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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. Among its related pathways are Formation of HIV elongation complex in the absence of HIV Tat and Gene Expression. 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 , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EAF1 Gene

Genomics for EAF1 Gene

Regulatory Elements for EAF1 Gene

Enhancers for EAF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G015499 1.1 FANTOM5 ENCODE dbSUPER 51.2 +72.4 72427 1.2 CEBPB KDM1A ZIC2 TBX21 EAF1 COLQ METTL6 RNU6-1024P CAPN7 EAF1-AS1 COL6A4P1 HACL1 ANKRD28 SH3BP5
GH03G015519 1.5 FANTOM5 Ensembl ENCODE dbSUPER 32.6 +93.6 93604 2.5 RNF2 ZSCAN4 MAX ZNF398 FOXA1 ZFHX2 JUND CBX8 ATF3 SCRT2 COLQ EAF1 HACL1 ANKRD28 SH3BP5 METTL6 CAPN7 PIR32923
GH03G015555 1.8 FANTOM5 Ensembl ENCODE dbSUPER 23.6 +129.6 129584 2.1 TBL1XR1 BMI1 RAD21 RFX5 RELB ETV6 IKZF2 CREM ZNF680 ZNF654 COLQ EAF1 HACL1 ANKRD28 SH3BP5 METTL6 CAPN7 PIR61561 BTD
GH03G015287 2.1 FANTOM5 Ensembl ENCODE dbSUPER 19.5 -134.9 -134904 10.9 HNRNPUL1 HDGF PKNOX1 ARNT SIN3A FEZF1 ZNF2 ZBTB7B YY1 CBX5 SH3BP5 CAPN7 EAF1 RPS24P10 SH3BP5-AS1 RNU6-454P COL6A4P1 RNU6-1024P EAF1-AS1 RPS3AP53
GH03G015803 1.9 FANTOM5 Ensembl ENCODE dbSUPER 20.3 +378.2 378151 3.7 HDGF PKNOX1 ATF1 YBX1 TCF12 GATA2 ELK1 CBX5 ZNF207 FOS EAF1 SH3BP5 IMPDH1P8 ANKRD28 HACL1 DPH3 COLQ EAF1-AS1 GC03M015809 LOC101927647
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EAF1 on UCSC Golden Path with GeneCards custom track

Promoters for EAF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000149068 545 2201 PKNOX1 CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766

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

Post-translational modifications for EAF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EAF1 Gene

No data available for DME Specific Peptides for EAF1 Gene

Domains & Families for EAF1 Gene

Protein Domains for EAF1 Gene

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.

Gene Ontology (GO) - Molecular Function for EAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21516116
genes like me logo Genes that share ontologies with EAF1: view
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for EAF1
  • Applied Biological Materials Clones for EAF1

No data available for Enzyme Numbers (IUBMB) , 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
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 EAF1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for EAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0008023 transcription elongation factor complex IDA 22195968
GO:0015030 Cajal body IEA --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with EAF1: view

Pathways & Interactions for EAF1 Gene

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

SIGNOR curated interactions for EAF1 Gene

Activates:

Gene Ontology (GO) - Biological Process for EAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter TAS --
GO:0006368 transcription elongation from RNA polymerase II promoter TAS --
genes like me logo Genes that share ontologies with EAF1: view

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for EAF1
  • Applied Biological Materials Clones for EAF1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for EAF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of EAF1 Gene:

EAF1

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.

Evidence on tissue expression from TISSUES for EAF1 Gene

  • Bone marrow(4.4)
  • Nervous system(4.3)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with EAF1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 99.75 (n)
dog
(Canis familiaris)
Mammalia EAF1 34 35
  • 93.66 (n)
mouse
(Mus musculus)
Mammalia Eaf1 34 16 35
  • 89.05 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 88 (a)
OneToMany
-- 35
  • 88 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Eaf1 34
  • 86.57 (n)
cow
(Bos Taurus)
Mammalia EAF1 34 35
  • 85.88 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EAF1 35
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves EAF1 34 35
  • 80.05 (n)
lizard
(Anolis carolinensis)
Reptilia EAF1 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eaf1 34
  • 73.1 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32337 34
zebrafish
(Danio rerio)
Actinopterygii eaf1 34 35
  • 71.05 (n)
wufb52f06 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3372 34
fruit fly
(Drosophila melanogaster)
Insecta Eaf 35
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea eaf-1 35
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 24 (a)
OneToMany
Species where no ortholog for EAF1 was found in the sources mined by GeneCards:
  • 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
rs1000028728 -- 15,426,696(+) TTCAA(C/T)TCACC intron-variant, upstream-variant-2KB
rs1000062227 -- 15,427,819(+) AGGAA(C/T)ATTGC upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs1000121476 -- 15,427,090(+) GCCTG(A/G)GTGGG intron-variant, upstream-variant-2KB
rs1000349960 -- 15,427,608(+) TCACC(C/T)CCACG upstream-variant-2KB, utr-variant-5-prime
rs1000493418 -- 15,441,258(+) ACCCA(C/G)CAGAG utr-variant-3-prime

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

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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. 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 4 22 64
  2. 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 64
  3. The little elongation complex regulates small nuclear RNA transcription. (PMID: 22195968) Smith E.R. … Shilatifard A. (Mol. Cell 2011) 3 4 64
  4. 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 22 64
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64

Products for EAF1 Gene

  • Addgene plasmids for EAF1

Sources for EAF1 Gene

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