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Aliases for ELL3 Gene

Aliases for ELL3 Gene

  • Elongation Factor For RNA Polymerase II 3 2 3
  • Elongation Factor RNA Polymerase II-Like 3 2 5

External Ids for ELL3 Gene

Previous GeneCards Identifiers for ELL3 Gene

  • GC15M041643
  • GC15M041780
  • GC15M041852
  • GC15M044064
  • GC15M020888

Summaries for ELL3 Gene

GeneCards Summary for ELL3 Gene

ELL3 (Elongation Factor For RNA Polymerase II 3) is a Protein Coding gene. Among its related pathways are Gene Expression and RNA Polymerase II Transcription Initiation And Promoter Clearance. GO annotations related to this gene include enhancer binding. An important paralog of this gene is ELL.

UniProtKB/Swiss-Prot for ELL3 Gene

  • Enhancer-binding elongation factor that specifically binds enhancers in embryonic stem cells (ES cells), marks them, and is required for their future activation during stem cell specification. Does not only bind to enhancer regions of active genes, but also marks the enhancers that are in a poised or inactive state in ES cells and is required for establishing proper RNA polymerase II occupancy at developmentally regulated genes in a cohesin-dependent manner. Probably required for priming developmentally regulated genes for later recruitment of the super elongation complex (SEC), for transcriptional activation during differentiation. Required for recruitment of P-TEFb within SEC during differentiation. Probably preloaded on germ cell chromatin, suggesting that it may prime gene activation by marking enhancers as early as in the germ cells. Promoting epithelial-mesenchymal transition (EMT) (By similarity). Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELL3 Gene

Genomics for ELL3 Gene

Regulatory Elements for ELL3 Gene

Enhancers for ELL3 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 ELL3 on UCSC Golden Path with GeneCards custom track

Promoters for ELL3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ELL3 on UCSC Golden Path with GeneCards custom track

Genomic Location for ELL3 Gene

Chromosome:
15
Start:
43,772,600 bp from pter
End:
43,777,543 bp from pter
Size:
4,944 bases
Orientation:
Minus strand

Genomic View for ELL3 Gene

Genes around ELL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELL3 Gene

Proteins for ELL3 Gene

  • Protein details for ELL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HB65-ELL3_HUMAN
    Recommended name:
    RNA polymerase II elongation factor ELL3
    Protein Accession:
    Q9HB65
    Secondary Accessions:
    • B3KQ66
    • B3KX08
    • Q6I9Z7
    • Q9H634

    Protein attributes for ELL3 Gene

    Size:
    397 amino acids
    Molecular mass:
    45361 Da
    Quaternary structure:
    • Interacts with AFF4 (By similarity). 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). Component of the little elongation complex (LEC), at least composed of ELL (ELL, ELL2 or ELL3), ZC3H8, ICE1 and ICE2.

    Alternative splice isoforms for ELL3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ELL3 Gene

Proteomics data for ELL3 Gene at MOPED

Post-translational modifications for ELL3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ELL3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ELL3 Gene

Domains & Families for ELL3 Gene

Protein Domains for ELL3 Gene

Suggested Antigen Peptide Sequences for ELL3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HB65

UniProtKB/Swiss-Prot:

ELL3_HUMAN :
  • Belongs to the ELL/occludin family.
Family:
  • Belongs to the ELL/occludin family.
genes like me logo Genes that share domains with ELL3: view

No data available for Gene Families for ELL3 Gene

Function for ELL3 Gene

Molecular function for ELL3 Gene

UniProtKB/Swiss-Prot Function:
Enhancer-binding elongation factor that specifically binds enhancers in embryonic stem cells (ES cells), marks them, and is required for their future activation during stem cell specification. Does not only bind to enhancer regions of active genes, but also marks the enhancers that are in a poised or inactive state in ES cells and is required for establishing proper RNA polymerase II occupancy at developmentally regulated genes in a cohesin-dependent manner. Probably required for priming developmentally regulated genes for later recruitment of the super elongation complex (SEC), for transcriptional activation during differentiation. Required for recruitment of P-TEFb within SEC during differentiation. Probably preloaded on germ cell chromatin, suggesting that it may prime gene activation by marking enhancers as early as in the germ cells. Promoting epithelial-mesenchymal transition (EMT) (By similarity). Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968).

Phenotypes for ELL3 Gene

GenomeRNAi human phenotypes for ELL3:
genes like me logo Genes that share phenotypes with ELL3: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ELL3 Gene

Localization for ELL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELL3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ELL3 Gene COMPARTMENTS Subcellular localization image for ELL3 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for ELL3 Gene

Pathways & Interactions for ELL3 Gene

genes like me logo Genes that share pathways with ELL3: view

Pathways by source for ELL3 Gene

Gene Ontology (GO) - Biological Process for ELL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006366 transcription from RNA polymerase II promoter IEA,ISS --
GO:0007283 spermatogenesis NAS 10882741
GO:0042795 snRNA transcription from RNA polymerase II promoter IMP,TAS --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IEA,IDA 10882741
GO:0048863 stem cell differentiation IEA,ISS --
genes like me logo Genes that share ontologies with ELL3: view

No data available for SIGNOR curated interactions for ELL3 Gene

Drugs & Compounds for ELL3 Gene

No Compound Related Data Available

Transcripts for ELL3 Gene

Unigene Clusters for ELL3 Gene

Elongation factor RNA polymerase II-like 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ELL3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c
SP1: - - -
SP2: -
SP3: -
SP4:
SP5: - -
SP6: - -
SP7: - - - -

Relevant External Links for ELL3 Gene

GeneLoc Exon Structure for
ELL3
ECgene alternative splicing isoforms for
ELL3

Expression for ELL3 Gene

mRNA expression in normal human tissues for ELL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ELL3 Gene

This gene is overexpressed in CD4 Tcells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ELL3 Gene



SOURCE GeneReport for Unigene cluster for ELL3 Gene Hs.706346

mRNA Expression by UniProt/SwissProt for ELL3 Gene

Q9HB65-ELL3_HUMAN
Tissue specificity: Testis specific.
genes like me logo Genes that share expression patterns with ELL3: view

Protein tissue co-expression partners for ELL3 Gene

Primer Products

No data available for mRNA differential expression in normal tissues for ELL3 Gene

Orthologs for ELL3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ELL3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ELL3 35
  • 86.99 (n)
  • 81.38 (a)
ELL3 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ELL3 35
  • 87.85 (n)
  • 81.01 (a)
ELL3 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ell3 35
  • 82.99 (n)
  • 77.69 (a)
Ell3 16
Ell3 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ELL3 35
  • 99.5 (n)
  • 99.24 (a)
ELL3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ell3 35
  • 83.12 (n)
  • 78.29 (a)
oppossum
(Monodelphis domestica)
Mammalia ELL3 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELL3 36
  • 35 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ELL3 36
  • 21 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Su(Tpl) 36
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1855 36
  • 19 (a)
OneToMany
Species with no ortholog for ELL3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ELL3 Gene

ENSEMBL:
Gene Tree for ELL3 (if available)
TreeFam:
Gene Tree for ELL3 (if available)

Paralogs for ELL3 Gene

Paralogs for ELL3 Gene

(1) SIMAP similar genes for ELL3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ELL3: view

Variants for ELL3 Gene

Sequence variations from dbSNP and Humsavar for ELL3 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
VAR_018992 -
VAR_053074 -
rs12593817 -- 43,774,285(+) ATTCA(A/G)CATAA reference, missense
rs139597518 -- 43,774,225(+) CTGCT(C/T)CCAGC reference, missense
rs139911722 -- 43,773,984(+) GAGAC(A/G)GAGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ELL3 Gene

Variant ID Type Subtype PubMed ID
dgv742e1 CNV Complex 17122850

Variation tolerance for ELL3 Gene

Residual Variation Intolerance Score: 53.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.79; 73.66% 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 ELL3 Gene

Disorders for ELL3 Gene

Relevant External Links for ELL3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ELL3

No disorders were found for ELL3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ELL3 Gene

Publications for ELL3 Gene

  1. Identification, cloning, expression, and biochemical characterization of the testis-specific RNA polymerase II elongation factor ELL3. (PMID: 10882741) Miller T. … Shilatifard A. (J. Biol. Chem. 2000) 2 3 4 23 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Ell3 stimulates proliferation, drug resistance, and cancer stem cell properties of breast cancer cells via a MEK/ERK-dependent signaling pathway. (PMID: 23850691) Ahn H.J. … Park K.S. (Biochem. Biophys. Res. Commun. 2013) 3
  4. A synthetic interaction screen identifies factors selectively required for proliferation and TERT transcription in p53-deficient human cancer cells. (PMID: 23284306) Xie L. … Green M.R. (PLoS Genet. 2012) 3
  5. Human mediator subunit MED26 functions as a docking site for transcription elongation factors. (PMID: 21729782) Takahashi H. … Conaway J.W. (Cell 2011) 3

Products for ELL3 Gene

Sources for ELL3 Gene

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