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26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SUPT5H
SPT5 homolog, DSIF elongation factor subunit
Chromosome 19 · 19q13.2
NCBI Gene: 6829Ensembl: ENSG00000196235.15HGNC: HGNC:11469UniProt: O00267
215PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTranscription Factor
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase inhibitor activityRNA bindingpositive regulation of transcription by RNA polymerase IItranscription pausing by RNA polymerase IIHIV infectionneoplasmautosomal recessive spondylocostal dysostosiscolorectal cancer
✦AI Summary

SUPT5H encodes a component of the DRB sensitivity-inducing factor (DSIF) complex, which is essential for regulating RNA polymerase II (Pol II) transcription 1. As a multifunctional elongation factor, SUPT5H positively regulates mRNA capping by stimulating guanylyltransferase activity and acts cooperatively with the negative elongation factor complex (NELF) to enhance transcriptional pausing proximal to promoters, facilitating assembly of elongation-competent Pol II complexes 2. Following CDK9-mediated phosphorylation, SUPT5H switches to promote transcriptional elongation and is required for HIV-1 Tat-mediated transcription activation 1. SUPT5H depletion causes pronounced reduction of paused Pol II at promoters and enhancers with impaired transcription activation and Pol II processivity defects 1. Clinically, loss-of-function SUPT5H variants associate with β-thalassemia-like phenotypes in carriers, including elevated hemoglobin A2 levels 345. In breast cancer, SUPT5H is upregulated and interacts with PIN1 to promote tumorigenicity; SUPT5H depletion reduces proliferation and induces apoptosis 6. These findings establish SUPT5H as an essential positive regulator of global transcription with significant disease relevance in hemoglobinopathies and cancer.

Sources cited
1
SPT5 is a multitasking regulator essential for maintaining Pol II levels, transcription activation, and pause release; its linker phosphorylation at serine 666 potentiates pause release
PMID: 34534457
2
Structure shows DSIF components including SPT5 in paused and activated elongation complexes; PAF and SPT6 mediate pause release by displacing NELF and opening the RNA clamp
PMID: 30135578
3
SUPT5H loss-of-function variants on chromosome 19 cause β-thalassemia-like phenotype in carriers without HBB gene variants
PMID: 36074711
4
SUPT5H loss-of-function variants modify β-thalassemia phenotype in carriers with elevated HbA2 levels, acting as disease modifiers
PMID: 39201615
5
Novel SUPT5H frameshift and nonsense mutations impair protein function and lead to elevated Hb A2 levels in carriers
PMID: 38373659
6
SUPT5H is upregulated in breast cancer, interacts with PIN1, and its depletion inhibits tumorigenicity, migration, and induces apoptosis through MAPK pathway suppression
PMID: 32961044
Disease Associationsⓘ20
HIV infectionOpen Targets
0.59Moderate
neoplasmOpen Targets
0.07Suggestive
autosomal recessive spondylocostal dysostosisOpen Targets
0.06Suggestive
colorectal cancerOpen Targets
0.05Suggestive
fever of unknown originOpen Targets
0.05Suggestive
cervical spondylosisOpen Targets
0.04Suggestive
Prata-Liberal-Goncalves syndromeOpen Targets
0.04Suggestive
osteomesopyknosisOpen Targets
0.04Suggestive
spondylocostal dysostosis 2, autosomal recessiveOpen Targets
0.04Suggestive
Primary basilar impressionOpen Targets
0.04Suggestive
primary basilar invaginationOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.03Suggestive
intrahepatic cholangiocarcinomaOpen Targets
0.03Suggestive
Beta-thalassemiaOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
brain neoplasmOpen Targets
0.02Suggestive
HIV-1 infectionOpen Targets
0.01Suggestive
Huntington diseaseOpen Targets
0.01Suggestive
ThalassemiaOpen Targets
0.01Suggestive
beta-thalassemia intermediaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CDK7Protein interaction100%CDK9Protein interaction100%ERCC6Protein interaction100%GTF2F2Protein interaction100%MLLT1Protein interaction100%AFF1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
65%
Ovary
62%
Brain
56%
Lung
53%
Heart
46%
Gene Interaction Network
Click a node to explore
SUPT5HCDK7CDK9ERCC6GTF2F2MLLT1AFF1
PROTEIN STRUCTURE
Preparing viewer…
PDB5OHQ · 1.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.23Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.17 [0.12–0.23]
RankingsWhere SUPT5H stands among ~20K protein-coding genes
  • #1,934of 20,598
    Most Researched215 · top 10%
  • #665of 17,882
    Most Constrained (LOEUF)0.23 · top 5%
Genes detectedSUPT5H
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
The hemoglobinopathies, molecular disease mechanisms and diagnostics.
PMID: 36074711
Int J Lab Hematol · 2022
1.00
2
SPT5 stabilizes RNA polymerase II, orchestrates transcription cycles, and maintains the enhancer landscape.
PMID: 34534457
Mol Cell · 2021
0.90
3
SUPT5H Post-Transcriptional Silencing Modulates PIN1 Expression, Inhibits Tumorigenicity, and Induces Apoptosis of Human Breast Cancer Cells.
PMID: 32961044
Cell Physiol Biochem · 2020
0.80
4
Transcription-coupled AID deamination damage depends on ELOF1-associated RNA polymerase II.
PMID: 40049162
Mol Cell · 2025
0.70
5
Isolation, sequencing, and mapping of the human homologue of the yeast transcription factor, SPT5.
PMID: 8975720
Genomics · 1996
0.68