SUPT5H
SPT5 Homolog, DSIF Elongation Factor Subunit
Gene Information Card
| Symbol | SUPT5H |
|---|---|
| Full Name | SPT5 Homolog, DSIF Elongation Factor Subunit |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 6829 ncbi.nlm.nih.gov/gene/6829 |
| Ensembl ID | ENSG00000105639 |
| UniProt ID | O00267 |
| OMIM ID | 602723 |
| HGNC ID | 11469 |
| Aliases | SPT5, SPT5H, Tat-CT1, hSPT5 |
Description
SUPT5H encodes the SPT5 subunit of the DRB sensitivity-inducing factor (DSIF) complex, which regulates RNA polymerase II transcription elongation. SPT5 interacts with SPT4 to form DSIF, which can both positively and negatively regulate transcription elongation. The protein is essential for normal development and is implicated in various cancers and viral infections.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | SUPT5H mutations and altered expression affect transcription elongation, contributing to tumorigenesis | COSMIC, ClinVar |
| HIV-1 infection | SUPT5H interacts with HIV-1 Tat protein to enhance viral transcription elongation | UniProt, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Brain | 15.6 | Medium |
| Lung | 12.1 | Medium |
| Liver | 8.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 25.3 | High expression |
| HeLa | 20.1 | High expression |
| K562 | 18.7 | Medium expression |
| HepG2 | 14.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.1% | Unknown functional impact |
| c.567_568del (p.Glu190fs) | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, impairing DSIF complex formation and transcription elongation.
Gain of Function (GOF)
Not well characterized; some missense variants may alter interaction with RNA polymerase II.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA polymerase II transcription elongation | • positive regulation of transcription elongation |
| • negative regulation of transcription elongation | • protein binding |
| • nucleus |
Pathways
• RNA polymerase II transcription elongation
• HIV-1 transcription elongation
• DSIF complex pathway
Protein Summary
SUPT5H encodes a 1,087-amino acid protein that forms the DSIF complex with SPT4. The protein contains a KOW domain and a C-terminal repeat region that interacts with RNA polymerase II and other elongation factors. It is essential for proper transcription elongation and is involved in cellular responses to stress and viral infection.
Related Services
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