InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: AFF4

Summary

InnateDB Protein

IDBP-43823.6

Last Modified

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

Gene Symbol

AFF4

Protein Name

AF4/FMR2 family, member 4

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000367858

InnateDB Gene

IDBG-43817 (AFF4)

Protein Structure

UniProt Annotation

Function

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:0000269PubMed:20159561, ECO:0000269PubMed:20471948, ECO:0000269PubMed:23251033}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:12065898}. Note=Associates to transcriptionally active chromatin but not at snRNA genes. {ECO:0000250}.

Disease Associations

Note=A chromosomal aberration involving AFF4 is found in acute lymphoblastic leukemia (ALL). Insertion ins(5;11)(q31;q13q23) that forms a KMT2A/MLL1-AFF4 fusion protein.

Tissue Specificity

Ubiquitously expressed. Strongly expressed in heart, placenta, skeletal muscle, pancreas and to a lower extent in brain. {ECO:0000269PubMed:10588740, ECO:0000269PubMed:12065898}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 30 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.