 6278.20 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -8.3028-0.296 Picture PostScript Text
3' UTR -54.10165-0.328 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
IPR001387 - HTH_3
IPR010982 - Lambda_DNA-bd_dom
IPR013729 - MBF1_N

Pfam Domains:
PF01381 - Helix-turn-helix
PF08523 - Multiprotein bridging factor 1

SCOP Domains:
47413 - lambda repressor-like DNA-binding domains

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1X57 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on O60869
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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 orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsemblFlyBaseWormBaseSGD
 Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
 AlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003713 transcription coactivator activity
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0043565 sequence-specific DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0004402 histone acetyltransferase activity
GO:0008168 methyltransferase activity

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007275 multicellular organism development
GO:0019216 regulation of lipid metabolic process
GO:0030154 cell differentiation
GO:0043388 positive regulation of DNA binding
GO:0045446 endothelial cell differentiation
GO:0045893 positive regulation of transcription, DNA-templated

Cellular Component:
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005669 transcription factor TFIID complex


-  Descriptions from all associated GenBank mRNAs
  AJ005259 - Homo sapiens mRNA for EDF-1 protein.
BC015500 - Homo sapiens endothelial differentiation-related factor 1, mRNA (cDNA clone MGC:9058 IMAGE:3903539), complete cds.
AB002282 - Homo sapiens mRNA for hMBF1alpha, complete cds.
JD404347 - Sequence 385371 from Patent EP1572962.
KJ892605 - Synthetic construct Homo sapiens clone ccsbBroadEn_01999 EDF1 gene, encodes complete protein.
BT009863 - Homo sapiens endothelial differentiation-related factor 1 mRNA, complete cds.
DQ891577 - Synthetic construct clone IMAGE:100004207; FLH178300.01X; RZPDo839B08128D endothelial differentiation-related factor 1 (EDF1) gene, encodes complete protein.
DQ894770 - Synthetic construct Homo sapiens clone IMAGE:100009230; FLH178296.01L; RZPDo839B08127D endothelial differentiation-related factor 1 (EDF1) gene, encodes complete protein.
CR541914 - Homo sapiens full open reading frame cDNA clone RZPDo834G0633D for gene EDF1, endothelial differentiation-related factor 1; complete cds, without stopcodon.
AB590058 - Synthetic construct DNA, clone: pFN21AB8239, Homo sapiens EDF1 gene for endothelial differentiation-related factor 1, without stop codon, in Flexi system.
AB002283 - Homo sapiens mRNA for hMBF1beta, complete cds.

-  Other Names for This Gene
  Alternate Gene Symbols: EDF1_HUMAN, NM_003792, NP_003783, O60869, Q5T5T2, Q9UIM1
UCSC ID: uc004cjt.1
RefSeq Accession: NM_003792
Protein: O60869 (aka EDF1_HUMAN)
CCDS: CCDS7011.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_003792.2
exon count: 5CDS single in 3' UTR: no RNA size: 658
ORF size: 447CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1094.00frame shift in genome: no % Coverage: 97.26
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.