HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NUDT16L1
nudix hydrolase 16 like 1
Chromosome 16 · 16p13.3
NCBI Gene: 84309Ensembl: ENSG00000168101.15HGNC: HGNC:28154UniProt: B2RD96
74PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein homodimerization activity5'-(N(7)-methylguanosine 5'-triphospho)-[mRNA] hydrolase activityprotein bindingsnoRNA bindingneurodegenerative diseaselysosomal storage diseasemultiple sclerosisParkinson disease
✦AI Summary

NUDT16L1, also known as Tudor-interacting repair regulator (TIRR) or Syndesmos, functions as a key regulator of DNA double-strand break repair pathway choice through its interaction with TP53BP1 (53BP1). In the absence of DNA damage, NUDT16L1 binds to the tandem Tudor-like domain of 53BP1, masking its histone H4K20me2-binding region and preventing 53BP1 recruitment to chr16 1. Following DNA damage, ATM-induced phosphorylation of 53BP1 and RIF1 recruitment causes NUDT16L1 dissociation, allowing 53BP1 recruitment to DNA double-strand breaks and promoting non-homologous end joining repair 1. NUDT16L1 also functions as an RNA-binding protein, with high affinity for the long non-coding RNA NEAT1, particularly its short isoform NEAT1_1, which destabilizes the TIRR/53BP1 complex in a cell cycle-dependent manner 2. Additionally, NUDT16L1 regulates translation by associating with polyribosomes and controlling the expression of mRNAs involved in primary cilia biogenesis 3. Clinically, NUDT16L1 deletion enhances tumor suppressor activity and provides cancer protection, though it causes metabolic dysfunction including insulin resistance 4. The protein has been identified as a potential biomarker in osteoarthritis and shows promise as a target for enhancing genome editing efficiency 5.

Sources cited
1
NUDT16L1 regulates TP53BP1 recruitment to chromatin by masking its H4K20me2-binding domain
PMID: 28241136
2
NUDT16L1 binds NEAT1 RNA, particularly NEAT1_1, which destabilizes the TIRR/53BP1 complex
PMID: 39349456
3
NUDT16L1 deletion provides cancer protection but causes metabolic dysfunction
PMID: 38861384
4
NUDT16L1 functions as an RNA-binding protein that regulates translation and primary cilia formation
PMID: 30260431
5
NUDT16L1 overexpression promotes homologous recombination repair and genome editing efficiency
PMID: 32036573
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.12Weak
Alzheimer diseaseOpen Targets
0.12Weak
lysosomal storage diseaseOpen Targets
0.12Weak
multiple sclerosisOpen Targets
0.12Weak
Parkinson diseaseOpen Targets
0.12Weak
colorectal carcinomaOpen Targets
0.07Suggestive
cancerOpen Targets
0.07Suggestive
isolated asymptomatic elevation of creatine phosphokinaseOpen Targets
0.06Suggestive
pentosuriaOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
pseudohyperaldosteronism type 2Open Targets
0.04Suggestive
myopathy due to calsequestrin and SERCA1 protein overloadOpen Targets
0.04Suggestive
systemic inflammatory response syndromeOpen Targets
0.04Suggestive
metabolic myopathy due to lactate transporter defectOpen Targets
0.04Suggestive
Liddle syndrome 2Open Targets
0.03Suggestive
Liddle syndrome 3Open Targets
0.03Suggestive
colorectal cancerOpen Targets
0.03Suggestive
type 2 diabetes mellitusOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.02Suggestive
prostate cancerOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TP53BP1Protein interaction99%SDC4Protein interaction97%NUDT16Shared pathway33%BICC1Shared pathway25%AUNIPShared pathway25%CNOT10Shared pathway25%
Tissue Expression6 tissues
Liver
100%
Heart
73%
Bone Marrow
53%
Brain
43%
Ovary
40%
Lung
32%
Gene Interaction Network
Click a node to explore
NUDT16L1TP53BP1SDC4NUDT16BICC1AUNIPCNOT10
PROTEIN STRUCTURE
Preparing viewer…
PDB3KVH · 1.70 Å · X-ray
View on RCSB ↗
RankingsWhere NUDT16L1 stands among ~20K protein-coding genes
  • #6,417of 20,598
    Most Researched74
Genes detectedNUDT16L1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
NEAT1 modulates the TIRR/53BP1 complex to maintain genome integrity.
PMID: 39349456
Nat Commun · 2024
1.00
2
Endogenous p53 inhibitor TIRR dissociates systemic metabolic health from oncogenic activity.
PMID: 38861384
Cell Rep · 2024
0.90
3
K29-Linked Ubiquitination of Transcription Regulators Controls Cell Proliferation in the Unfolded Protein Response.
PMID: 40884253
Adv Sci (Weinh) · 2025
0.80
4
Crystal structure of syndesmos and its interaction with Syndecan-4 proteoglycan.
PMID: 26100207
Biochem Biophys Res Commun · 2015
0.70
5
Integrated analysis of bulk RNA and single-cell RNA sequencing data reveals potential biomarkers and immune infiltrates associated with N7-methylguanosine in osteoarthritis.
PMID: 41056007
Int J Surg · 2026
0.60