L1TD1
LINE-1 Type Transposase Domain Containing 1
Gene Information Card
| Symbol | L1TD1 |
|---|---|
| Full Name | LINE-1 Type Transposase Domain Containing 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1p31.3 |
| NCBI Gene ID | 54596 ncbi.nlm.nih.gov/gene/54596 |
| Ensembl ID | ENSG00000140564 |
| UniProt ID | Q5T7N2 |
| OMIM ID | 612089 |
| HGNC ID | 24856 |
| Aliases | ECAT11, FLJ10884, L1TD1, MGC138290 |
Description
L1TD1 (LINE-1 Type Transposase Domain Containing 1) is a protein-coding gene that encodes a protein containing a domain homologous to the LINE-1 retrotransposon open reading frame 1 (ORF1) protein. It is highly expressed in embryonic stem cells and is considered a marker of pluripotency. L1TD1 is involved in maintaining stem cell identity and self-renewal, and its expression is frequently dysregulated in various cancers, including germ cell tumors and somatic malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Germ cell tumors | Overexpression of L1TD1 in testicular germ cell tumors suggests a role in maintaining a stem-like state | PMID: 19088126 |
| Colorectal cancer | L1TD1 upregulation associated with poor prognosis and stemness features | PMID: 28991257 |
| Breast cancer | L1TD1 expression correlates with aggressive subtypes and stem cell markers | PMID: 25944712 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Placenta | 8.3 | Low |
| Brain | 1.2 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (embryonal carcinoma) | 45.2 | High expression; stem cell model |
| H1 (embryonic stem cell) | 38.7 | High expression; pluripotency marker |
| HeLa | 2.1 | Low expression |
| MCF7 | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon; effect unknown |
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature truncation; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein are predicted to cause loss of function, impairing stem cell maintenance.
Gain of Function (GOF)
No gain-of-function mutations have been reported in L1TD1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for L1TD1.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • protein binding |
| • nucleus | • cytoplasm |
| • regulation of transcription | • DNA-templated |
Pathways
• Pluripotency pathway
• Retrotransposon regulation
Protein Summary
The L1TD1 protein is a 413-amino acid polypeptide that contains a coiled-coil domain and a domain similar to the LINE-1 ORF1 protein. It localizes to both the nucleus and cytoplasm and is thought to bind RNA and proteins involved in stem cell pluripotency. L1TD1 interacts with key pluripotency factors such as NANOG and OCT4, and its expression is essential for maintaining the undifferentiated state of embryonic stem cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| L1TD1 Knockout HEK293 Cell Line | EDJ-KQ3294 | Human | 54596 | Details Get a Quote |
| L1TD1 Knockout HeLa Cell Line | EDJ-KQ56448 | Human | 54596 | Details Get a Quote |
| L1TD1 Knockout A-549 Cell Line | EDJ-KQ64942 | Human | 54596 | Details Get a Quote |
| L1TD1 Knockout HCT 116 Cell Line | EDJ-KQ73384 | Human | 54596 | Details Get a Quote |
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