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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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L1TD1
LINE1 type transposase domain containing 1
Chromosome 1 · 1p31.3
NCBI Gene: 54596Ensembl: ENSG00000240563.4HGNC: HGNC:25595UniProt: Q5T7N2
40PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsequence-specific mRNA bindingretrotransposition3'-UTR-mediated mRNA stabilizationneuroblastomaAbnormal pupillary functioncolorectal cancerbronchial disease
✦AI Summary

L1TD1 (LINE1 type transposase domain containing 1) is a cytoplasmic RNA-binding protein specifically expressed in pluripotent stem cells and certain cancers, derived from the domesticated LINE-1 retroelement ORF1p 1. The protein serves dual functions in maintaining pluripotency and regulating retrotransposition. In human embryonic stem cells, L1TD1 is essential for self-renewal and maintains pluripotency by regulating OCT4 and NANOG expression through interaction with LIN28 and RNA helicase A 2. L1TD1 participates in RNA splicing, translation, protein trafficking, and degradation, bridging nuclear and cytoplasmic regulation 3. Mechanistically, L1TD1 associates with L1 transcripts and interacts with ancestral L1 ORF1p protein, facilitating LINE-1 retrotransposition as an RNA chaperone 1. The protein localizes to ribonucleoprotein condensates and can dissolve stress granules, enhancing translation of specific mRNAs 4. Clinically, L1TD1 shows context-dependent roles in cancer: it acts as a tumor suppressor in non-small cell lung cancer where DNA hypermethylation silences its expression 5, but serves as a positive prognostic marker in colon cancer where increased expression correlates with longer disease-free survival 6. The gene has evolved under positive selection in mammals, suggesting functional importance in genome defense and pluripotency maintenance 7.

Sources cited
1
L1TD1 is derived from LINE-1 ORF1p and facilitates retrotransposition by associating with L1 transcripts and ORF1p protein
PMID: 40112032
2
L1TD1 is essential for human embryonic stem cell self-renewal and regulates OCT4/NANOG through interaction with LIN28 and RNA helicase A
PMID: 22162396
3
L1TD1 participates in RNA splicing, translation, protein trafficking, and degradation, bridging nuclear and cytoplasmic regulation
PMID: 25702638
4
L1TD1 localizes to ribonucleoprotein condensates, dissolves stress granules, and enhances translation of specific mRNAs
PMID: 38165001
5
L1TD1 acts as a tumor suppressor in non-small cell lung cancer where it is silenced by DNA hypermethylation
PMID: 28093071
6
L1TD1 serves as a positive prognostic marker in colon cancer with increased expression correlating with longer disease-free survival
PMID: 31337362
7
L1TD1 has evolved under positive selection in mammals, suggesting roles in genome defense and pluripotency maintenance
PMID: 25211013
Disease Associationsⓘ20
neuroblastomaOpen Targets
0.34Weak
Abnormal pupillary functionOpen Targets
0.22Weak
colorectal cancerOpen Targets
0.13Weak
bronchial diseaseOpen Targets
0.10Weak
obesityOpen Targets
0.10Suggestive
smoking behaviorOpen Targets
0.09Suggestive
AphasiaOpen Targets
0.09Suggestive
skin diseaseOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
cervical carcinomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
Crohn's diseaseOpen Targets
0.05Suggestive
Abnormality of the skeletal systemOpen Targets
0.04Suggestive
influenzaOpen Targets
0.03Suggestive
type 2 diabetes mellitusOpen Targets
0.03Suggestive
circadian rhythmOpen Targets
0.03Suggestive
essential hypertensionOpen Targets
0.02Suggestive
hypertensionOpen Targets
0.02Suggestive
preeclampsiaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LIN28AProtein interaction99%DPPA4Protein interaction89%HSDL2Protein interaction80%AASDHProtein interaction72%DAZ1Shared pathway50%NICOL1Shared pathway50%
Tissue Expression6 tissues
Lung
100%
Ovary
40%
Liver
36%
Brain
15%
Heart
12%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
L1TD1LIN28ADPPA4HSDL2AASDHDAZ1NICOL1
PROTEIN STRUCTURE
Preparing viewer…
PDB3SOO · 2.73 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.29LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.87 [0.60–1.29]
RankingsWhere L1TD1 stands among ~20K protein-coding genes
  • #10,193of 20,598
    Most Researched40
  • #13,590of 17,882
    Most Constrained (LOEUF)1.29
Genes detectedL1TD1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The domesticated transposon protein L1TD1 associates with its ancestor L1 ORF1p to promote LINE-1 retrotransposition.
PMID: 40112032
Elife · 2025
1.00
2
RNA-binding protein L1TD1 interacts with LIN28 via RNA and is required for human embryonic stem cell self-renewal and cancer cell proliferation.
PMID: 22162396
Stem Cells · 2012
0.90
3
Positive selection and multiple losses of the LINE-1-derived L1TD1 gene in mammals suggest a dual role in genome defense and pluripotency.
PMID: 25211013
PLoS Genet · 2014
0.80
4
SPAG6 and L1TD1 are transcriptionally regulated by DNA methylation in non-small cell lung cancers.
PMID: 28093071
Mol Cancer · 2017
0.70
5
L1TD1 - a prognostic marker for colon cancer.
PMID: 31337362
BMC Cancer · 2019
0.60