ELL

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 Formation of HIV elongation complex in the absence of HIV Tat and Gene Expression. Gene Ontology (GO) annotations related to this gene include phosphatase binding. An important paralog of this gene is ELL2.

Full Name

Elongation Factor For RNA Polymerase II

Research Area

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.

Biological Process

In utero embryonic development Source: Ensembl
Positive regulation of DNA-templated transcription, elongation Source: ProtInc
Positive regulation of transcription by RNA polymerase III Source: UniProtKB
Positive regulation of transcription elongation from RNA polymerase II promoter Source: UniProtKB
snRNA transcription by RNA polymerase II Source: UniProtKB
snRNA transcription by RNA polymerase III Source: UniProtKB
Transcription elongation from RNA polymerase II promoter Source: ProtInc

Cellular Location

Nucleus; Nucleus speckle; Cajal body. 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).

Involvement in disease

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.