Homo sapiens Protein: ELL3
Summary
InnateDB Protein IDBP-9280.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ELL3
Protein Name elongation factor RNA polymerase II-like 3
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000320346
InnateDB Gene IDBG-9276 (ELL3)
Protein Structure
UniProt Annotation
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). {ECO:0000250, ECO:0000269PubMed:10882741, ECO:0000269PubMed:22195968}.
Subcellular Localization Nucleus {ECO:0000269PubMed:10882741}.
Disease Associations
Tissue Specificity Testis specific. {ECO:0000269PubMed:10882741}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 4 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0035326 enhancer binding
Biological Process
GO:0006354 DNA-dependent transcription, elongation
GO:0006366 transcription from RNA polymerase II promoter
GO:0006368 transcription elongation from RNA polymerase II promoter
GO:0007283 spermatogenesis
GO:0010717 regulation of epithelial to mesenchymal transition
GO:0032786 positive regulation of DNA-templated transcription, elongation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048863 stem cell differentiation
GO:0050769 positive regulation of neurogenesis
GO:1901797 negative regulation of signal transduction by p53 class mediator
GO:1902166 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator
GO:2000179 positive regulation of neural precursor cell proliferation
Cellular Component
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0008023 transcription elongation factor complex
Protein Structure and Domains
PDB ID
InterPro IPR010844 Occludin/RNA polymerase II elongation factor, ELL domain
IPR019464 RNA polymerase II elongation factor ELL
PFAM PF07303
PF10390
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9HB65
PhosphoSite PhosphoSite-
TrEMBL
UniProt Splice Variant
Entrez Gene 80237
UniGene Hs.706346
RefSeq NP_079441
HUGO HGNC:23113
OMIM 609885
CCDS CCDS10102
HPRD 10933
IMGT
EMBL AC018512 AF276512 AK026290 AK057528 AK126384 BC006548 BC019293 CH471082 CR457358
GenPept AAG13463 AAH06548 AAH19293 BAB15432 BAG51928 BAG54320 CAG33639 EAW77238