This gene is a retrotransposon-derived, paternally expressed imprinted gene that is highly expressed at the late fetal stage in both the fetus and placenta. It has an overlapping maternally expressed antisense transcript, which contains several microRNAs targeting the transcripts of this gene through an RNA interference (RNAi) mechanism. This gene is essential for maintenance of the fetal capillaries. [provided by RefSeq, Jul 2009]
Function:
Plays an essential role in capillaries endothelial cells for the maintenance of feto-maternal interface and for development of the placenta
Subcellular Location:
Membrane; Multi-pass membrane protein
SWISS:
A6NKG5
Gene ID:
317615
Database links:
Entrez Gene: 317615 Human
Omim: 611896 Human
SwissProt: A6NKG5 Human
Rtl1 is one of at least 11 genes called Mar or Mart related to long terminal repeat retrotransposons. They do not correspond to functional retrotransposons, but rather to neofunctionalized retrotransposons genes.
RTL1 is an imprinted gene located in a cluster of imprinted genes on chromosome 14. It is expressed from the paternal chromosome and has an antisense transcript with full complementarity to RTL1, RTL1as, expressed from the maternal chromosome, which acts as a repressor for RTL1. Excessive RTL1 expression and decreased RTL1 expression are relevant to upd14pat-like and upd14mat-like phenotypes, respectively. Paternal and maternal uniparental disomy for chromosome 14 (upd14pat and upd14mat) cause distinct phenotypes; Upd14pat results in a unique phenotype characterized by facial abnormality, a small, bell-shaped thorax and abdominal wall defects, and upd14mat leads to pre- and postnatal growth failure and early onset of puberty.
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