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

Gene ID: 388015, updated on 5-Aug-2022

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
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Genomic context

See RTL1 in Genome Data Viewer
Location:
14q32.2-q32.31
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (100879753..100903722, complement)
110 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_000014.9Genomic Context describing neighboring genes Neighboring gene microRNA 337 Neighboring gene microRNA 665 Neighboring gene microRNA 431 Neighboring gene microRNA 433 Neighboring gene microRNA 127 Neighboring gene microRNA 432 Neighboring gene microRNA 136 Neighboring gene maternally expressed 8, small nucleolar RNA host gene Neighboring gene small nucleolar RNA, C/D box 112 Neighboring gene microRNA 370 Neighboring gene small nucleolar RNA, C/D box 113-1

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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

  1. NG_045001.2 RefSeqGene

    Range
    5001..28970
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1059

mRNA and Protein(s)

  1. NM_001134888.3NP_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:413510
    retropepsin_like; Retropepsins; pepsin-like aspartate proteases
    cd01647
    Location:607782
    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:240332
    Retrotrans_gag; Retrotransposon gag protein
    pfam16297
    Location:200278
    DUF4939; Domain of unknown function (DUF4939)
    pfam16496
    Location:13157
    SWIRM-assoc_2; SWIRM-associated domain at the N-terminal
    cl14782
    Location:876985
    RNase_H_like; Ribonuclease H-like superfamily, including RNase H, HI, HII, HIII, and RNase-like domain IV of spliceosomal protein Prp8

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    100879753..100903722 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047431358.1XP_047287314.1  retrotransposon-like protein 1 isoform X1

    UniProtKB/Swiss-Prot
    E9PKS8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    95115189..95139155 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)