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RTL1 - retrotransposon Gag like 1 Gene

Also Known as HUR1; Mar1; MART1; PEG11; SIRH2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 388015

About RTL1

Cytogenetic location: 14q32.2-q32.31 Genomic coordinates (GRCh38): 14:100,879,753-100,903,722 (from NCBI)

This gene has 1 transcript (splice variant), 200 orthologues, 10 paralogues and is associated with 6 phenotypes.

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]

RTL1 Products (1)

mRNA	Protein	Name
NM_001134888.3	NP_001128360.1	retrotransposon-like protein 1

RTL1 Protein Structure

Retrotrans_gag

gag-asp_proteas

0
300
600
900
1200
1358 a.a.

Protein Preferred Names	Protein Names
retrotransposon-like protein 1	Sushi-Ichi retrotransposon homolog 2

Related Diseases

Diseases	Alias
Temple Syndrome	Uniparental Disomy, Maternal, Chromosome 14 Temple Syndrome Due To Paternal 14q32.2 Microdeletion Paternal Del(14)(Q32.2) Temple Syndrome Due To Paternal 14q32.2 Hypomethylation Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 Upd(14)Mat
Kagami-Ogata Syndrome	Paternal Uniparental Disomy Of Chromosome 14 Uniparental Disomy, Paternal, Chromosome 14 Kos Mca Due To 14q32.2 Maternally Expressed Gene Defect Paternal Uniparental Disomy 14 Kagami-Ogata Syndrome Due To Maternal 14q32.2 Microdeletion Maternal Del(14)(Q32.2) Maternal Monosomy 14q32.2 Kagami-Ogata Syndrome Due To Maternal 14q32.2 Hypermethylation Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 Upd(14)Pat
Maternal Uniparental Disomy
Developmental And Epileptic Encephalopathy 66	DEE66 Epileptic Encephalopathy, Early Infantile, 66 Eiee66 Developmental And Epileptic Encephalopathy, 66 Early Infantile Epileptic Encephalopathy 66 Encephalopathy, Epileptic, Early Infantile, Type 66
Facial Hemiatrophy	Parry-Romberg Syndrome
Polyhydramnios
Silver-Russell Syndrome 1	Silver-Russell Syndrome Russell-Silver Syndrome Silver-Russell Dwarfism Rss SRS1 Srs Silver Russell Dwarfism Russell Silver Syndrome Silver Russell Syndrome
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12322	RTL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19639	Rtl1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26133	Rtl1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	RTL1	VGNC	VGNC:34199
Mus musculus	RTL1	MGD	MGI:2656842
Rattus norvegicus	RTL1	RGD	RGD:11378340
Canis familiaris	RTL1	VGNC	VGNC:45791
Macaca mulatta	RTL1	VGNC	VGNC:84761
Others	RTL1	NCBI