RTL1 - retrotransposon Gag like 1 Gene

Homo sapiens

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

Gene ID: 388015 | Gene type: protein coding

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12322	RTL1 Human Pre-designed siRNA Set A		/	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