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

Aliases for ELL Gene

Aliases for ELL Gene

  • Elongation Factor For RNA Polymerase II 2 3
  • Elongation Factor RNA Polymerase II 2 3 5
  • Eleven-Nineteen Lysine-Rich Leukemia Protein 3 4
  • C19orf17 3 4
  • Protein Phosphatase 1, Regulatory Subunit 68 3
  • ELL Gene (11-19 Lysine-Rich Leukemia Gene) 3
  • Eleven-Nineteen Lysine-Rich Leukemia Gene 2
  • Chromosome 19 Open Reading Frame 17 2
  • Protein Phosphatase 1 2
  • Regulatory Subunit 68 2
  • PPP1R68 3
  • ELL1 3
  • MEN 3

External Ids for ELL Gene

Previous HGNC Symbols for ELL Gene

  • C19orf17

Previous GeneCards Identifiers for ELL Gene

  • GC19M019048
  • GC19M018947
  • GC19M018399
  • GC19M018415
  • GC19M018416
  • GC19M018553
  • GC19M018116

Summaries for ELL Gene

GeneCards Summary for ELL Gene

ELL (Elongation Factor For RNA Polymerase II) is a Protein Coding gene. Diseases associated with ELL include Leukemia, Acute Myeloid. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Formation of the HIV-1 Early Elongation Complex. GO annotations related to this gene include phosphatase binding. An important paralog of this gene is ELL3.

UniProtKB/Swiss-Prot for ELL Gene

  • 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. Elongation factor 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, PubMed:23932780). Specifically required for stimulating the elongation step of RNA polymerase II- and III-dependent snRNA gene transcription (PubMed:23932780). ELL also plays an early role before its assembly into in the SEC complex by stabilizing RNA polymerase II recruitment/initiation and entry into the pause site. Required to stabilize the pre-initiation complex and early elongation.

Gene Wiki entry for ELL Gene

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

Genomics for ELL Gene

Regulatory Elements for ELL Gene

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

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

ENSRs around ELL on UCSC Golden Path with GeneCards custom track

Genomic Location for ELL Gene

Chromosome:
19
Start:
18,442,663 bp from pter
End:
18,522,129 bp from pter
Size:
79,467 bases
Orientation:
Minus strand

Genomic View for ELL Gene

Genes around ELL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ELL Gene

Proteins for ELL Gene

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

    Protein Symbol:
    P55199-ELL_HUMAN
    Recommended name:
    RNA polymerase II elongation factor ELL
    Protein Accession:
    P55199

    Protein attributes for ELL Gene

    Size:
    621 amino acids
    Molecular mass:
    68265 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). Component of the little elongation complex (LEC), at least composed of ELL (ELL, ELL2 or ELL3), ZC3H8, ICE1 and ICE2. Interacts with AFF4; the interaction is direct. Interacts with EAF1 and EAF2. Interacts with ICE1 (via N-terminus domain). Interacts with ICE2.

    Three dimensional structures from OCA and Proteopedia for ELL Gene

neXtProt entry for ELL Gene

Proteomics data for ELL Gene at MOPED

Post-translational modifications for ELL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ELL Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ELL Gene

Domains & Families for ELL Gene

Gene Families for ELL Gene

Suggested Antigen Peptide Sequences for ELL Gene

Graphical View of Domain Structure for InterPro Entry

P55199

UniProtKB/Swiss-Prot:

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

Function for ELL Gene

Molecular function for ELL Gene

GENATLAS Biochemistry:
eleven-nineteen lysine-rich leukemia gene,fused with HRX(MLL) in t(11;19) acute lymphoblastic leukemia
UniProtKB/Swiss-Prot Function:
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. Elongation factor 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, PubMed:23932780). Specifically required for stimulating the elongation step of RNA polymerase II- and III-dependent snRNA gene transcription (PubMed:23932780). ELL also plays an early role before its assembly into in the SEC complex by stabilizing RNA polymerase II recruitment/initiation and entry into the pause site. Required to stabilize the pre-initiation complex and early elongation.
genes like me logo Genes that share phenotypes with ELL: view

Animal Models for ELL Gene

MGI Knock Outs for ELL:

Animal Model Products

miRNA for ELL Gene

miRTarBase miRNAs that target ELL

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

Localization for ELL Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELL Gene

Nucleus. Nucleus speckle. Nucleus, Cajal body. Note=Colocalizes with EAF2 to nuclear speckles (PubMed:12446457). Colocalizes with coilin in subnuclear cajal and histone locus bodies (PubMed:12686606). Translocates in the LEC complex to cajal and histone locus bodies at snRNA genes in a ICE1-dependent manner. Associates to transcriptionally active chromatin at snRNA genes(PubMed:23932780). {ECO:0000269 PubMed:12446457, ECO:0000269 PubMed:12686606, ECO:0000269 PubMed:23932780}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ELL Gene COMPARTMENTS Subcellular localization image for ELL gene
Compartment Confidence
nucleus 5
cytoskeleton 4
plasma membrane 4
cytosol 2

Gene Ontology (GO) - Cellular Components for ELL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0008023 transcription elongation factor complex IEA,IDA 22195968
GO:0015629 actin cytoskeleton IDA --
genes like me logo Genes that share ontologies with ELL: view

Pathways & Interactions for ELL Gene

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

SIGNOR curated interactions for ELL Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ELL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0006366 transcription from RNA polymerase II promoter TAS --
GO:0042796 snRNA transcription from RNA polymerase III promoter IMP 23932780
GO:0045945 positive regulation of transcription from RNA polymerase III promoter IMP 23932780
GO:0050434 positive regulation of viral transcription TAS --
genes like me logo Genes that share ontologies with ELL: view

Drugs & Compounds for ELL Gene

No Compound Related Data Available

Transcripts for ELL Gene

Unigene Clusters for ELL Gene

Elongation factor RNA polymerase II:
Representative Sequences:

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

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

Relevant External Links for ELL Gene

GeneLoc Exon Structure for
ELL
ECgene alternative splicing isoforms for
ELL

Expression for ELL Gene

mRNA expression in normal human tissues for ELL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ELL Gene

This gene is overexpressed in Whole Blood (x8.1).

Protein differential expression in normal tissues from HIPED for ELL Gene

This gene is overexpressed in Serum (45.9) and Pancreatic juice (6.2).

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



SOURCE GeneReport for Unigene cluster for ELL Gene Hs.515260

mRNA Expression by UniProt/SwissProt for ELL Gene

P55199-ELL_HUMAN
Tissue specificity: Expressed in all tissues tested. Highest levels found in placenta, skeletal muscle, testis and peripheral blood leukocytes.
genes like me logo Genes that share expression patterns with ELL: view

Protein tissue co-expression partners for ELL Gene

Primer Products

Orthologs for ELL Gene

This gene was present in the common ancestor of animals.

Orthologs for ELL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ELL 35
  • 87.93 (n)
  • 88.96 (a)
ELL 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ELL 35
  • 86.19 (n)
  • 89.89 (a)
ELL 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ell 35
  • 80.31 (n)
  • 83.86 (a)
Ell 16
Ell 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ell 35
  • 80.32 (n)
  • 84.41 (a)
oppossum
(Monodelphis domestica)
Mammalia ELL 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 48 (a)
OneToMany
-- 36
  • 66 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia ELL 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves ELL 35
  • 71.54 (n)
  • 71.76 (a)
ELL 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ELL 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ell 35
  • 68.02 (n)
  • 69.98 (a)
Str.3533 35
zebrafish
(Danio rerio)
Actinopterygii ell 35
  • 64.07 (n)
  • 62.44 (a)
wufc60b11 35
ell 36
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Su(Tpl) 36
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1855 36
  • 24 (a)
OneToMany
Species with no ortholog for ELL:
  • 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ELL Gene

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

Paralogs for ELL Gene

Paralogs for ELL Gene

(1) SIMAP similar genes for ELL Gene using alignment to 4 proteins:

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

Variants for ELL Gene

Sequence variations from dbSNP and Humsavar for ELL Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs2303694 - 18,451,628(+) CAGTG(C/T)TCTGT nc-transcript-variant, reference, missense
rs35245196 - 18,450,783(+) CAGCC(A/G)CGGGG reference, missense
rs7256530 -- 18,498,280(+) ctCAG(C/T)ATTGG intron-variant
rs7256534 -- 18,475,981(+) ATGCA(C/T)GAGTG intron-variant
rs7257862 -- 18,486,648(+) AGCTC(C/T)GCACC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv911274 CNV Loss 21882294
nsv911275 CNV Loss 21882294
nsv911276 CNV Loss 21882294
esv2609171 CNV Insertion 19546169
esv2657907 CNV Deletion 23128226
nsv911281 CNV Loss 21882294
nsv911282 CNV Loss 21882294
nsv911283 CNV Loss 21882294

Variation tolerance for ELL Gene

Residual Variation Intolerance Score: 36.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.36; 41.93% 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 ELL Gene

Disorders for ELL Gene

MalaCards: The human disease database

(1) MalaCards diseases for ELL Gene - From: DISEASES

Disorder Aliases PubMed IDs
leukemia, acute myeloid
  • leukemia, acute myeloid, somatic
- elite association - COSMIC cancer census association via MalaCards
Search ELL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ELL_HUMAN
  • Note=A chromosomal aberration involving ELL is found in acute leukemias. Translocation t(11;19)(q23;p13.1) with KMT2A/MLL1. The result is a rogue activator protein. {ECO:0000269 PubMed:7991593}.

Relevant External Links for ELL

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

No data available for Genatlas for ELL Gene

Publications for ELL Gene

  1. An RNA polymerase II elongation factor encoded by the human ELL gene. (PMID: 8596958) Shilatifard A. … Conaway J.W. (Science 1996) 2 3 4 23 67
  2. 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
  3. ELL-associated factor 2 (EAF2), a functional homolog of EAF1 with alternative ELL binding properties. (PMID: 12446457) Simone F. … Thirman M.J. (Blood 2003) 3 23
  4. Identification and purification of the Holo-ELL complex. Evidence for the presence of ELL-associated proteins that suppress the transcriptional inhibitory activity of ELL. (PMID: 9556611) Shilatifard A. (J. Biol. Chem. 1998) 3 23
  5. Structure and function of RNA polymerase II elongation factor ELL. Identification of two overlapping ELL functional domains that govern its interaction with polymerase and the ternary elongation complex. (PMID: 9268387) Shilatifard A. … Conaway J.W. (J. Biol. Chem. 1997) 3 23

Products for ELL Gene

Sources for ELL Gene

Content