HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
7 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BOD1L1
biorientation of chromosomes in cell division 1 like 1
Chromosome 4 · 4p15.33
NCBI Gene: 259282Ensembl: ENSG00000038219.13HGNC: HGNC:31792UniProt: H0Y9Y2
73PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA damage responsereplication fork processingprotein bindingSet1C/COMPASS complexneurodegenerative diseaseluminal B breast carcinomaliver diseaselateral epicondylitis
✦AI Summary

BOD1L1 is a 3042-amino acid protein with dual roles in DNA damage response and chromosome 4. Functionally, BOD1L1 protects stalled or damaged replication forks by stabilizing RAD51 nucleofilaments and preventing uncontrolled DNA2-dependent resection, acting as a component of fork protection machinery 1. The protein recruits RIF1 to damaged chr4 and binds DNA repair proteins including FANCD2 and BRCA2, enabling efficient double-stranded break repair and controlling therapeutic sensitivity 1. During mitosis, BOD1L1 localizes to kinetochores and spindles, where it interacts with PP2A phosphatase through an Aurora kinase A-dependent axis to regulate kinetochore protein phosphorylation, chromosome 4, and segregation fidelity 23. Loss of BOD1L1 causes catastrophic genome instability through DNA misrepair and overprocessing 1. Clinically, BOD1L1 variants associate with primary ovarian insufficiency and intraocular pressure regulation 45. Recent evidence identifies BOD1L1 as a putative radiosensitivity gene influencing bladder toxicity following prostate cancer radiotherapy 6. BOD1L1 mutations occur in human cancers, and its depletion reduces cell growth when combined with taxol or Aurora kinase A inhibitors, suggesting therapeutic targeting potential 2.

Sources cited
1
BOD1L1 stabilizes RAD51 at stalled replication forks, recruits RIF1 to damaged chromatin, binds DNA repair proteins (FANCD2, BRCA2), and loss causes genome instability
PMID: 41417274
2
BOD1L1 localizes to kinetochores/spindles during mitosis, interacts with PP2A phosphatase via Aurora kinase A axis, regulates kinetochore protein phosphorylation and chromosome segregation fidelity; mutated in cancer and sensitizes cells to Taxol and Aurora kinase A inhibitors
PMID: 37609141
3
BOD1L1 phosphorylation by Aurora kinase A promotes chromosome segregation fidelity through PP2A interaction and kinetochore protein regulation
PMID: 39970043
4
BOD1L1 variants are functionally supported as a novel risk gene for primary ovarian insufficiency
PMID: 34718612
5
BOD1L1 is a rare-variant gene associated with intraocular pressure and glaucoma
PMID: 36450729
6
BOD1L1 identified as a putative novel radiosensitivity gene influencing late bladder toxicity after prostate cancer radiotherapy
PMID: 40029246
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.51Moderate
luminal B breast carcinomaOpen Targets
0.34Weak
liver diseaseOpen Targets
0.24Weak
lateral epicondylitisOpen Targets
0.20Weak
Dental malocclusionOpen Targets
0.18Weak
chronic intestinal vascular insufficiencyOpen Targets
0.17Weak
hypopituitarismOpen Targets
0.17Weak
osteitis deformansOpen Targets
0.17Weak
response to antihypertensive drugOpen Targets
0.17Weak
ParalysisOpen Targets
0.17Weak
sialolithiasisOpen Targets
0.17Weak
deficiency anemiaOpen Targets
0.17Weak
HirsutismOpen Targets
0.17Weak
cancerOpen Targets
0.06Suggestive
carpal tunnel syndromeOpen Targets
0.04Suggestive
osteoarthritis, kneeOpen Targets
0.04Suggestive
intrahepatic bile duct cancerOpen Targets
0.03Suggestive
liver cancerOpen Targets
0.03Suggestive
mononeuropathyOpen Targets
0.03Suggestive
total knee arthroplastyOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CXXC1Protein interaction93%SETD1AProtein interaction93%RBBP5Protein interaction92%WDR5Protein interaction89%HCFC2Protein interaction85%ASH2LProtein interaction85%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
49%
Brain
42%
Lung
36%
Heart
36%
Liver
21%
Gene Interaction Network
Click a node to explore
BOD1L1CXXC1SETD1ARBBP5WDR5HCFC2ASH2L
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8NFC6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.41Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.33 [0.27–0.41]
RankingsWhere BOD1L1 stands among ~20K protein-coding genes
  • #6,447of 20,598
    Most Researched73
  • #2,131of 17,882
    Most Constrained (LOEUF)0.41 · top quartile
Genes detectedBOD1L1
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
A busy BOD1-y: the diverse functions of an intracellular signaling regulatory protein family.
PMID: 41417274
Biochem Soc Trans · 2025
1.00
2
A Polygenic Risk Score for Late Bladder Toxicity Following Radiotherapy for Non-Metastatic Prostate Cancer.
PMID: 40029246
Cancer Epidemiol Biomarkers Prev · 2025
0.86
3
An Aurora kinase A-BOD1L1-PP2A B56 Axis promotes chromosome segregation fidelity.
PMID: 37609141
bioRxiv · 2024
0.71
4
Rewiring of miRNA-mRNA bipartite co-expression network as a novel way to understand the prostate cancer related players.
PMID: 37018429
Syst Biol Reprod Med · 2023
0.57
5
Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency.
PMID: 34718612
J Clin Endocrinol Metab · 2022
0.43