RTL1 retrotransposon Gag like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RTL1provided by HGNC
Official Full Name: retrotransposon Gag like 1provided by HGNC
Primary source: HGNC:HGNC:14665
See related: Ensembl:ENSG00000254656 MIM:611896; AllianceGenome:HGNC:14665
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HUR1; Mar1; MART1; PEG11; SIRH2
Summary: 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]
Orthologs: mouse all
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Genomic context

Location:: 14q32.2-q32.31

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (100879753..100903722, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (95115189..95139155, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (101346090..101370059, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expression profiling of RTL1 in human breast cancer tissues and cell lines.
Title: Expression profiling of RTL1 in human breast cancer tissues and cell lines.
The role of eutherian-specific RTL1 in the nervous system and its implications for the Kagami-Ogata and Temple syndromes.
Title: The role of eutherian-specific RTL1 in the nervous system and its implications for the Kagami-Ogata and Temple syndromes.
Data suggest that DNA is differentially methylated (hypomethylated) at a gene locus associated with regulation of expression of RTL1 and miR136 in type 1 diabetes; these studies were conducted using tissue bank placentas and whole blood cell DNA from children with type 1 diabetes. (RTL1 = retrotransposon-like protein 1; miR136 = microRNA 136)
Title: Role of DNA methylation at the placental RTL1 gene locus in type 1 diabetes.
We find that placental expression of DIO3 and RTL1) correlates with prenatal growth. Combined, these findings suggest that epigenetic programming and gene expression within the DLK1-DIO3 imprinted domain influence both prenatal and postnatal growth.
Title: The placental imprinted DLK1-DIO3 domain: a new link to prenatal and postnatal growth in humans.
The results of this study suggest that hyperactive retrotransposition of L1 in neurons triggered by environmental and/or genetic risk factors may contribute to the susceptibility and pathophysiology of schizophrenia.
Title: Increased l1 retrotransposition in the neuronal genome in schizophrenia.
In addition to identifying Rtl1 as a novel driver of HCC, our study represents one of the first direct in vivo demonstrations of a role for such a co-opted genetic element in promoting carcinogenesis.
Title: Identification of rtl1, a retrotransposon-derived imprinted gene, as a novel driver of hepatocarcinogenesis.
RTL1, a paternally expressed gene in a cluster of imprinted genes on chromosome 14q32.2, is associated with upd(14)pat-like and upd(14)mat-like phenotypes.
Title: Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_10877-10878:993140164:1 (e-PCR)
- UniSTS:241088

Gene Ontology Provided by GOA

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: retrotransposon-like protein 1

Names: Sushi-Ichi retrotransposon homolog 2; mammalian retrotransposon derived protein 1; mammalian retrotransposon-derived 1; paternally expressed 11; paternally expressed gene 11 protein; retrotransposon-derived protein PEG11; retrotransposon-like 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_045001.2 RefSeqGene

Range

5001..28970

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1059

mRNA and Protein(s)

NM_001134888.3 → NP_001128360.1 retrotransposon-like protein 1

See identical proteins and their annotated locations for NP_001128360.1

Status: REVIEWED

Source sequence(s)

AL117190

Consensus CDS

CCDS53910.1

UniProtKB/Swiss-Prot

A6NKG5, E9PKS8

UniProtKB/TrEMBL

B9EK54

Related

ENSP00000497482.1, ENST00000649591.1

Conserved Domains (6) summary

cd00303
Location:413 → 510

retropepsin_like; Retropepsins; pepsin-like aspartate proteases

cd01647
Location:607 → 782

RT_LTR; RT_LTR: Reverse transcriptases (RTs) from retrotransposons and retroviruses which have long terminal repeats (LTRs) in their DNA copies but not in their RNA template. RT catalyzes DNA replication from an RNA template, and is responsible for the ...

pfam03732
Location:240 → 332

Retrotrans_gag; Retrotransposon gag protein

pfam16297
Location:200 → 278

DUF4939; Domain of unknown function (DUF4939)

pfam16496
Location:13 → 157

SWIRM-assoc_2; SWIRM-associated domain at the N-terminal

cl14782
Location:876 → 985

RNase_H_like; Ribonuclease H-like superfamily, including RNase H, HI, HII, HIII, and RNase-like domain IV of spliceosomal protein Prp8
NM_001425285.1 → NP_001412214.1 retrotransposon-like protein 1

Status: REVIEWED

Source sequence(s)

AL117190

UniProtKB/Swiss-Prot

A6NKG5, E9PKS8