Free for academic non-profit institutions. Other users need a Commercial license

Aliases for EDF1 Gene

Aliases for EDF1 Gene

  • Endothelial Differentiation Related Factor 1 2 3
  • Endothelial Differentiation-Related Factor 1 2 5
  • 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. GO annotations related to this gene include poly(A) RNA binding and 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

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

Genomics for EDF1 Gene

Regulatory Elements for EDF1 Gene

Enhancers for EDF1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around EDF1 on UCSC Golden Path with GeneCards custom track

Promoters for EDF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EDF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for EDF1 Gene

Chromosome:
9
Start:
136,862,114 bp from pter
End:
136,866,336 bp from pter
Size:
4,223 bases
Orientation:
Minus strand

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

Proteomics data for EDF1 Gene at MOPED

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

Protein Domains for EDF1 Gene

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).
  • Contains 1 HTH cro/C1-type DNA-binding domain.
genes like me logo Genes that share domains with EDF1: view

No data available for Gene Families for EDF1 Gene

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:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with EDF1: view
genes like me logo Genes that share phenotypes with EDF1: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for EDF1 Gene COMPARTMENTS Subcellular localization image for EDF1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 3
mitochondrion 2

Gene Ontology (GO) - Cellular Components for EDF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular TAS 9813014
genes like me logo Genes that share ontologies with EDF1: view

Pathways & Interactions for EDF1 Gene

SuperPathways for EDF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EDF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated TAS 8164657
GO:0007275 multicellular organism development IEA --
GO:0045446 endothelial cell differentiation TAS 12040021
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 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:

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 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, MOPED, and MaxQB for EDF1 Gene



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.
genes like me logo Genes that share expression patterns with EDF1: view

Protein tissue co-expression partners for EDF1 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia EDF1 35
  • 89.86 (n)
  • 100 (a)
EDF1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EDF1 35
  • 90.99 (n)
  • 100 (a)
EDF1 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Edf1 35
  • 88.96 (n)
  • 98.65 (a)
Edf1 16
Edf1 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EDF1 35
  • 99.73 (n)
  • 100 (a)
EDF1 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Edf1 35
  • 88.74 (n)
  • 98.65 (a)
oppossum
(Monodelphis domestica)
Mammalia EDF1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EDF1 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves EDF1 35
  • 80.63 (n)
  • 93.24 (a)
EDF1 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EDF1 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia edf1 35
  • 81.46 (n)
  • 91.55 (a)
Str.8917 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.5866 35
zebrafish
(Danio rerio)
Actinopterygii edf1 35
  • 77.78 (n)
  • 85.82 (a)
zgc73192 35
edf1 36
  • 76 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1654 35
fruit fly
(Drosophila melanogaster)
Insecta mbf1 37
  • 65 (a)
mbf1 35
  • 66.18 (n)
  • 65.94 (a)
mbf1 36
  • 58 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004990 35
  • 63.36 (n)
  • 65.96 (a)
worm
(Caenorhabditis elegans)
Secernentea mbf-1 35
  • 55.33 (n)
  • 55.78 (a)
mbf-1 36
  • 46 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR526C 35
  • 53.7 (n)
  • 49.31 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F25014g 35
  • 52.58 (n)
  • 49.3 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MBF1 35
  • 50.72 (n)
  • 47.1 (a)
MBF1 36
  • 39 (a)
OneToOne
MBF1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons MBF1B 35
  • 57.44 (n)
  • 56.15 (a)
rice
(Oryza sativa)
Liliopsida Os08g0366100 35
  • 57.44 (n)
  • 55.38 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1189 35
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC83.17 35
  • 50.23 (n)
  • 52.08 (a)
Species with no ortholog for EDF1:
  • 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 Sequence Context AA Info Type
rs945385 -- 136,862,025(-) AGTAG(C/T)GGTTG downstream-variant-500B
rs1058974 -- 136,862,420(-) GGGAA(A/G)ATGTT intron-variant, downstream-variant-500B, utr-variant-3-prime
rs113130691 -- 136,863,703(+) AGCAC(C/T)GGTGC intron-variant
rs113599546 -- 136,862,668(+) GCTGA(C/T)GGGAA intron-variant, downstream-variant-500B
rs113795466 -- 136,867,040(+) ACGCA(A/G)GCCGG upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv2426e1 CNV Complex 17122850
nsv469918 CNV Loss 18288195
nsv894387 CNV Gain 21882294
dgv2427e1 CNV Complex 17122850
esv2422220 CNV Deletion 17116639
dgv8408n71 CNV Loss 21882294
dgv8412n71 CNV Loss 21882294
dgv8414n71 CNV Loss 21882294
dgv8415n71 CNV Loss 21882294
dgv8416n71 CNV Loss 21882294
nsv818738 CNV Gain 17921354
dgv8417n71 CNV Loss 21882294
dgv8418n71 CNV Loss 21882294
dgv8419n71 CNV Loss 21882294
nsv524322 CNV Loss 19592680
nsv894469 CNV Loss 21882294
dgv8420n71 CNV Loss 21882294
nsv894483 CNV Loss 21882294
nsv894488 CNV Loss 21882294
nsv8582 CNV Gain 18304495

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for EDF1 Gene

Disorders for EDF1 Gene

Relevant External Links for EDF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EDF1

No disorders were found for EDF1 Gene.

No data available for MalaCards , 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 J.A.M. (Cell. Mol. Life Sci. 2004) 2 3 4 23 67
  2. EDF-1, a novel gene product down-regulated in human endothelial cell differentiation. (PMID: 9813014) Dragoni I. … Maier J.A.M. (J. Biol. Chem. 1998) 2 3 23
  3. Characterization of the human EDF-1 minimal promoter: involvement of NFY and Sp1 in the regulation of basal transcription. (PMID: 16567061) Bolognese F. … Maier J.A. (Gene 2006) 3 23
  4. Differential gene regulation by selective association of transcriptional coactivators and bZIP DNA-binding domains. (PMID: 16880509) Miotto B. … Struhl K. (Mol. Cell. Biol. 2006) 3 23
  5. Interaction between endothelial differentiation-related factor-1 and calmodulin in vitro and in vivo. (PMID: 10816571) Mariotti M. … Maier J.A.M. (J. Biol. Chem. 2000) 3 23

Products for EDF1 Gene

Sources for EDF1 Gene

Content