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

Aliases for ELL3 Gene

Aliases for ELL3 Gene

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

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 transcribes snRNA genes. GO annotations related to this gene include enhancer binding. An important paralog of this gene is ELL2.

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 , CIViC 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 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
GH15G043823 1.2 ENCODE 14.5 -48.5 -48486 5.7 CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 SSRP1 GLIS1 ENSG00000249839 CTDSPL2 TUBGCP4 MFAP1 ADAL RPS3AP47 ELL3 ENSG00000259563 EIF3J-AS1 HNRNPMP1
GH15G044286 1.1 ENCODE 14.3 -511.3 -511251 3.7 HDGF PKNOX1 CREB3L1 SIN3A FEZF1 DMAP1 YY1 ZNF143 ZNF207 KLF13 CTDSPL2 ENSG00000259563 TUBGCP4 ENSG00000249839 ELL3 MFAP1 WDR76 LCMT2 ENSG00000259659 ADAL
GH15G043788 0.7 ENCODE 0.4 -11.5 -11499 1.7 HDGF RELA POLR2A EGR1 KDM5B FOS MTA2 NR2F1 BHLHE40 CEBPB ADAL STRCP1 SERF2-C15ORF63 ELL3
GH15G043781 0.3 FANTOM5 0.7 -4.2 -4176 0.4 STRCP1 MFAP1 WDR76 ELL3 SERF2-C15ORF63
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000075873 343 1601 HDGF PKNOX1 AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143

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

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

Gene Families 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

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).

Gene Ontology (GO) - Molecular Function for ELL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21729782
GO:0035326 enhancer binding ISS,IEA --
genes like me logo Genes that share ontologies with ELL3: view

Phenotypes for ELL3 Gene

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

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
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 ELL3 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for ELL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 10882741
GO:0005654 nucleoplasm TAS,IDA --
GO:0005730 nucleolus IDA --
GO:0008023 transcription elongation factor complex IEA,NAS 10882741
genes like me logo Genes that share ontologies with ELL3: view

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:0006351 transcription, DNA-templated IEA --
GO:0006354 DNA-templated transcription, elongation IDA 10882741
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter ISS,IEA --
GO:0006368 transcription elongation from RNA polymerase II promoter IEA,IDA 10882741
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:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ELL3 Gene



Protein tissue co-expression partners for ELL3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ELL3 Gene:

ELL3

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.

Evidence on tissue expression from TISSUES for ELL3 Gene

  • Nervous system(3.5)
  • Lung(3.2)
genes like me logo Genes that share expression patterns with ELL3: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia ELL3 34 35
  • 99.5 (n)
dog
(Canis familiaris)
Mammalia ELL3 34 35
  • 87.85 (n)
cow
(Bos Taurus)
Mammalia ELL3 34 35
  • 86.99 (n)
rat
(Rattus norvegicus)
Mammalia Ell3 34
  • 83.12 (n)
mouse
(Mus musculus)
Mammalia Ell3 34 16 35
  • 82.99 (n)
oppossum
(Monodelphis domestica)
Mammalia ELL3 35
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELL3 35
  • 35 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ELL3 35
  • 21 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Su(Tpl) 35
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1855 35
  • 19 (a)
OneToMany
Species where no ortholog for ELL3 was found in the sources mined by GeneCards:
  • 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
rs1000521898 -- 43,776,887(+) GGCTC(C/G)TGGAG upstream-variant-2KB, reference, missense
rs1000849516 -- 43,778,702(+) CGAGA(A/C/T)CACCC intron-variant, upstream-variant-2KB
rs1000977658 -- 43,777,190(+) GAGAA(-/AG)AGTCC utr-variant-5-prime
rs1000991580 -- 43,778,880(+) TTAGG(C/T)TGGAG intron-variant, upstream-variant-2KB
rs1001486755 -- 43,775,202(+) TTCCA(A/G)TTTCT intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv2760028 CNV gain+loss 17122850
nsv1036318 CNV gain 25217958

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)

Relevant External Links for ELL3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELL3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 22 64
  2. The little elongation complex regulates small nuclear RNA transcription. (PMID: 22195968) Smith E.R. … Shilatifard A. (Mol. Cell 2011) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for ELL3 Gene

Sources for ELL3 Gene

Content
Loading form....