SUPT16H
Domain
The C-terminal Glu-rich acidic region is essential for FACT activity.
Function
Component of the FACT complex, a general chromatin factor that acts to reorganize nucleosomes. The FACT complex is involved in multiple processes that require DNA as a template such as mRNA elongation, DNA replication and DNA repair. During transcription elongation the FACT complex acts as a histone chaperone that both destabilizes and restores nucleosomal structure. It facilitates the passage of RNA polymerase II and transcription by promoting the dissociation of one histone H2A-H2B dimer from the nucleosome, then subsequently promotes the reestablishment of the nucleosome following the passage of RNA polymerase II. The FACT complex is probably also involved in phosphorylation of 'Ser-392' of p53/TP53 via its association with CK2 (casein kinase II).
Involvement in disease
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
NEDDFAC
An autosomal dominant disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, and autistic-like behaviors. Corpus callosum anomalies are visible on brain imaging. Most patients have dysmorphic features including tall forehead, down-slanting palpebral fissures, ear anomalies and broad nasal bridge. Other variably present clinical features include seizures, sleeping difficulties and precocious puberty.
None
The disease may be caused by variants affecting the gene represented in this entry.
Post-translational modifications
ADP-ribosylated. ADP-ribosylation by PARP1 is induced by genotoxic stress and correlates with dissociation of FACT from chromatin.
Sequence Similarities
Belongs to the peptidase M24 family. SPT16 subfamily.
Tissue Specificity
Ubiquitous.
Cellular localization
- Nucleus
- Chromosome
- Colocalizes with RNA polymerase II on chromatin. Recruited to actively transcribed loci.
Alternative names
FACT140, FACTP140, SUPT16H, FACT complex subunit SPT16, Chromatin-specific transcription elongation factor 140 kDa subunit, FACT 140 kDa subunit, FACTp140, Facilitates chromatin transcription complex subunit SPT16, hSPT16