Entrez Summary: The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011].
UniProt Summary: Key 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. In the SEC complex, AFF4 acts as a central scaffold that recruits other factors through direct interactions with ELL proteins (ELL, ELL2 or ELL3) and the P-TEFb complex. In case of infection by HIV-1 virus, the SEC complex is recruited by the viral Tat protein to stimulate viral gene expression. {ECO:0000269|PubMed:20159561, ECO:0000269|PubMed:20471948, ECO:0000269|PubMed:23251033}.
Pfam DomainsGO Terms
Pfam Domains
AF-4
GO Terms
ELL-EAF complex
transcriptionally active chromatin
transcription elongation factor complex
transcription elongation from RNA polymerase II promoter
DNA-templated transcription, elongation
double-stranded DNA binding
fibrillar center
spermatid development
spermatid differentiation
germ cell development
cellular process involved in reproduction in multicellular organism
transcription by RNA polymerase II
spermatogenesis
male gamete generation
transcription, DNA-templated
nucleic acid-templated transcription
RNA biosynthetic process
developmental process involved in reproduction
DNA-binding transcription factor activity
gamete generation
multicellular organismal reproductive process
sexual reproduction
multicellular organism reproduction
multi-organism reproductive process
nucleobase-containing compound biosynthetic process
heterocycle biosynthetic process
aromatic compound biosynthetic process
organic cyclic compound biosynthetic process
reproductive process
reproduction
cellular nitrogen compound biosynthetic process
cell development
RNA metabolic process
cellular macromolecule biosynthetic process
macromolecule biosynthetic process
gene expression
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)