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Aliases for ELL Gene

Aliases for ELL Gene

  • Elongation Factor For RNA Polymerase II 2 3 5
  • Eleven-Nineteen Lysine-Rich Leukemia Protein 3 4
  • Protein Phosphatase 1, Regulatory Subunit 68 2 3
  • Elongation Factor RNA Polymerase II 2 3
  • C19orf17 3 4
  • ELL Gene (11-19 Lysine-Rich Leukemia Gene) 3
  • Eleven-Nineteen Lysine-Rich Leukemia Gene 2
  • RNA Polymerase II Elongation Factor ELL 3
  • Chromosome 19 Open Reading Frame 17 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 Gene Expression and Formation of HIV-1 elongation complex containing HIV-1 Tat. Gene Ontology (GO) annotations related to this gene include phosphatase binding. An important paralog of this gene is ELL2.

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

Additional gene information for ELL Gene

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

Genomics for ELL Gene

GeneHancer (GH) Regulatory Elements for ELL Gene

Promoters and enhancers for ELL 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
GH19J018512 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 669.7 +4.3 4318 10.5 CLOCK MLX DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 NFYC SSRP1 ELL SSBP4 FKBP8 LRRC25 PGPEP1 IL12RB1 JUND KXD1 UPF1 IFI30
GH19J018523 Enhancer 0.3 ENCODE 650.7 -1.8 -1808 0.5 ZBTB33 ELL ENSG00000268938
GH19J018587 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 40 -67.3 -67311 3.6 CLOCK MLX DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 SSRP1 REX1BD ENSG00000268030 UPF1 MAU2 ENSG00000268938 NR2C2AP IQCN ENSG00000269191 ELL MEF2B
GH19J018315 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 22.2 +202.1 202128 9.4 MLX DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC SSRP1 ZNF610 LSM4 IQCN UPF1 ELL ENSG00000268030 ENSG00000268938 COLGALT1 ENSG00000269439 ENSG00000269191 PGPEP1
GH19J018086 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 20.3 +432.8 432814 5.9 HDGF PKNOX1 ZNF493 ZFP64 IRF4 ZNF48 TCF12 ZNF121 ZNF766 ZNF213 IL12RB1 UPF1 ENSG00000268030 IQCN ENSG00000268938 GTPBP3 ENSG00000269191 SUGP2 ELL COLGALT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ELL on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for ELL Gene

Genomic Locations for ELL Gene
chr19:18,442,663-18,522,129
(GRCh38/hg38)
Size:
79,467 bases
Orientation:
Minus strand
chr19:18,553,473-18,632,937
(GRCh37/hg19)

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. Interacts with USPL1 (PubMed:24413172).

    Three dimensional structures from OCA and Proteopedia for ELL Gene

neXtProt entry for ELL Gene

Post-translational modifications for ELL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ELL Gene

No data available for DME Specific Peptides for ELL Gene

Domains & Families for ELL Gene

Gene Families for ELL Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

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

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.
GENATLAS Biochemistry:
eleven-nineteen lysine-rich leukemia gene,fused with HRX(MLL) in t(11;19) acute lymphoblastic leukemia

Phenotypes From GWAS Catalog for ELL Gene

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

Animal Models for ELL Gene

MGI Knock Outs for ELL:
  • Ell Ell<tm1Hhi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELL

Clone Products

  • Addgene plasmids for ELL

No data available for Enzyme Numbers (IUBMB) , 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
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 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:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0008023 transcription elongation factor complex IEA,IDA 22195968
GO:0015030 Cajal body IEA,IDA 22195968
GO:0016607 nuclear speck IEA,IDA 19389623
genes like me logo Genes that share ontologies with ELL: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ELL Gene

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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II TAS,IEA --
GO:0006368 transcription elongation from RNA polymerase II promoter IEA,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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELL

Clone Products

  • Addgene plasmids for ELL

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



Protein tissue co-expression partners for ELL Gene

NURSA nuclear receptor signaling pathways regulating expression of ELL Gene:

ELL

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.

Evidence on tissue expression from TISSUES for ELL Gene

  • Nervous system(4.4)
  • Bone marrow(2.1)
  • Intestine(2)
genes like me logo Genes that share expression patterns with ELL: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ELL Gene

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 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ELL 34 33
  • 87.93 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ELL 34 33
  • 86.19 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ell 33
  • 80.32 (n)
mouse
(Mus musculus)
Mammalia Ell 16 34 33
  • 80.31 (n)
oppossum
(Monodelphis domestica)
Mammalia ELL 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 66 (a)
OneToMany
-- 34
  • 48 (a)
OneToMany
chicken
(Gallus gallus)
Aves ELL 34 33
  • 71.54 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ELL 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ell 33
  • 68.02 (n)
Str.3533 33
zebrafish
(Danio rerio)
Actinopterygii ell 34 33
  • 64.07 (n)
OneToOne
wufc60b11 33
fruit fly
(Drosophila melanogaster)
Insecta Su(Tpl) 34
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1855 34
  • 24 (a)
OneToMany
Species where no ortholog for ELL 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ELL: view image

Paralogs for ELL Gene

Paralogs for ELL Gene

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

  • ELL_HUMAN
  • Q75MS0_HUMAN
  • U3KQ90_HUMAN
  • U3KQA3_HUMAN
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 Variation AA Info Type
rs1000063108 -- 18,444,100(-) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000070979 -- 18,448,025(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000074114 -- 18,474,349(-) CC/C genic_upstream_transcript_variant, intron_variant
rs1000112395 -- 18,485,328(-) C/A genic_upstream_transcript_variant, intron_variant
rs1000113227 -- 18,522,789(-) A/G upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv2609171 CNV insertion 19546169
esv2657907 CNV deletion 23128226
esv3401601 CNV duplication 20981092
esv3643838 CNV loss 21293372
esv3643839 CNV gain 21293372
nsv1055794 CNV gain 25217958
nsv1061733 CNV gain 25217958
nsv952420 CNV deletion 24416366

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)

Additional Variant Information for ELL Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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
  • aml
- 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}.
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 JW (Science (New York, N.Y.) 1996) 2 3 4 22 58
  2. 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
  3. ELL-associated factor 2 (EAF2), a functional homolog of EAF1 with alternative ELL binding properties. (PMID: 12446457) Simone F … Thirman MJ (Blood 2003) 3 4 22 58
  4. Cloning of ELL, a gene that fuses to MLL in a t(11;19)(q23;p13.1) in acute myeloid leukemia. (PMID: 7991593) Thirman MJ … Rowley JD (Proceedings of the National Academy of Sciences of the United States of America 1994) 2 3 4 58
  5. A role for the Cajal-body-associated SUMO isopeptidase USPL1 in snRNA transcription mediated by RNA polymerase II. (PMID: 24413172) Hutten S … Lamond AI (Journal of cell science 2014) 3 4 58

Products for ELL Gene

Sources for ELL Gene

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