RTL1 (retrotransposon Gag like 1)

2013-07-01  

Identity

HGNC
RTL1
LOCATION
14q32.2
LOCUSID
388015
ALIAS
HUR1,MART1,Mar1,PEG11,SIRH2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 388015
MIM: 611896
HGNC: 14665
Ensembl: ENSG00000254656

Variants:

dbSNP: 388015
ClinVar: 388015
TCGA: ENSG00000254656
COSMIC: RTL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000254656ENST00000534062A6NKG5
ENSG00000254656ENST00000649591A6NKG5

Expression (GTEx)

0
1
2
3
4
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
334845742021The role of eutherian-specific RTL1 in the nervous system and its implications for the Kagami-Ogata and Temple syndromes.14
340872312021Expression profiling of RTL1 in human breast cancer tissues and cell lines.2
334845742021The role of eutherian-specific RTL1 in the nervous system and its implications for the Kagami-Ogata and Temple syndromes.14
340872312021Expression profiling of RTL1 in human breast cancer tissues and cell lines.2
271744692017Role of DNA methylation at the placental RTL1 gene locus in type 1 diabetes.3
285027572017The placental imprinted DLK1-DIO3 domain: a new link to prenatal and postnatal growth in humans.8
271744692017Role of DNA methylation at the placental RTL1 gene locus in type 1 diabetes.3
285027572017The placental imprinted DLK1-DIO3 domain: a new link to prenatal and postnatal growth in humans.8
243890102014Increased l1 retrotransposition in the neuronal genome in schizophrenia.153
243890102014Increased l1 retrotransposition in the neuronal genome in schizophrenia.153
235930332013Identification of rtl1, a retrotransposon-derived imprinted gene, as a novel driver of hepatocarcinogenesis.51
235930332013Identification of rtl1, a retrotransposon-derived imprinted gene, as a novel driver of hepatocarcinogenesis.51
181765632008Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes.118
181765632008Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes.118

Citation

Dessen P

RTL1 (retrotransposon Gag like 1)

Atlas Genet Cytogenet Oncol Haematol. 2013-07-01

Online version: http://atlasgeneticsoncology.org/gene/53432