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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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UTP4
UTP4 small subunit processome component
Chromosome 16 · 16q22.1
NCBI Gene: 84916Ensembl: ENSG00000141076.19HGNC: HGNC:1983UniProt: Q969X6
101PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
t-UTP complexprotein bindingsmall-subunit processomeregulation of DNA-templated transcriptionhereditary North American Indian childhood cirrhosisbasal cell carcinomacardiovascular diseasenon-melanoma skin carcinoma
✦AI Summary

UTP4 (also known as CIRH1A or TEX292) is a nucleolar protein component of the t-UTP subcomplex within the small subunit (SSU) processome, a ribonucleoprotein complex essential for ribosomal biogenesis. Its primary function is facilitating maturation of 18S rRNA and small ribosomal subunit assembly 1. The protein operates through protein-protein interactions, particularly with Utp8, which are critical for SSU processome assembly and ribosomal RNA processing 1. UTP4 is subject to arginine methylation, a modification associated with RNA processing and ribonucleoprotein complex biogenesis 2. Disruption of UTP4 function has significant disease implications. Missense mutations in UTP4/CIRH1A cause North American Indian Childhood Cirrhosis (NAIC), an autosomal recessive cholestatic disease 3. NAIC pathogenesis involves p53-mediated cellular stress response triggered by defective ribosome biogenesis, leading to biliary development defects 3. Additionally, elevated UTP4 expression correlates with colorectal cancer proliferation, suggesting extraribosomal oncogenic functions 4. Clinically, UTP4 represents both a genetic risk factor for developmental disease and a potential cancer therapeutic target. Its role as a nucleolar stress sensor linking ribosomal dysfunction to cellular pathways underscores the importance of ribosomal proteins in human disease 3.

Sources cited
1
UTP4 C-terminus is essential for ribosome biogenesis, 18S and 25S rRNA maturation, and protein-protein interaction with Utp8 in SSU processome assembly
PMID: 20385600
2
UTP4 is a validated substrate of arginine methyltransferase Hmt1, linking it to RNA processing and ribonucleoprotein complex biogenesis
PMID: 26572822
3
NAIC-causing mutations in UTP4/CIRH1A lead to p53-mediated cellular stress response and biliary morphogenesis defects in vivo
PMID: 24147052
4
CIRH1A is highly expressed in colorectal cancer and its knockdown suppresses cell proliferation and increases apoptosis
PMID: 28350096
5
UTP4 knockdown does not cause nucleolar structural segregation or global nuclear organization changes, indicating distinct roles from RNA polymerase I
PMID: 37610836
Disease Associationsⓘ20
hereditary North American Indian childhood cirrhosisOpen Targets
0.42Moderate
basal cell carcinomaOpen Targets
0.14Weak
cardiovascular diseaseOpen Targets
0.13Weak
non-melanoma skin carcinomaOpen Targets
0.11Weak
skin cancerOpen Targets
0.07Suggestive
isolated asymptomatic elevation of creatine phosphokinaseOpen Targets
0.06Suggestive
neural tube defects, folate-sensitiveOpen Targets
0.06Suggestive
Isolated anencephaly/exencephalyOpen Targets
0.06Suggestive
anencephaly 1Open Targets
0.05Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.05Suggestive
osteoarthritisOpen Targets
0.05Suggestive
osteosarcomaOpen Targets
0.05Suggestive
Spina bifida - hypospadiasOpen Targets
0.05Suggestive
spina bifida-hypospadias syndromeOpen Targets
0.05Suggestive
pentosuriaOpen Targets
0.04Suggestive
tropical spastic paraparesisOpen Targets
0.03Suggestive
chondromalaciaOpen Targets
0.03Suggestive
hypertensionOpen Targets
0.03Suggestive
joint diseaseOpen Targets
0.02Suggestive
lower respiratory tract diseaseOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MCCProtein interaction100%MYBBP1AProtein interaction100%DDX52Protein interaction100%KRR1Protein interaction100%PDCD11Protein interaction100%RSL1D1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
89%
Ovary
77%
Heart
75%
Lung
74%
Liver
66%
Gene Interaction Network
Click a node to explore
UTP4MCCMYBBP1ADDX52KRR1PDCD11RSL1D1
PROTEIN STRUCTURE
Preparing viewer…
PDB7MQA · 2.70 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.77LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.59 [0.46–0.77]
RankingsWhere UTP4 stands among ~20K protein-coding genes
  • #4,757of 20,598
    Most Researched101 · top quartile
  • #6,178of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedUTP4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Scrutinizing the human TEX genes in the context of human male infertility.
PMID: 37594251
Andrology · 2024
1.00
2
Nucleolar structure connects with global nuclear organization.
PMID: 37610836
Mol Biol Cell · 2023
0.90
3
Protein substrates of the arginine methyltransferase Hmt1 identified by proteome arrays.
PMID: 26572822
Proteomics · 2016
0.80
4
The C-terminus of Utp4, mutated in childhood cirrhosis, is essential for ribosome biogenesis.
PMID: 20385600
Nucleic Acids Res · 2010
0.70
5
Identification of factors involved in ribosome assembly in the protozoan parasite Leishmania major.
PMID: 35041807
Acta Trop · 2022
0.60