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Aliases for ELL Gene

Aliases for ELL Gene

  • Elongation Factor RNA Polymerase II 2 3
  • 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
  • RNA Polymerase II Elongation Factor ELL 3
  • 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 Symbols for ELL Gene

  • C19orf17

Summaries for ELL Gene

GeneCards Summary for ELL Gene

ELL (Elongation Factor RNA Polymerase II) is a Protein Coding gene. Diseases associated with ELL include leukemia. Among its related pathways are Disease and Gene Expression. 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

Genomic Location for ELL Gene

Start:
18,442,663 bp from pter
End:
18,522,127 bp from pter
Size:
79,465 bases
Orientation:
Minus strand

Genomic View for ELL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ELL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELL Gene

Regulatory Elements 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
    Secondary Accessions:

    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:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ELL Gene

Domains for ELL Gene

Gene Families for ELL Gene

HGNC:
  • PPP1R :Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits

UniProtKB/Swiss-Prot:

ELL_HUMAN
Family:
  • Belongs to the ELL/occludin family.:
    • P55199
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.

Gene Ontology (GO) - Molecular Function for ELL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19389623
GO:0019902 phosphatase binding IDA 19389623
genes like me logo Genes that share ontologies with ELL: view

Phenotypes for ELL Gene

MGI mutant phenotypes for ELL:
inferred from 1 alleles
GenomeRNAi human phenotypes for ELL:
genes like me logo Genes that share phenotypes with ELL: view

Animal Models for ELL Gene

MGI Knock Outs for ELL:

miRNA for ELL Gene

miRTarBase miRNAs that target ELL

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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. Colocalizes with coilin in subnuclear cajal and histone locus bodies. 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.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for ELL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0008023 transcription elongation factor complex IDA 22195968
GO:0015030 Cajal body IDA 22195968
GO:0016607 nuclear speck IDA 19389623
GO:0035327 transcriptionally active chromatin IDA 23932780
genes like me logo Genes that share ontologies with ELL: view

Pathways for ELL Gene

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

Pathways by source for ELL Gene

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:0006368 transcription elongation from RNA polymerase II promoter TAS --
GO:0010467 gene expression TAS --
GO:0010923 negative regulation of phosphatase activity IDA 19389623
genes like me logo Genes that share ontologies with ELL: view

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 (8.1).

Integrated Proteomics: protein expression 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 expressions with ELL: view

Orthologs for ELL Gene

This gene was present in the common ancestor of animals.

Orthologs for ELL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ELL 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ELL 36
  • 87.93 (n)
  • 88.96 (a)
ELL 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ELL 36
  • 86.19 (n)
  • 89.89 (a)
ELL 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ell 36
  • 80.31 (n)
  • 83.86 (a)
Ell 16
Ell 37
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ELL 37
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 48 (a)
OneToMany
-- 37
  • 66 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ell 36
  • 80.32 (n)
  • 84.41 (a)
chicken
(Gallus gallus)
Aves ELL 36
  • 71.54 (n)
  • 71.76 (a)
ELL 37
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ELL 37
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ell 36
  • 68.02 (n)
  • 69.98 (a)
Str.3533 36
zebrafish
(Danio rerio)
Actinopterygii ell 36
  • 64.07 (n)
  • 62.44 (a)
ell 37
  • 56 (a)
OneToOne
wufc60b11 36
fruit fly
(Drosophila melanogaster)
Insecta Su(Tpl) 37
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1855 37
  • 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

Selected 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 MAF
rs76194 -- 18,519,770(+) CCACC(G/T)CAATG intron-variant
rs76195 -- 18,519,020(+) GTTCC(C/T)TTCTA intron-variant
rs172032 -- 18,522,945(+) ctggg(C/T)ctgct upstream-variant-2KB
rs187957 -- 18,517,706(+) aaaaa(A/T)ttttt intron-variant
rs271620 -- 18,522,627(+) AACGG(A/C/G/T)GCGCG upstream-variant-2KB

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

Relevant External Links for ELL Gene

HapMap Linkage Disequilibrium report
ELL

Disorders for ELL Gene

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.

(1) MalaCards Diseases for ELL Gene

Search for ELL Gene in MalaCards »

(1) University of Copenhagen DISEASES for ELL Gene

(5) Novoseek inferred disease relationships for ELL Gene

Disease -log(P) Hits PubMed IDs
myeloid leukemia 66.2 1
leukemia 31.1 4
acute leukemia 29.8 1
shock 0.265 2
tumors 0 1
genes like me logo Genes that share disorders with ELL: view

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
  2. 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 4 23
  3. Cloning of ELL, a gene that fuses to MLL in a t(11;19)(q23;p13.1) in acute myeloid leukemia. (PMID: 7991593) Thirman M.J. … Rowley J.D. (Proc. Natl. Acad. Sci. U.S.A. 1994) 2 3 4
  4. 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 23
  5. 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) 3 4

Products for ELL Gene

  • Addgene plasmids for ELL

Sources for ELL Gene

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