SUPT4H1
Description
The SUPT4H1 (SPT4 homolog, DSIF elongation factor subunit) is a protein-coding gene located on chromosome 17.
Transcription elongation factor SPT4 is a protein that in humans is encoded by the SUPT4H1 gene.
The DRB sensitivity-inducing factor (DSIF) complex, which contains SUPT4H1, plays a crucial role in regulating mRNA processing and transcription elongation by RNA polymerase II. DSIF positively regulates mRNA capping by stimulating the mRNA guanylyltransferase activity of RNGTT/CAP1A. It also works cooperatively with the negative elongation factor complex (NELF) to enhance transcriptional pausing at sites proximal to the promoter. This pausing may facilitate the assembly of an elongation competent RNA polymerase II complex. Both DSIF and NELF promote pausing by inhibiting the transcription elongation factor TFIIS/S-II. TFIIS/S-II binds to RNA polymerase II at transcription pause sites and stimulates the weak intrinsic nuclease activity of the enzyme. Cleavage of blocked transcripts by RNA polymerase II promotes the resumption of transcription from the new 3' terminus and may allow repeated attempts at transcription through natural pause sites. DSIF can also positively regulate transcriptional elongation and is required for efficient activation of transcriptional elongation by the HIV-1 nuclear transcriptional activator, Tat. DSIF acts to suppress transcriptional pausing in transcripts derived from the HIV-1 LTR and blocks premature release of HIV-1 transcripts at terminator sequences.
SUPT4H1 is also known as SPT4, SPT4H, SUPT4H, Supt4a.
Associated Diseases
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- Huntington disease
- alpha thalassemia-intellectual disability syndrome type 1
- anemia
- delta-beta-thalassemia
- hemoglobin D disease
- hemoglobin E-beta-thalassemia syndrome
