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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SUPT4H1
SPT4 homolog, DSIF elongation factor subunit
Chromosome 17 · 17q22
NCBI Gene: 6827Ensembl: ENSG00000213246.7HGNC: HGNC:11467UniProt: P63272
80PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase inhibitor activitytranscription elongation by RNA polymerase IInegative regulation of DNA-templated transcription, elongationpositive regulation of DNA-templated transcription, elongationHIV infectionprostate carcinomahealth study participationhypertension
✦AI Summary

SUPT4H1 is a conserved transcription elongation factor that functions as a component of the DSIF (DRB sensitivity-inducing factor) complex, which regulates RNA polymerase II transcription 1. As part of the DSIF complex, SUPT4H1 plays dual regulatory roles: it promotes promoter-proximal pausing by cooperating with the NELF complex to inhibit the elongation factor TFIIS, facilitating assembly of elongation-competent RNA polymerase II, and it positively regulates transcriptional elongation and mRNA capping 1. SUPT4H1 is ubiquitously expressed across tissues and is essential for global RNA synthesis; its depletion causes widespread reduction in cellular RNA rather than selective effects on specific transcripts 2. Clinically, biallelic SUPT4H1 variants cause a previously unrecognized autosomal recessive multisystem neurodevelopmental disorder featuring intellectual disability, dystonia, and skeletal abnormalities, with functional studies revealing disrupted transcriptional machinery and dysregulation of developmental gene networks 3. Additionally, SUPT4H1 expression dysregulation has been associated with multiple cancer types, including prostate and pancreatic cancer, suggesting roles in disease pathogenesis 45. However, therapeutic targeting of SUPT4H1 faces significant challenges due to its global transcriptional effects 2.

Sources cited
1
DSIF (Spt4-Spt5) regulates promoter-proximal pausing and transcription elongation in higher eukaryotes
PMID: 32987031
2
SUPT4H1 depletion causes global reduction in all cellular RNA, not selective transcript reduction
PMID: 30605685
3
Biallelic SUPT4H1 variants cause multisystem neurodevelopmental disorder with disrupted transcription and developmental gene dysregulation
PMID: 41842694
4
SUPT4H1 identified as blood tissue gene biomarker associated with prostate cancer risk
PMID: 39878408
5
SUPT4H1 identified as candidate susceptibility gene for pancreatic cancer at locus 17q22
PMID: 31917448
6
SUPT4H1 is the human homologue of yeast SPT4 gene, ubiquitously expressed, maps to chromosome 17
PMID: 8786137
Disease Associationsⓘ20
HIV infectionOpen Targets
0.59Moderate
prostate carcinomaOpen Targets
0.40Weak
health study participationOpen Targets
0.39Weak
hypertensionOpen Targets
0.38Weak
Disorder of lipid metabolismOpen Targets
0.35Weak
familial hypercholesterolemiaOpen Targets
0.34Weak
metabolic diseaseOpen Targets
0.33Weak
neurodegenerative diseaseOpen Targets
0.33Weak
major depressive disorderOpen Targets
0.30Weak
Abnormality of the skeletal systemOpen Targets
0.24Weak
myopiaOpen Targets
0.18Weak
Increased blood pressureOpen Targets
0.16Weak
cardiovascular diseaseOpen Targets
0.10Weak
Iron deficiency anemiaOpen Targets
0.10Suggestive
Blackfan-Diamond anemiaOpen Targets
0.08Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.08Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.08Suggestive
Huntington diseaseOpen Targets
0.07Suggestive
Myocardial IschemiaOpen Targets
0.07Suggestive
anemiaOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ERCC6Protein interaction100%POLR2EProtein interaction100%POLR2FProtein interaction100%POLR2HProtein interaction100%POLR2JProtein interaction100%POLR2KProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Lung
83%
Liver
72%
Ovary
68%
Heart
4%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
SUPT4H1ERCC6POLR2EPOLR2FPOLR2HPOLR2JPOLR2K
PROTEIN STRUCTURE
Preparing viewer…
PDB3H7H · 1.55 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.05LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.63 [0.40–1.05]
RankingsWhere SUPT4H1 stands among ~20K protein-coding genes
  • #5,971of 20,598
    Most Researched80
  • #10,469of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedSUPT4H1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A fly model of SCA36 reveals combinatorial neurotoxicity of hexanucleotide and dipeptide repeats.
PMID: 41337098
PLoS Genet · 2025
1.00
2
Lycopene enhances epigenetic reprogramming and zygotic genome activation in the porcine somatic cell nuclear transfer embryo.
PMID: 41006358
Sci Rep · 2025
0.90
3
SUPT4H1 Depletion Leads to a Global Reduction in RNA.
PMID: 30605685
Cell Rep · 2019
0.80
4
Transcriptome-Wide Association Study Identified Novel Blood Tissue Gene Biomarkers for Prostate Cancer Risk.
PMID: 39878408
Prostate · 2025
0.70
5
Mechanisms of Transcription Elongation Factor DSIF (Spt4-Spt5).
PMID: 32987031
J Mol Biol · 2021
0.60