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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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UTP6
UTP6 small subunit processome component
Chromosome 17 · 17q11.2
NCBI Gene: 55813Ensembl: ENSG00000108651.11HGNC: HGNC:18279UniProt: Q9NYH9
76PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleolussmall-subunit processomeribosomal small subunit biogenesisprotein bindingAge-related cataractcolorectal carcinomaprostate carcinomamusculoskeletal system disease
✦AI Summary

UTP6 is a nucleolar protein that functions as a component of the small subunit (SSU) processome, the initial precursor complex in eukaryotic ribosomal small subunit assembly 1. During SSU processome assembly in the nucleolus, UTP6 participates in coordinated ribosome biogenesis by facilitating pre-18S rRNA processing, including RNA folding, chemical modifications, structural rearrangements, and targeted cleavage events 2. The protein associates with nascent pre-rRNA, ribosomal proteins, and RNA chaperones to coordinate these maturation processes. UTP6 amplification on chromosome 17 is associated with enhanced ribosome biogenesis in collecting duct carcinoma, contributing to aggressive tumor proliferation and metastasis 1. Beyond cancer, UTP6 mislocalization—rather than differential expression—correlates with breast cancer development, suggesting aberrant protein compartmentalization affects its normal ribosome biogenesis function 3. Additionally, UTP6 was identified as a hub gene dysregulated in sepsis pathogenesis, where it participates in immune cell activation and differentiation with diagnostic potential (AUC >0.95) 4. UTP6 haploinsufficiency within NF1 microdeletions on 17q11.2 may contribute to developmental abnormalities observed in NF1 microdeletion syndrome 5, suggesting its involvement extends beyond ribosome biogenesis to broader developmental processes.

Sources cited
1
UTP6 amplification on chromosome 17q is associated with enhanced ribosome biogenesis in collecting duct carcinoma, contributing to tumor proliferation and metastasis
PMID: 40917497
2
UTP6 is involved in ribosome biogenesis pathways and serves as a commonly regulated gene in yeast stress response
PMID: 40445397
3
UTP6 protein mislocalization (not differential expression) is associated with breast cancer development
PMID: 39095659
4
UTP6 is a hub gene dysregulated in sepsis that participates in lymphocyte activation and differentiation with diagnostic potential (AUC >0.95)
PMID: 38063093
5
UTP6 is included in 17q11.2 microdeletions associated with NF1 microdeletion syndrome
PMID: 31703719
6
UTP6 is a candidate modifier gene for neurofibroma formation based on expression analysis in the NF1 microdeletion interval
PMID: 18850118
Disease Associationsⓘ20
Age-related cataractOpen Targets
0.10Weak
colorectal carcinomaOpen Targets
0.06Suggestive
prostate carcinomaOpen Targets
0.05Suggestive
musculoskeletal system diseaseOpen Targets
0.03Suggestive
rectum cancerOpen Targets
0.03Suggestive
post-traumatic stress disorderOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
coronary artery diseaseOpen Targets
0.03Suggestive
ovarian neoplasmOpen Targets
0.02Suggestive
type 1 diabetes mellitusOpen Targets
0.02Suggestive
cervical carcinomaOpen Targets
0.02Suggestive
tooth diseaseOpen Targets
0.02Suggestive
preeclampsiaOpen Targets
0.02Suggestive
pleural empyemaOpen Targets
0.02Suggestive
pneumothoraxOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
acute myeloid leukemiaOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
breast neoplasmOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MCCProtein interaction100%NOP14Protein interaction100%KRR1Protein interaction100%PDCD11Protein interaction100%RSL1D1Protein interaction100%AATFProtein interaction100%
Tissue Expression6 tissues
Ovary
100%
Liver
83%
Lung
81%
Bone Marrow
71%
Heart
65%
Brain
52%
Gene Interaction Network
Click a node to explore
UTP6MCCNOP14KRR1PDCD11RSL1D1AATF
PROTEIN STRUCTURE
Preparing viewer…
PDB7MQA · 2.70 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.67LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.53 [0.42–0.67]
RankingsWhere UTP6 stands among ~20K protein-coding genes
  • #6,301of 20,598
    Most Researched76
  • #4,962of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedUTP6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Proteogenomic Analysis Identifies Clinically Relevant Subgroups of Collecting Duct Carcinoma.
PMID: 40917497
Research (Wash D C) · 2025
1.00
2
Differentially localized protein identification for breast cancer based on deep learning in immunohistochemical images.
PMID: 39095659
Commun Biol · 2024
0.90
3
Identification of novel immune infiltration-related biomarkers of sepsis based on bioinformatics analysis.
PMID: 38063093
Cell Mol Biol (Noisy-le-grand) · 2023
0.80
4
Transcriptomic Response Pathways of Yeast to Crucial Polyphenolic Acids in Rosmarinus Acid Biosynthesis.
PMID: 40445397
Curr Microbiol · 2025
0.70
5
ADAP2 in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome.
PMID: 24711647
J Med Genet · 2014
0.60