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Aliases for EDF1 Gene

Aliases for EDF1 Gene

  • Endothelial Differentiation Related Factor 1 2 3 5
  • Endothelial Differentiation-Related Factor 1 2 3
  • EDF-1 3 4
  • MBF1 3 4
  • Multiprotein Bridging Factor-1 2
  • Multiprotein Bridging Factor 1 3
  • Multiprotein-Bridging Factor 1 4
  • CFAP280 3

External Ids for EDF1 Gene

Previous GeneCards Identifiers for EDF1 Gene

  • GC09M130979
  • GC09M131446
  • GC09M133197
  • GC09M135113
  • GC09M137032
  • GC09M138876
  • GC09M139756
  • GC09M109215

Summaries for EDF1 Gene

Entrez Gene Summary for EDF1 Gene

  • 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]

GeneCards Summary for EDF1 Gene

EDF1 (Endothelial Differentiation Related Factor 1) is a Protein Coding gene. Diseases associated with EDF1 include Deafness, Autosomal Recessive 79 and Deafness, Autosomal Recessive 33. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding.

UniProtKB/Swiss-Prot for EDF1 Gene

  • 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.

Gene Wiki entry for EDF1 Gene

Additional gene information for EDF1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EDF1 Gene

Genomics for EDF1 Gene

GeneHancer (GH) Regulatory Elements for EDF1 Gene

Promoters and enhancers for EDF1 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
GH09I136864 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.3 280 2.3 PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 ZNF143 EDF1 EHMT1 SDCCAG3 ANAPC2 LOC651337 INPP5E DPH7 PHPT1 RABL6 LCN12
GH09I136846 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 0.4 +11.6 11561 16 HDGF PKNOX1 CLOCK ARID4B NEUROD1 SIN3A DMAP1 ZNF2 ZBTB7B YY1 PHPT1 MAMDC4 EHMT1 SDCCAG3 LOC651337 ANAPC2 DPH7 LCN12 DPP7 EDF1
GH09I136876 Enhancer 0.8 ENCODE 0.4 -8.9 -8948 0 HDAC1 TCF12 PHF21A CEBPB NFIC KLF16 SMARCA4 CEBPA HMBOX1 KDM1A EDF1 TRAF2
GH09I136875 Enhancer 0.8 ENCODE 0.4 -9.0 -9048 0.1 HDAC1 TCF12 PHF21A CEBPB NFIC KLF16 SMARCA4 CEBPA HMBOX1 KDM1A TRAF2 EDF1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EDF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EDF1 gene promoter:

Genomic Locations for EDF1 Gene

Genomic Locations for EDF1 Gene
chr9:136,862,114-136,866,336
(GRCh38/hg38)
Size:
4,223 bases
Orientation:
Minus strand
chr9:139,756,571-139,760,738
(GRCh37/hg19)

Genomic View for EDF1 Gene

Genes around EDF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EDF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EDF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EDF1 Gene

Proteins for EDF1 Gene

  • Protein details for EDF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60869-EDF1_HUMAN
    Recommended name:
    Endothelial differentiation-related factor 1
    Protein Accession:
    O60869
    Secondary Accessions:
    • Q5T5T2
    • Q9UIM1

    Protein attributes for EDF1 Gene

    Size:
    148 amino acids
    Molecular mass:
    16369 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=CAI12698.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EDF1 Gene

    Alternative splice isoforms for EDF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EDF1 Gene

Post-translational modifications for EDF1 Gene

Other Protein References for EDF1 Gene

No data available for DME Specific Peptides for EDF1 Gene

Domains & Families for EDF1 Gene

Gene Families for EDF1 Gene

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

Suggested Antigen Peptide Sequences for EDF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60869

UniProtKB/Swiss-Prot:

EDF1_HUMAN :
  • 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).
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).
genes like me logo Genes that share domains with EDF1: view

Function for EDF1 Gene

Molecular function for EDF1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
Down-regulated by HIV-1 Tat or phorbol ester (TPA) treatment in endothelial cells (at mRNA and protein levels).

Gene Ontology (GO) - Molecular Function for EDF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 NOT DNA binding transcription factor activity IMP 12040021
GO:0003713 transcription coactivator activity IMP 10567391
GO:0003723 RNA binding IDA,HDA 22658674
GO:0004402 NOT histone acetyltransferase activity IDA 12040021
GO:0005515 protein binding IPI 10567391
genes like me logo Genes that share ontologies with EDF1: view
genes like me logo Genes that share phenotypes with EDF1: view

Clone Products

  • Addgene plasmids for EDF1

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EDF1 Gene

Localization for EDF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EDF1 Gene

Cytoplasm. Nucleus. Note=Also nuclear upon binding to NR5A1 and treatment of cells with TPA or forskolin.

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 EDF1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EDF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular TAS 9813014
GO:0005634 nucleus NAS 8164657
GO:0005669 colocalizes_with transcription factor TFIID complex IDA 12040021
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA,IDA 10567391
genes like me logo Genes that share ontologies with EDF1: view

Pathways & Interactions for EDF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EDF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated TAS 8164657
GO:0007275 multicellular organism development IEA,TAS --
GO:0019216 regulation of lipid metabolic process TAS 12040021
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with EDF1: view

No data available for Pathways by source and SIGNOR curated interactions for EDF1 Gene

Drugs & Compounds for EDF1 Gene

(3) Drugs for EDF1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0

(1) Additional Compounds for EDF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EDF1: view

Transcripts for EDF1 Gene

Unigene Clusters for EDF1 Gene

Endothelial differentiation-related factor 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for EDF1

Alternative Splicing Database (ASD) splice patterns (SP) for EDF1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6
SP1: - -
SP2: -
SP3:

Relevant External Links for EDF1 Gene

GeneLoc Exon Structure for
EDF1
ECgene alternative splicing isoforms for
EDF1

Expression for EDF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EDF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EDF1 Gene

This gene is overexpressed in Lavage (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EDF1 Gene



Protein tissue co-expression partners for EDF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EDF1 Gene:

EDF1

SOURCE GeneReport for Unigene cluster for EDF1 Gene:

Hs.174050

mRNA Expression by UniProt/SwissProt for EDF1 Gene:

O60869-EDF1_HUMAN
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.

Evidence on tissue expression from TISSUES for EDF1 Gene

  • Liver(4.5)
  • Pancreas(4.5)
  • Nervous system(3.8)
  • Heart(3)
  • Muscle(2.9)
  • Stomach(2.6)
  • Kidney(2.4)
  • Thyroid gland(2.3)
  • Adrenal gland(2.2)
  • Lymph node(2.2)
  • Skin(2.2)
  • Spleen(2.2)
  • Bone marrow(2.1)
  • Gall bladder(2.1)
  • Intestine(2.1)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with EDF1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for EDF1 Gene

Orthologs for EDF1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EDF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EDF1 33 34
  • 99.73 (n)
dog
(Canis familiaris)
Mammalia EDF1 33 34
  • 90.99 (n)
cow
(Bos Taurus)
Mammalia EDF1 34 33
  • 89.86 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Edf1 33 16 34
  • 88.96 (n)
rat
(Rattus norvegicus)
Mammalia Edf1 33
  • 88.74 (n)
oppossum
(Monodelphis domestica)
Mammalia EDF1 34
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EDF1 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves EDF1 33 34
  • 80.63 (n)
lizard
(Anolis carolinensis)
Reptilia EDF1 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia edf1 33
  • 81.46 (n)
Str.8917 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.5866 33
zebrafish
(Danio rerio)
Actinopterygii edf1 33 34
  • 77.78 (n)
zgc73192 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1654 33
fruit fly
(Drosophila melanogaster)
Insecta mbf1 33 34 35
  • 66.18 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004990 33
  • 63.36 (n)
worm
(Caenorhabditis elegans)
Secernentea mbf-1 33 34
  • 55.33 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR526C 33
  • 53.7 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F25014g 33
  • 52.58 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MBF1 33 34 36
  • 50.72 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons MBF1B 33
  • 57.44 (n)
rice
(Oryza sativa)
Liliopsida Os08g0366100 33
  • 57.44 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC83.17 33
  • 50.23 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1189 33
Species where no ortholog for EDF1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EDF1 Gene

ENSEMBL:
Gene Tree for EDF1 (if available)
TreeFam:
Gene Tree for EDF1 (if available)

Paralogs for EDF1 Gene

No data available for Paralogs for EDF1 Gene

Variants for EDF1 Gene

Sequence variations from dbSNP and Humsavar for EDF1 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000069803 -- 136,867,125(-) C/T upstream_transcript_variant
rs1000120107 -- 136,866,907(-) A/G upstream_transcript_variant
rs1000576165 -- 136,865,973(-) A/C intron_variant
rs1000977063 -- 136,862,499(-) A/C downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1001134756 -- 136,868,316(-) G/A/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for EDF1 Gene

Variant ID Type Subtype PubMed ID
esv2422220 CNV deletion 17116639
esv2759720 CNV loss 17122850
nsv469918 CNV loss 18288195
nsv524322 CNV loss 19592680
nsv818738 CNV gain 17921354
nsv8582 CNV gain 18304495
nsv951205 CNV deletion 24416366

Variation tolerance for EDF1 Gene

Residual Variation Intolerance Score: 41.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.07; 1.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EDF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EDF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EDF1 Gene

Disorders for EDF1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for EDF1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
deafness, autosomal recessive 79
  • dfnb79
deafness, autosomal recessive 33
  • dfnb33
- elite association - COSMIC cancer census association via MalaCards
Search EDF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EDF1

genes like me logo Genes that share disorders with EDF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EDF1 Gene

Publications for EDF1 Gene

  1. The dual role of endothelial differentiation-related factor-1 in the cytosol and nucleus: modulation by protein kinase A. (PMID: 15112053) Ballabio E … Maier JA (Cellular and molecular life sciences : CMLS 2004) 2 3 4 22 58
  2. EDF-1, a novel gene product down-regulated in human endothelial cell differentiation. (PMID: 9813014) Dragoni I … Maier JA (The Journal of biological chemistry 1998) 2 3 4 22 58
  3. Interaction between endothelial differentiation-related factor-1 and calmodulin in vitro and in vivo. (PMID: 10816571) Mariotti M … Maier JA (The Journal of biological chemistry 2000) 3 4 22 58
  4. The role of human MBF1 as a transcriptional coactivator. (PMID: 10567391) Kabe Y … Handa H (The Journal of biological chemistry 1999) 3 4 22 58
  5. Characterization of the human EDF-1 minimal promoter: involvement of NFY and Sp1 in the regulation of basal transcription. (PMID: 16567061) Bolognese F … Maier JA (Gene 2006) 3 22 58

Products for EDF1 Gene

  • Addgene plasmids for EDF1

Sources for EDF1 Gene

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