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Aliases for EAF1 Gene

Aliases for EAF1 Gene

  • ELL Associated Factor 1 2 3 5

External Ids for EAF1 Gene

Previous GeneCards Identifiers for EAF1 Gene

  • GC03P015398
  • GC03P015444
  • GC03P015443

Summaries for EAF1 Gene

GeneCards Summary for EAF1 Gene

EAF1 (ELL Associated Factor 1) is a Protein Coding gene. Diseases associated with EAF1 include eaf. An important paralog of this gene is EAF2.

UniProtKB/Swiss-Prot for EAF1 Gene

  • Acts as a transcriptional transactivator of ELL and ELL2 elongation activities.

Gene Wiki entry for EAF1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EAF1 Gene

Genomics for EAF1 Gene

Regulatory Elements for EAF1 Gene

Promoters for EAF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EAF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for EAF1 Gene

Chromosome:
3
Start:
15,427,355 bp from pter
End:
15,450,635 bp from pter
Size:
23,281 bases
Orientation:
Plus strand

Genomic View for EAF1 Gene

Genes around EAF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EAF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EAF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EAF1 Gene

Proteins for EAF1 Gene

  • Protein details for EAF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96JC9-EAF1_HUMAN
    Recommended name:
    ELL-associated factor 1
    Protein Accession:
    Q96JC9
    Secondary Accessions:
    • B4E3F5
    • Q8IW10

    Protein attributes for EAF1 Gene

    Size:
    268 amino acids
    Molecular mass:
    29042 Da
    Quaternary structure:
    • Component of the super elongation complex (SEC), at least composed of EAF1, EAF2, CDK9, MLLT3/AF9, AFF (AFF1 or AFF4), the P-TEFb complex and ELL (ELL, ELL2 or ELL3). Interacts with ELL and ELL2.

    Alternative splice isoforms for EAF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EAF1 Gene

Proteomics data for EAF1 Gene at MOPED

Post-translational modifications for EAF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EAF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EAF1 Gene

Domains & Families for EAF1 Gene

Protein Domains for EAF1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EAF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96JC9

UniProtKB/Swiss-Prot:

EAF1_HUMAN :
  • Belongs to the EAF family.
Family:
  • Belongs to the EAF family.
genes like me logo Genes that share domains with EAF1: view

No data available for Gene Families for EAF1 Gene

Function for EAF1 Gene

Molecular function for EAF1 Gene

UniProtKB/Swiss-Prot Function:
Acts as a transcriptional transactivator of ELL and ELL2 elongation activities.
genes like me logo Genes that share phenotypes with EAF1: view

Animal Models for EAF1 Gene

MGI Knock Outs for EAF1:
  • Eaf1 tm1b(EUCOMM)Wtsi

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EAF1 Gene

Localization for EAF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EAF1 Gene

Nucleus speckle. Nucleus, Cajal body.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EAF1 Gene COMPARTMENTS Subcellular localization image for EAF1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 2
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for EAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0015030 Cajal body IEA --
GO:0032783 ELL-EAF complex IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with EAF1: view

Pathways & Interactions for EAF1 Gene

SuperPathways for EAF1 Gene

No Data Available

SIGNOR curated interactions for EAF1 Gene

Activates:

Gene Ontology (GO) - Biological Process for EAF1 Gene

None

No data available for Pathways by source for EAF1 Gene

Drugs & Compounds for EAF1 Gene

No Compound Related Data Available

Transcripts for EAF1 Gene

Unigene Clusters for EAF1 Gene

ELL associated factor 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EAF1 Gene

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

Relevant External Links for EAF1 Gene

GeneLoc Exon Structure for
EAF1
ECgene alternative splicing isoforms for
EAF1

Expression for EAF1 Gene

mRNA expression in normal human tissues for EAF1 Gene

Protein differential expression in normal tissues from HIPED for EAF1 Gene

This gene is overexpressed in Placenta (43.1) and Fetal ovary (25.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for EAF1 Gene



SOURCE GeneReport for Unigene cluster for EAF1 Gene Hs.716733

mRNA Expression by UniProt/SwissProt for EAF1 Gene

Q96JC9-EAF1_HUMAN
Tissue specificity: Strongly expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, prostate, testis, small intestine and colon. Poorly expressed in thymus.
genes like me logo Genes that share expression patterns with EAF1: view

Protein tissue co-expression partners for EAF1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for EAF1 Gene

Orthologs for EAF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EAF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EAF1 36
  • 100 (a)
OneToOne
EAF1 35
  • 99.75 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia EAF1 36
  • 71 (a)
OneToOne
EAF1 35
  • 85.88 (n)
  • 93.13 (a)
dog
(Canis familiaris)
Mammalia EAF1 35
  • 93.66 (n)
  • 98.88 (a)
EAF1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eaf1 16
Eaf1 35
  • 89.05 (n)
  • 98.13 (a)
Eaf1 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 88 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia EAF1 36
  • 51 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eaf1 35
  • 86.57 (n)
  • 95.9 (a)
chicken
(Gallus gallus)
Aves EAF1 35
  • 80.05 (n)
  • 86.49 (a)
EAF1 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EAF1 36
  • 83 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.32337 35
tropical clawed frog
(Silurana tropicalis)
Amphibia eaf1 35
  • 73.1 (n)
  • 81.08 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3372 35
zebrafish
(Danio rerio)
Actinopterygii eaf1 36
  • 78 (a)
OneToOne
eaf1 35
  • 71.05 (n)
  • 78.09 (a)
wufb52f06 35
fruit fly
(Drosophila melanogaster)
Insecta Eaf 36
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea eaf-1 36
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 24 (a)
OneToMany
Species with no ortholog for EAF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EAF1 Gene

ENSEMBL:
Gene Tree for EAF1 (if available)
TreeFam:
Gene Tree for EAF1 (if available)

Paralogs for EAF1 Gene

Paralogs for EAF1 Gene

(1) SIMAP similar genes for EAF1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with EAF1: view

Variants for EAF1 Gene

Sequence variations from dbSNP and Humsavar for EAF1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1563416 -- 15,432,257(-) GGAAA(C/T)ATGAT intron-variant
rs2290535 -- 15,432,008(-) CTCCA(C/T)CTGAT intron-variant
rs3210238 -- 15,441,624(+) TTGAG(G/T)CCAGG utr-variant-3-prime
rs3210239 -- 15,441,644(+) CCAGC(C/T)TGGGC utr-variant-3-prime
rs5846869 -- 15,432,271(+) CTCTG(-/T)TTATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EAF1 Gene

Variant ID Type Subtype PubMed ID
nsv834621 CNV Gain 17160897
nsv834622 CNV Gain 17160897
nsv876582 CNV Gain 21882294

Variation tolerance for EAF1 Gene

Residual Variation Intolerance Score: 60.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.14; 23.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EAF1 Gene

HapMap Linkage Disequilibrium report
EAF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EAF1 Gene

Disorders for EAF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EAF1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
eaf
  • eosinophilic angiocentric fibrosis
- elite association - COSMIC cancer census association via MalaCards
Search EAF1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EAF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EAF1
genes like me logo Genes that share disorders with EAF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EAF1 Gene

Publications for EAF1 Gene

  1. EAF1, a novel ELL-associated factor that is delocalized by expression of the MLL-ELL fusion protein. (PMID: 11418481) Simone F. … Thirman M.J. (Blood 2001) 2 3 4 67
  2. FB1, an E2A fusion partner in childhood leukemia, interacts with U19/EAF2 and inhibits its transcriptional activity. (PMID: 17395368) Jiang F. … Wang Z. (Cancer Lett. 2007) 3 23
  3. ELL-associated factors 1 and 2 are positive regulators of RNA polymerase II elongation factor ELL. (PMID: 16006523) Kong S.E. … Conaway R.C. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 23
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for EAF1 Gene

Sources for EAF1 Gene

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