InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ELL

Summary

InnateDB Protein

IDBP-38290.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ELL

Protein Name

elongation factor RNA polymerase II

Synonyms

C19orf17; ELL1; MEN; PPP1R68;

Species

Homo sapiens

Ensembl Protein

ENSP00000262809

InnateDB Gene

IDBG-38288 (ELL)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:16006523, ECO:0000269PubMed:20159561, ECO:0000269PubMed:20471948, ECO:0000269PubMed:22195968, ECO:0000269PubMed:22252557, ECO:0000269PubMed:23932780, ECO:0000269PubMed:8596958}.

Subcellular Localization

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.

Disease Associations

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.

Tissue Specificity

Expressed in all tissues tested. Highest levels found in placenta, skeletal muscle, testis and peripheral blood leukocytes.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	26 [view]
Protein-Protein	23 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0019902	phosphatase binding

Biological Process

GO:0001701	in utero embryonic development
GO:0006366	transcription from RNA polymerase II promoter
GO:0006368	transcription elongation from RNA polymerase II promoter
GO:0010467	gene expression
GO:0010923	negative regulation of phosphatase activity
GO:0016032	viral process
GO:0032786	positive regulation of DNA-templated transcription, elongation
GO:0050434	positive regulation of viral transcription