HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
UTP20
UTP20 small subunit processome component
Chromosome 12 · 12q23.2
NCBI Gene: 27340Ensembl: ENSG00000120800.6HGNC: HGNC:17897UniProt: O75691
92PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingprotein bindingrRNA processingribosomal small subunit biogenesisneurodegenerative diseaseinfectious arthritisGriscelli diseaseGriscelli syndrome type 3
✦AI Summary

UTP20 is a nucleolar protein and essential component of the small subunit (SSU) processome, a massive ribonucleoprotein complex required for ribosomal biogenesis 1. As part of the U3 snoRNA protein complex, UTP20 coordinates 18S pre-rRNA processing and maturation through association with U3 snoRNA and fibrillarin 1. The protein functions as a trans-acting UTP (t-UTP) that activates RNA polymerase I transcription of ribosomal DNA by interacting with UBF and the nucleolar acetyltransferase hALP, promoting UBF acetylation and subsequent rDNA transcription 2. Beyond its canonical ribosomal function, UTP20 exhibits significant disease relevance. Elevated UTP20 expression correlates with poor prognosis in glioma, where it functions as an oncogenic driver promoting cell proliferation and invasion 3. In colon cancer, UTP20 acts as a downstream effector of HMMR, enhancing cell proliferation and migration through mTOR signaling pathway activation 4. Additionally, UTP20 variants were identified as susceptibility loci for early-onset ischemic stroke in Japanese populations 5, and UTP20 showed differential expression in Candida albicans biofilms associated with root caries 6. These findings indicate that UTP20 dysregulation contributes to multiple pathological conditions beyond normal ribosome biogenesis.

Sources cited
1
UTP20 is the mammalian homolog of yeast Utp20, associates with U3 snoRNA and fibrillarin, and functions in 18S rRNA processing
PMID: 17498821
2
UTP20/1A6/DRIM acts as a t-UTP that activates RNA polymerase I transcription by interacting with UBF and hALP to promote UBF acetylation
PMID: 21151873
3
UTP20 is identified as a key oncogenic driver in glioma; knockdown suppresses glioma cell proliferation and invasion
PMID: 41132644
4
UTP20 functions as a downstream effector of HMMR in colon cancer, promoting proliferation and migration through mTOR signaling
PMID: 41297832
5
UTP20 variants are susceptibility loci for early-onset ischemic stroke in Japanese populations
PMID: 29930801
6
UTP20 is upregulated in Candida albicans in root carious lesions, associated with metabolic activity and virulence
PMID: 32348446
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.44Moderate
infectious arthritisOpen Targets
0.10Suggestive
Griscelli diseaseOpen Targets
0.07Suggestive
Griscelli disease type 3Open Targets
0.06Suggestive
Griscelli syndrome type 3Open Targets
0.06Suggestive
uncombable hair syndromeOpen Targets
0.05Suggestive
oculocutaneous albinism type 3Open Targets
0.05Suggestive
Griscelli disease type 1Open Targets
0.04Suggestive
Griscelli syndrome type 1Open Targets
0.04Suggestive
breast neoplasmOpen Targets
0.04Suggestive
Tietz syndromeOpen Targets
0.04Suggestive
Tietze syndromeOpen Targets
0.04Suggestive
isolated familial wooly hair disorderOpen Targets
0.04Suggestive
Woolly hairOpen Targets
0.04Suggestive
hypotrichosis 8Open Targets
0.04Suggestive
ermine phenotypeOpen Targets
0.04Suggestive
Waardenburg syndrome, IIa 2FOpen Targets
0.04Suggestive
Waardenburg syndrome type 4BOpen Targets
0.03Suggestive
Clouston syndromeOpen Targets
0.03Suggestive
Waardenburg syndrome type 2AOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DDX52Protein interaction100%NOP58Protein interaction100%RIOK3Protein interaction100%RIOK1Protein interaction100%MCCProtein interaction100%BMS1Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
93%
Heart
59%
Lung
59%
Liver
48%
Brain
45%
Gene Interaction Network
Click a node to explore
UTP20DDX52NOP58RIOK3RIOK1MCCBMS1
PROTEIN STRUCTURE
Preparing viewer…
PDB7MQA · 2.70 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.55Moderately Constrained
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.47 [0.41–0.55]
RankingsWhere UTP20 stands among ~20K protein-coding genes
  • #5,222of 20,598
    Most Researched92
  • #3,471of 17,882
    Most Constrained (LOEUF)0.55 · top quartile
Genes detectedUTP20
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Ribosome biogenesis-related gene signature predicts prognosis and immune landscape in glioma and identifies UTP20 as a therapeutic target.
PMID: 41132644
Front Immunol · 2025
1.00
2
Folate intake and colorectal cancer risk according to genetic subtypes defined by targeted tumor sequencing.
PMID: 39025327
Am J Clin Nutr · 2024
0.90
3
The role of Candida albicans in root caries biofilms: an RNA-seq analysis.
PMID: 32348446
J Appl Oral Sci · 2020
0.80
4
HMMR is a novel prognostic marker and a potential therapeutic target for colon cancer.
PMID: 41297832
Cell Signal · 2026
0.70
5
Human 1A6/DRIM, the homolog of yeast Utp20, functions in the 18S rRNA processing.
PMID: 17498821
Biochim Biophys Acta · 2007
0.60