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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ONECUT1
one cut homeobox 1
Chromosome 15 · 15q21.3
NCBI Gene: 3175Ensembl: ENSG00000169856.9HGNC: HGNC:8138UniProt: Q9UBC0
46PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmsequence-specific double-stranded DNA bindingDNA-binding transcription activator activity, RNA polymerase II-specificchromatinneurodegenerative diseasetype 2 diabetes mellitusneonatal diabetes mellitushypertension
✦AI Summary

ONECUT1 is a transcriptional activator that binds specific DNA sequences to regulate gene expression, particularly in liver and pancreatic tissues 1. In hepatocytes, ONECUT1 functions as a core transcription factor controlling zonation-specific gene expression and chr15 accessibility 1. In pancreatic development, ONECUT1 is essential for pancreatic progenitor formation and endocrine differentiation, controlling transcriptional and epigenetic machinery that regulates NKX2.2/NKX6.1 expression 2. Functionally, ONECUT1 acts as a tumor suppressor in hepatoblastoma; activated β-Catenin suppresses ONECUT1 expression, leading to increased tumor cell glycolysis and hepatoblastoma formation 3. Clinically, biallelic ONECUT1 mutations cause neonatal diabetes mellitus (NDM) characterized by pancreatic hypoplasia, intrauterine growth retardation, and gallbladder abnormalities 24. Heterozygous null variants are associated with early-onset, nonautoimmune type 2 diabetes 5. Disease-causing deletions in ONECUT1 regulatory regions impair pancreatic development and cause syndromic NDM 6. Long-range enhancers controlling ONECUT1, particularly ONECUT1e-664kb, contain diabetes-associated variants that disrupt transcription factor binding 7. These findings establish ONECUT1 as critical for both monogenic (recessive and dominant) and multifactorial diabetes pathogenesis 2.

Sources cited
1
ONECUT1 is a core hepatocyte transcription factor controlling zonation-specific gene expression and chromatin accessibility in liver
PMID: 38182825
2
Biallelic ONECUT1 mutations cause monogenic syndromic diabetes with pancreatic hypoplasia and endocrine developmental defects
PMID: 34663987
3
ONECUT1 functions as a tumor suppressor in hepatoblastoma, suppressed by β-Catenin, regulating tumor cell glycolysis
PMID: 39999468
4
ONECUT1 was identified as a novel neonatal diabetes mellitus gene discovered between 2018-2024
PMID: 39344692
5
Heterozygous ONECUT1 null variants are associated with type 2 diabetes; biallelic variants cause neonatal diabetes
PMID: 37639628
6
ONECUT1 regulatory region enhancers are crucial for pancreatic development; variants in these regions associate with type 2 diabetes
PMID: 39427318
7
Long-range ONECUT1 enhancer (ONECUT1e-664kb) contains diabetes-associated variants disrupting transcription factor binding motifs
PMID: 39163202
8
ONECUT1 influences photoreceptor gene regulatory networks, particularly affecting Rhodopsin and Nr2e3 elements in cone and rod development
PMID: 30466480
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
type 2 diabetes mellitusOpen Targets
0.50Moderate
neonatal diabetes mellitusOpen Targets
0.46Moderate
hypertensionOpen Targets
0.44Moderate
diabetes mellitusOpen Targets
0.43Moderate
Abnormality of the skeletal systemOpen Targets
0.39Weak
obesityOpen Targets
0.38Weak
benign neoplasm of eyeOpen Targets
0.37Weak
essential hypertensionOpen Targets
0.32Weak
coronary artery bypassOpen Targets
0.32Weak
strictureOpen Targets
0.30Weak
frozen shoulderOpen Targets
0.30Weak
epilepsyOpen Targets
0.29Weak
adolescent idiopathic scoliosisOpen Targets
0.26Weak
NephropathyOpen Targets
0.22Weak
nephritisOpen Targets
0.21Weak
Increased total eosinophil countOpen Targets
0.20Weak
head injuryOpen Targets
0.20Weak
nephrotic syndromeOpen Targets
0.19Weak
bone remodeling diseaseOpen Targets
0.17Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FOXA2Protein interaction97%NEUROG3Protein interaction97%RFX6Protein interaction90%FOXA1Protein interaction89%HNF4AProtein interaction89%NKX6-1Protein interaction89%
Tissue Expression6 tissues
Liver
100%
Brain
0%
Bone Marrow
0%
Heart
0%
Ovary
0%
Lung
0%
Gene Interaction Network
Click a node to explore
ONECUT1FOXA2NEUROG3RFX6FOXA1HNF4ANKX6-1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9UBC0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.82LoF Tolerant
pLIⓘ
0.03Tolerant
Observed/Expected LoF0.51 [0.32–0.82]
RankingsWhere ONECUT1 stands among ~20K protein-coding genes
  • #9,356of 20,598
    Most Researched46
  • #6,982of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedONECUT1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Neonatal diabetes mellitus around the world: Update 2024.
PMID: 39344692
J Diabetes Investig · 2024
1.00
2
Single-cell spatial multi-omics and deep learning dissect enhancer-driven gene regulatory networks in liver zonation.
PMID: 38182825
Nat Cell Biol · 2024
0.90
3
β-Catenin regulates distinct pathways from YAP and suppresses ONECUT1 to drive hepatoblastoma development in mice and humans.
PMID: 39999468
Hepatology · 2026
0.80
4
A ONECUT1 regulatory, non-coding region in pancreatic development and diabetes.
PMID: 39427318
Cell Rep · 2024
0.70
5
CRISPR screening uncovers a long-range enhancer for ONECUT1 in pancreatic differentiation and links a diabetes risk variant.
PMID: 39163202
Cell Rep · 2024
0.60