RTL1: Retrotransposon Gag Like 1
Imprinted retrotransposon-derived gene involved in placental and fetal development
Gene Information Card
| Symbol | RTL1 |
|---|---|
| Full Name | Retrotransposon Gag Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.2 |
| NCBI Gene ID | 388556 ncbi.nlm.nih.gov/gene/388556 |
| Ensembl ID | ENSG00000242247 |
| UniProt ID | Q5JSH3 |
| OMIM ID | 605636 |
| HGNC ID | 14665 |
| Aliases | Peg11, MESTIT1, MART1 |
Description
RTL1 (Retrotransposon Gag Like 1) is an imprinted, paternally expressed gene located on chromosome 14q32.2. It is derived from a retrotransposon and encodes a protein essential for placental development and fetal growth. RTL1 is part of the DLK1-DIO3 imprinted cluster and is regulated by a germline-derived differentially methylated region (IG-DMR). Loss of RTL1 expression is associated with transient neonatal diabetes mellitus (TNDM) and other imprinting disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Transient Neonatal Diabetes Mellitus (TNDM) | Paternal uniparental disomy of chromosome 14 or hypomethylation of the IG-DMR leads to reduced RTL1 expression, impairing pancreatic beta-cell development and insulin secretion. | OMIM #601410; ClinVar; PMID: 19088120 |
| Kagami-Ogata Syndrome | Paternal duplication of 14q32.2 results in overexpression of RTL1, causing polyhydramnios, skeletal abnormalities, and developmental delay. | OMIM #608149; PMID: 18372317 |
| Temple Syndrome | Maternal uniparental disomy of chromosome 14 leads to loss of paternally expressed RTL1, resulting in intrauterine growth restriction, hypotonia, and feeding difficulties. | OMIM #616222; PMID: 21368912 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 12.5 | High |
| Fetal brain | 8.3 | Medium |
| Adult testis | 6.1 | Medium |
| Adult pancreas | 2.4 | Low |
| Adult liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| JEG-3 (placental choriocarcinoma) | 15.2 | High expression |
| SH-SY5Y (neuroblastoma) | 7.8 | Medium expression |
| HeLa (cervical carcinoma) | 1.1 | Low expression |
| HepG2 (hepatocellular carcinoma) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; likely loss of function |
| c.235C>T (p.Arg79*) | Nonsense | <0.01% | Premature stop; loss of function |
| 14q32.2 duplication | Copy number gain | Rare | Gain of function; associated with Kagami-Ogata syndrome |
| IG-DMR hypomethylation | Epigenetic | Rare | Loss of imprinting; reduced RTL1 expression |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense variants (e.g., p.Arg79*, p.Met1?) that abolish protein function; associated with TNDM and Temple syndrome.
Gain of Function (GOF)
Duplication of 14q32.2 leading to increased RTL1 dosage; linked to Kagami-Ogata syndrome.
Dominant Negative (DN)
No dominant-negative mutations reported for RTL1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• DLK1-DIO3 imprinted domain (GeneCards)
• Genomic imprinting (KEGG: hsa04936)
Protein Summary
The RTL1 protein (UniProt Q5JSH3) is a 1,258-amino acid retrotransposon Gag-like protein localized to the extracellular region and plasma membrane. It is involved in cell-cell signaling and placental development. The protein contains a coiled-coil domain and is predicted to function in trophoblast cell fusion and angiogenesis. RTL1 is paternally expressed and essential for maintaining the fetal-maternal interface.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RTL1 Knockout HEK293 Cell Line | EDJ-KQ15136 | Human | 388015 | Details Get a Quote |
| RTL10 Knockout HEK293 Cell Line | EDJ-KQ15141 | Human | 79680 | Details Get a Quote |
| RTL10 Knockout A-549 Cell Line | EDJ-KQ45736 | Human | 79680 | Details Get a Quote |
| RTL10 Knockout HCT 116 Cell Line | EDJ-KQ45737 | Human | 79680 | Details Get a Quote |
| RTL10 Knockout HeLa Cell Line | EDJ-KQ45738 | Human | 79680 | Details Get a Quote |
| RTL1 Knockout HeLa Cell Line | EDJ-KQ60004 | Human | 388015 | Details Get a Quote |
| RTL1 Knockout A-549 Cell Line | EDJ-KQ68465 | Human | 388015 | Details Get a Quote |
| RTL1 Knockout HCT 116 Cell Line | EDJ-KQ76843 | Human | 388015 | Details Get a Quote |
