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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 Gene Expression and Formation of HIV elongation complex in the absence of HIV Tat. 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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for EAF1 Gene

Promoters and enhancers for EAF1 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
GH03I015426 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.8 816 2.8 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 ZNF213 E2F8 METTL6 GC03P015427 EAF1 GC03M015433 RNU6-1024P
GH03I015519 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 32.6 +93.6 93604 2.5 ZFHX2 ZSCAN4 CBFA2T3 ZNF398 EGR2 COLQ EAF1 HACL1 ANKRD28 SH3BP5 METTL6 CAPN7 PIR32923
GH03I015499 Enhancer 0.8 FANTOM5 ENCODE dbSUPER 51.2 +72.4 72427 1.2 CEBPB ZIC2 LOC105376964 EAF1 COLQ METTL6 RNU6-1024P CAPN7 EAF1-AS1 COL6A4P1 HACL1 ANKRD28
GH03I015555 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 23.6 +129.6 129584 2.1 BMI1 IRF4 RAD21 RFX5 ZNF143 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 PIR61561 COLQ EAF1 HACL1 ANKRD28 SH3BP5 METTL6 CAPN7 BTD
GH03I015803 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 20.3 +378.2 378150 3.7 HDGF PKNOX1 ATF1 SMAD1 YBX1 IRF4 TCF12 ZNF207 FOS ATF7 EAF1 SH3BP5 IMPDH1P8 ANKRD28 HACL1 DPH3 COLQ EAF1-AS1 GC03M015809 LOC101927647
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EAF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EAF1 gene promoter:

Genomic Locations for EAF1 Gene

Genomic Locations for EAF1 Gene
chr3:15,427,355-15,450,635
(GRCh38/hg38)
Size:
23,281 bases
Orientation:
Plus strand
chr3:15,468,862-15,484,120
(GRCh37/hg19)

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

No Post-translational modifications

Other Protein References for EAF1 Gene

No data available for DME Specific Peptides for EAF1 Gene

Domains & Families for EAF1 Gene

Gene Families for EAF1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

Function for EAF1 Gene

Molecular function for EAF1 Gene

UniProtKB/Swiss-Prot Function:
Acts as a transcriptional transactivator of ELL and ELL2 elongation activities.

Phenotypes From GWAS Catalog for EAF1 Gene

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

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (4)
  • Nucleoplasm (2)
  • Vesicles (2)
  • Cytokinetic bridge (1)
See all subcellular structures

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 by RNA polymerase II 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

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 33 34
  • 99.75 (n)
dog
(Canis familiaris)
Mammalia EAF1 33 34
  • 93.66 (n)
mouse
(Mus musculus)
Mammalia Eaf1 33 16 34
  • 89.05 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 88 (a)
OneToMany
-- 34
  • 88 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Eaf1 33
  • 86.57 (n)
cow
(Bos Taurus)
Mammalia EAF1 33 34
  • 85.88 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EAF1 34
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves EAF1 33 34
  • 80.05 (n)
lizard
(Anolis carolinensis)
Reptilia EAF1 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eaf1 33
  • 73.1 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32337 33
zebrafish
(Danio rerio)
Actinopterygii eaf1 33 34
  • 71.05 (n)
wufb52f06 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3372 33
fruit fly
(Drosophila melanogaster)
Insecta Eaf 34
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea eaf-1 34
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs1000028728 -- 15,426,696(+) T/C upstream_transcript_variant
rs1000062227 -- 15,427,819(+) C/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs1000121476 -- 15,427,090(+) G/A upstream_transcript_variant
rs1000349960 -- 15,427,608(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000493418 -- 15,441,258(+) C/G 3_prime_UTR_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

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)

Additional Variant Information 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

Additional Disease Information for 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 SE … Conaway RC (Proceedings of the National Academy of Sciences of the United States of America 2005) 3 4 22 58
  2. EAF1, a novel ELL-associated factor that is delocalized by expression of the MLL-ELL fusion protein. (PMID: 11418481) Simone F … Thirman MJ (Blood 2001) 2 3 4 58
  3. The little elongation complex regulates small nuclear RNA transcription. (PMID: 22195968) Smith ER … Shilatifard A (Molecular cell 2011) 3 4 58
  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 letters 2007) 3 22 58
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58

Products for EAF1 Gene

Sources for EAF1 Gene

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