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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BUD13
BUD13 spliceosome associated protein
Chromosome 11 Β· 11q23.3
NCBI Gene: 84811Ensembl: ENSG00000137656.13HGNC: HGNC:28199UniProt: Q9BRD0
87PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA bindingprotein bindingmRNA splicing, via spliceosomenucleusmetabolic syndromeHypercholesterolemiainfluenza A (H1N1)hyperlipidemia
✦AI Summary

BUD13 is a spliceosome-associated protein that plays crucial roles in pre-mRNA splicing and gene regulation. As an RNA-binding protein, BUD13 functions as a component of both major and minor spliceosomes, facilitating the splicing of U2-type and U12-type introns 1. BUD13 specifically acts to counter intron retention (IR) by promoting successful splicing, particularly at introns with specific characteristics, thereby regulating mature transcript levels of target genes 1. Recent studies have identified BUD13 as forming nuclear condensates, suggesting additional roles in nuclear organization and compartmentalization 2. Beyond splicing, BUD13 functions as an endogenous inhibitor of the tumor suppressor Fbw7, stabilizing oncogenic substrates and interfering with Fbw7-Cul1 complex formation 3. Disease relevance includes associations with metabolic syndrome through genetic polymorphisms affecting lipid metabolism 456. Cancer studies reveal that elevated BUD13 expression correlates with poor prognosis in multiple cancer types, including hepatocellular carcinoma, and somatic gain-of-function mutations (R156C, R230Q) promote oncogenesis by disrupting Fbw7 function 73. BUD13 also modulates immune responses by regulating Irf7 splicing and type I interferon signaling 1.

Sources cited
1
BUD13 counters intron retention by promoting successful splicing and regulates Irf7 to modulate type I interferon responses
PMID: 30639243
2
BUD13 forms nuclear condensates involved in nuclear organization
PMID: 41315769
3
BUD13 functions as an Fbw7 inhibitor and somatic mutations promote oncogenesis
PMID: 37382881
4
BUD13 polymorphisms are associated with serum lipid levels
PMID: 24989072
5
BUD13 variants are associated with metabolic syndrome
PMID: 27827461
6
BUD13 gene cluster variants affect triglyceride levels
PMID: 26397108
7
Elevated BUD13 expression correlates with poor prognosis in multiple cancers
PMID: 37605593
Disease Associationsβ“˜21
metabolic syndromeOpen Targets
0.51Moderate
HypercholesterolemiaOpen Targets
0.43Moderate
influenza A (H1N1)Open Targets
0.35Weak
hyperlipidemiaOpen Targets
0.34Weak
achalasia-progeroid syndromeOpen Targets
0.33Weak
metabolic diseaseOpen Targets
0.33Weak
coronary atherosclerosisOpen Targets
0.32Weak
cardiovascular diseaseOpen Targets
0.30Weak
intermediate coronary syndromeOpen Targets
0.29Weak
neurodegenerative diseaseOpen Targets
0.27Weak
percutaneous transluminal coronary angioplastyOpen Targets
0.27Weak
angina pectorisOpen Targets
0.26Weak
non-alcoholic fatty liver diseaseOpen Targets
0.26Weak
Chest painOpen Targets
0.25Weak
coronary artery diseaseOpen Targets
0.24Weak
diabetes mellitusOpen Targets
0.21Weak
multinodular goiterOpen Targets
0.20Weak
COVID-19Open Targets
0.18Weak
risk-taking behaviourOpen Targets
0.17Weak
myocardial infarctionOpen Targets
0.16Weak
Achalasia-progeroid syndromeUniProt
Pathogenic Variants1
NM_032725.4(BUD13):c.688C>T (p.Arg230Ter)Pathogenic
Achalasia-progeroid syndrome
β˜†β˜†β˜†β˜†2025β†’ Residue 230
View on ClinVar β†—
Related Genes
XAB2Protein interaction100%PRPF3Protein interaction100%DDX46Protein interaction100%PRPF31Protein interaction100%IKProtein interaction100%MFAP1Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Lung
91%
Bone Marrow
91%
Brain
72%
Heart
67%
Liver
64%
Gene Interaction Network
Click a node to explore
BUD13XAB2PRPF3DDX46PRPF31IKMFAP1
PROTEIN STRUCTURE
Preparing viewer…
PDB7DVQ Β· 2.89 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.91LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.71 [0.55–0.91]
RankingsWhere BUD13 stands among ~20K protein-coding genes
  • #5,461of 20,598
    Most Researched87
  • #4,932of 5,498
    Most Pathogenic Variants1
  • #8,277of 17,882
    Most Constrained (LOEUF)0.91
Genes detectedBUD13
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Association between the MLX interacting protein-like, BUD13 homolog and zinc finger protein 259 gene polymorphisms and serum lipid levels.
PMID: 24989072
Sci Rep Β· 2014
1.00
2
Interaction of polymorphisms in APOA4-APOA5-ZPR1-BUD13 gene cluster and sleep duration on 5-year lipid changes in middle aged and older Chinese.
PMID: 31181149
Sleep Β· 2019
0.90
3
Proximal proteomics reveals a landscape of human nuclear condensates.
PMID: 41315769
Nat Cell Biol Β· 2025
0.80
4
Association and interaction of APOA5, BUD13, CETP, LIPA and health-related behavior with metabolic syndrome in a Taiwanese population.
PMID: 27827461
Sci Rep Β· 2016
0.70
5
Effects of Polymorphisms in APOA4-APOA5-ZNF259-BUD13 Gene Cluster on Plasma Levels of Triglycerides and Risk of Coronary Heart Disease in a Chinese Han Population.
PMID: 26397108
PLoS One Β· 2015
0.60