Human Gene ELL (ENST00000262809.9_7) from GENCODE V47lift37
  Description: elongation factor for RNA polymerase II (from RefSeq NM_006532.4)
Gencode Transcript: ENST00000262809.9_7
Gencode Gene: ENSG00000105656.13_10
Transcript (Including UTRs)
   Position: hg19 chr19:18,553,473-18,632,880 Size: 79,408 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr19:18,555,562-18,632,865 Size: 77,304 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:18,553,473-18,632,880)mRNA (may differ from genome)Protein (621 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ELL_HUMAN
DESCRIPTION: RecName: Full=RNA polymerase II elongation factor ELL; AltName: Full=Eleven-nineteen lysine-rich leukemia protein;
FUNCTION: Elongation factor that can increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA.
SUBUNIT: Interacts with EAF1 and EAF2.
INTERACTION: P62136:PPP1CA; NbExp=2; IntAct=EBI-1245868, EBI-357253;
SUBCELLULAR LOCATION: Nucleus speckle. Nucleus, Cajal body. Note=Colocalizes with EAF2 to nuclear speckles. Also localized to Cajal (coiled) bodies.
TISSUE SPECIFICITY: Expressed in all tissues tested. Highest levels found in placenta, skeletal muscle, testis and peripheral blood leukocytes.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE: Note=A chromosomal aberration involving ELL is found in acute leukemias. Translocation t(11;19)(q23;p13.1) with MLL/HRX. The result is a rogue activator protein.
SIMILARITY: Belongs to the ELL/occludin family.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ELL.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ELL
Diseases sorted by gene-association score: leukemia, acute myeloid (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 32.64 RPKM in Testis
Total median expression: 429.45 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -849.802089-0.407 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010844 - Occludin_RNApol2_elong_fac_ELL
IPR019464 - RNA_pol_II_elong_fac_ELL

Pfam Domains:
PF07303 - Occludin homology domain
PF10390 - RNA polymerase II elongation factor ELL

SCOP Domains:
46785 - "Winged helix" DNA-binding domain
52540 - P-loop containing nucleoside triphosphate hydrolases
144292 - occludin/ELL-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2DOA - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P55199
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0019902 phosphatase binding

Biological Process:
GO:0001701 in utero embryonic development
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006368 transcription elongation from RNA polymerase II promoter
GO:0010923 negative regulation of phosphatase activity
GO:0032786 positive regulation of DNA-templated transcription, elongation
GO:0032968 positive regulation of transcription elongation from RNA polymerase II promoter
GO:0042795 snRNA transcription from RNA polymerase II promoter
GO:0042796 snRNA transcription from RNA polymerase III promoter
GO:0045945 positive regulation of transcription from RNA polymerase III promoter

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0008023 transcription elongation factor complex
GO:0015030 Cajal body
GO:0016607 nuclear speck
GO:0035327 transcriptionally active chromatin
GO:0035363 histone locus body


-  Descriptions from all associated GenBank mRNAs
  AB208794 - Homo sapiens mRNA for elongation factor RNA polymerase II variant protein.
AK225481 - Homo sapiens mRNA for elongation factor RNA polymerase II variant, clone: HSI15970.
U16282 - Human ELL mRNA, complete cds.
AK293105 - Homo sapiens cDNA FLJ75279 complete cds, highly similar to Homo sapiens elongation factor RNA polymerase II (ELL), mRNA.
BC049195 - Homo sapiens elongation factor RNA polymerase II, mRNA (cDNA clone MGC:51897 IMAGE:5170024), complete cds.
BC010010 - Homo sapiens elongation factor RNA polymerase II, mRNA (cDNA clone IMAGE:4309802), partial cds.
BC108256 - Homo sapiens cDNA clone IMAGE:4451056.
BC033673 - Homo sapiens elongation factor RNA polymerase II, mRNA (cDNA clone IMAGE:5170630), with apparent retained intron.
AF157562 - Homo sapiens unknown mRNA.
AL136771 - Homo sapiens mRNA; cDNA DKFZp434I1916 (from clone DKFZp434I1916); complete cds.
BC064558 - Homo sapiens elongation factor RNA polymerase II, mRNA (cDNA clone IMAGE:5548748).
JD192851 - Sequence 173875 from Patent EP1572962.
KJ901864 - Synthetic construct Homo sapiens clone ccsbBroadEn_11258 ELL gene, encodes complete protein.
JD485518 - Sequence 466542 from Patent EP1572962.
JD559543 - Sequence 540567 from Patent EP1572962.
JD198640 - Sequence 179664 from Patent EP1572962.
JD522663 - Sequence 503687 from Patent EP1572962.
JD562224 - Sequence 543248 from Patent EP1572962.
JD378921 - Sequence 359945 from Patent EP1572962.
JD407419 - Sequence 388443 from Patent EP1572962.
AK309878 - Homo sapiens cDNA, FLJ99919.
JD485473 - Sequence 466497 from Patent EP1572962.
JD188869 - Sequence 169893 from Patent EP1572962.
JD308017 - Sequence 289041 from Patent EP1572962.
JD403755 - Sequence 384779 from Patent EP1572962.
JD387609 - Sequence 368633 from Patent EP1572962.
JD235322 - Sequence 216346 from Patent EP1572962.
JD411782 - Sequence 392806 from Patent EP1572962.
JD419665 - Sequence 400689 from Patent EP1572962.
JD278662 - Sequence 259686 from Patent EP1572962.
JD157596 - Sequence 138620 from Patent EP1572962.
JD220503 - Sequence 201527 from Patent EP1572962.
JD403430 - Sequence 384454 from Patent EP1572962.
JD416795 - Sequence 397819 from Patent EP1572962.
JD536774 - Sequence 517798 from Patent EP1572962.
JD041654 - Sequence 22678 from Patent EP1572962.
JD408780 - Sequence 389804 from Patent EP1572962.
S77890 - INS120=INS120 chimeric transcription factor, MEN=MEN chimeric transcription factor {clone T7, translocation junction point} [human, myeloid leukemia patient, mRNA Partial, 1852 nt].
DQ437654 - Homo sapiens isolate t-137 chromosome der(11) MLL/ELL breakpoint junction mRNA, partial sequence.
S77889 - MLL...MLL {clone T7, exon 8, translocation junction point} [human, myeloid leukemia patient, mRNA Partial, 3 genes, 178 nt].
S77880 - MLL...MLL {clone R17, exon 7, translocation junction point} [human, myeloid leukemia patient, mRNA Partial Mutant, 3 genes, 178 nt].
MN238627 - Homo sapiens isolate 17484 KMT2A/ELL fusion protein (KMT2A/ELL fusion) mRNA, partial cds.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P55199 (Reactome details) participates in the following event(s):

R-HSA-112381 Hyperphosphorylation (Ser2) of RNA Pol II CTD by P-TEFb complex
R-HSA-167077 Recruitment of elongation factors to form HIV-1 elongation complex
R-HSA-167196 Recruitment of elongation factors to form HIV-1 elongation complex
R-HSA-113429 Elongating transcript encounters a lesion in the template
R-HSA-112379 Recruitment of elongation factors to form elongation complex
R-HSA-113411 2-4 nt.backtracking of Pol II complex on the template leading to elongation pausing
R-HSA-113412 Pol II elongation complex moves on the template as transcript elongates
R-HSA-113414 7-14 nt. Backtracking of Pol II complex on the template leading to elongation arrest
R-HSA-112385 Addition of nucleotides leads to transcript elongation
R-HSA-112392 Resumption of elongation after recovery from pausing
R-HSA-113413 TFIIS-mediated recovery of elongation from arrest
R-HSA-112395 Abortive termination of elongation after arrest
R-HSA-112396 Separation of elongating transcript from template
R-HSA-167150 Resumption of elongation of HIV-1 transcript after recovery from pausing
R-HSA-167076 2-4 nt.backtracking of Pol II complex on the HIV-1 template leading to elongation pausing
R-HSA-167282 2-4 nt.backtracking of Pol II complex on the HIV-1 template leading to elongation pausing
R-HSA-167284 7-14 nt. Backtracking of Pol II complex on the HIV-1 template leading to elongation arrest
R-HSA-167288 TFIIS-mediated recovery of HIV-1 elongation from arrest
R-HSA-167292 Resumption of elongation of HIV-1 transcript after recovery from pausing
R-HSA-167148 TFIIS-mediated recovery of elongation from arrest
R-HSA-167459 Abortive termination of HIV-1 elongation after arrest (Tat-containing elongation complex)
R-HSA-167090 7-14 nt. Backtracking of Pol II complex on the HIV-1 template leading to elongation arrest
R-HSA-167192 Pol II elongation complex moves on the HIV-1 template as transcript elongates
R-HSA-167181 Addition of nucleotides leads to HIV-1 transcript elongation
R-HSA-167197 Separation of elongating HIV-1 transcript from template
R-HSA-167481 Abortive termination of HIV-1 elongation after arrest
R-HSA-6797616 CCNK:CDK12 binds RNA Pol II at DNA repair genes
R-HSA-6797606 CDK12 phosphorylates RNA Pol II CTD at DNA repair genes
R-HSA-6814885 CBCAP complex binds 7-methylguanosine cap of snRNA
R-HSA-112382 Formation of RNA Pol II elongation complex
R-HSA-167152 Formation of HIV elongation complex in the absence of HIV Tat
R-HSA-167200 Formation of HIV-1 elongation complex containing HIV-1 Tat
R-HSA-674695 RNA Polymerase II Pre-transcription Events
R-HSA-75955 RNA Polymerase II Transcription Elongation
R-HSA-167238 Pausing and recovery of Tat-mediated HIV elongation
R-HSA-167290 Pausing and recovery of HIV elongation
R-HSA-167287 HIV elongation arrest and recovery
R-HSA-167243 Tat-mediated HIV elongation arrest and recovery
R-HSA-167246 Tat-mediated elongation of the HIV-1 transcript
R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes
R-HSA-167172 Transcription of the HIV genome
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-167169 HIV Transcription Elongation
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-6807505 RNA polymerase II transcribes snRNA genes
R-HSA-162599 Late Phase of HIV Life Cycle
R-HSA-74160 Gene expression (Transcription)
R-HSA-212436 Generic Transcription Pathway
R-HSA-162587 HIV Life Cycle
R-HSA-162906 HIV Infection
R-HSA-5663205 Infectious disease
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: C19orf17, ELL_HUMAN, ENST00000262809.1, ENST00000262809.2, ENST00000262809.3, ENST00000262809.4, ENST00000262809.5, ENST00000262809.6, ENST00000262809.7, ENST00000262809.8, NM_006532, P55199, uc317hdn.1, uc317hdn.2
UCSC ID: ENST00000262809.9_7
RefSeq Accession: NM_006532.4
Protein: P55199 (aka ELL_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.