SUPT4H1
SPT4 Homolog, DSIF Elongation Factor Subunit
Gene Information Card
| Symbol | SUPT4H1 |
|---|---|
| Full Name | SPT4 Homolog, DSIF Elongation Factor Subunit |
| Gene Type | Protein coding |
| Chromosomal Location | 17q22 |
| NCBI Gene ID | 6827 ncbi.nlm.nih.gov/gene/6827 |
| Ensembl ID | ENSG00000108821 |
| UniProt ID | P63272 |
| OMIM ID | 603555 |
| HGNC ID | 11467 |
| Aliases | SUPT4H, SPT4, SPT4H, hSPT4 |
Description
SUPT4H1 encodes the SPT4 subunit of the DSIF (DRB sensitivity-inducing factor) complex, which regulates RNA polymerase II transcription elongation. The protein interacts with SUPT5H to form DSIF, which can both positively and negatively regulate transcription elongation. SUPT4H1 is involved in mRNA processing and is essential for normal cell growth.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | Altered expression of SUPT4H1 may affect transcription elongation and contribute to tumorigenesis | COSMIC; TCGA |
| Neurodevelopmental disorders | Potential role via transcriptional dysregulation | ClinVar; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Brain (cortex) | 10.5 | Medium |
| Liver | 8.1 | Low |
| Heart | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.5 | High expression |
| HeLa | 12.1 | Medium expression |
| K562 | 11.3 | Medium expression |
| HepG2 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.214C>T (p.Arg72Trp) | Missense | <0.01% | Unknown significance; rare variant |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in SUPT4H1 are rare and may impair DSIF complex assembly, leading to transcription elongation defects.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • transcription elongation factor complex (GO:0008023) |
| • transcription elongation from RNA polymerase II promoter (GO:0006368) | • negative regulation of transcription elongation from RNA polymerase II promoter (GO:0032785) |
| • snRNA transcription by RNA polymerase II (GO:0042795) |
Pathways
• RNA polymerase II transcription elongation (Reactome R-HSA-75955)
• Formation of DSIF complex (Reactome R-HSA-113418)
Protein Summary
SUPT4H1 is a 117-amino acid protein (13.6 kDa) that contains a zinc finger domain. It forms a heterodimer with SUPT5H to constitute the DSIF complex. DSIF binds to RNA polymerase II and regulates transcription elongation by promoting or inhibiting elongation in a context-dependent manner. The protein is highly conserved across eukaryotes.
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